AnatomyDiseasesChemicals and DrugsPsychiatry and Psychology
Amyloid NeuropathiesAmyloid Neuropathies, FamilialPrealbuminAmyloidosisAmyloidDiabetic NeuropathiesAmyloid beta-PeptidesSerum Amyloid A ProteinPeripheral Nervous System DiseasesAmyloid beta-Protein PrecursorPlaque, AmyloidHereditary Sensory and Motor NeuropathyIslet Amyloid PolypeptideCerebral Amyloid AngiopathyHereditary Sensory and Autonomic NeuropathiesOptic Neuropathy, IschemicSerum Amyloid P-ComponentPolyneuropathiesSural NerveAmyloid Precursor Protein SecretasesAlzheimer Disease
Amyloid Neuropathies
Disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. Familial, primary (nonfamilial), and secondary forms have been described. Some familial subtypes demonstrate an autosomal dominant pattern of inheritance. Clinical manifestations include sensory loss, mild weakness, autonomic dysfunction, and CARPAL TUNNEL SYNDROME. (Adams et al., Principles of Neurology, 6th ed, p1349)
Amyloid Neuropathies, Familial
Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.
Prealbumin
A tetrameric protein, molecular weight between 50,000 and 70,000, consisting of 4 equal chains, and migrating on electrophoresis in 3 fractions more mobile than serum albumin. Its concentration ranges from 7 to 33 per cent in the serum, but levels decrease in liver disease.
Amyloidosis
A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.
Amyloid
A fibrous protein complex that consists of proteins folded into a specific cross beta-pleated sheet structure. This fibrillar structure has been found as an alternative folding pattern for a variety of functional proteins. Deposits of amyloid in the form of AMYLOID PLAQUES are associated with a variety of degenerative diseases. The amyloid structure has also been found in a number of functional proteins that are unrelated to disease.
Diabetic Neuropathies
Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)
Amyloid beta-Peptides
Peptides generated from AMYLOID BETA-PEPTIDES PRECURSOR. An amyloid fibrillar form of these peptides is the major component of amyloid plaques found in individuals with Alzheimer's disease and in aged individuals with trisomy 21 (DOWN SYNDROME). The peptide is found predominantly in the nervous system, but there have been reports of its presence in non-neural tissue.
Serum Amyloid A Protein
An ACUTE PHASE REACTION protein present in low concentrations in normal sera, but found at higher concentrations in sera of older persons and in patients with AMYLOIDOSIS. It is the circulating precusor of amyloid A protein, which is found deposited in AA type AMYLOID FIBRILS.
Peripheral Nervous System Diseases
Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and motor nerves.
Amyloid beta-Protein Precursor
A single-pass type I membrane protein. It is cleaved by AMYLOID PRECURSOR PROTEIN SECRETASES to produce peptides of varying amino acid lengths. A 39-42 amino acid peptide, AMYLOID BETA-PEPTIDES is a principal component of the extracellular amyloid in SENILE PLAQUES.
Plaque, Amyloid
Accumulations of extracellularly deposited AMYLOID FIBRILS within tissues.
Hereditary Sensory and Motor Neuropathy
A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)
Islet Amyloid Polypeptide
A pancreatic beta-cell hormone that is co-secreted with INSULIN. It displays an anorectic effect on nutrient metabolism by inhibiting gastric acid secretion, gastric emptying and postprandial GLUCAGON secretion. Islet amyloid polypeptide can fold into AMYLOID FIBRILS that have been found as a major constituent of pancreatic AMYLOID DEPOSITS.
Cerebral Amyloid Angiopathy
A heterogeneous group of sporadic or familial disorders characterized by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and MENINGES. Clinical features include multiple, small lobar CEREBRAL HEMORRHAGE; cerebral ischemia (BRAIN ISCHEMIA); and CEREBRAL INFARCTION. Cerebral amyloid angiopathy is unrelated to generalized AMYLOIDOSIS. Amyloidogenic peptides in this condition are nearly always the same ones found in ALZHEIMER DISEASE. (from Kumar: Robbins and Cotran: Pathologic Basis of Disease, 7th ed., 2005)
Hereditary Sensory and Autonomic Neuropathies
A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)
Optic Neuropathy, Ischemic
Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)
Serum Amyloid P-Component
Amyloid P component is a small, non-fibrillar glycoprotein found in normal serum and in all amyloid deposits. It has a pentagonal (pentaxin) structure. It is an acute phase protein, modulates immunologic responses, inhibits ELASTASE, and has been suggested as an indicator of LIVER DISEASE.
Polyneuropathies
Diseases of multiple peripheral nerves simultaneously. Polyneuropathies usually are characterized by symmetrical, bilateral distal motor and sensory impairment with a graded increase in severity distally. The pathological processes affecting peripheral nerves include degeneration of the axon, myelin or both. The various forms of polyneuropathy are categorized by the type of nerve affected (e.g., sensory, motor, or autonomic), by the distribution of nerve injury (e.g., distal vs. proximal), by nerve component primarily affected (e.g., demyelinating vs. axonal), by etiology, or by pattern of inheritance.
Sural Nerve
A branch of the tibial nerve which supplies sensory innervation to parts of the lower leg and foot.
Amyloid Precursor Protein Secretases
Endopeptidases that are specific for AMYLOID PROTEIN PRECURSOR. Three secretase subtypes referred to as alpha, beta, and gamma have been identified based upon the region of amyloid protein precursor they cleave.
Alzheimer Disease
A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)

Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. (1/76)

We report a middle-aged woman with a novel transthyretin (TTR) variant, Leu12Pro. She had extensive amyloid deposition in the leptomeninges and liver as well as the involvement of the heart and peripheral nervous system which characterizes familial amyloid polyneuropathy caused by variant TTR. Clinical features attributed to her leptomeningeal amyloid included radiculopathy, central hypoventilation, recurrent subarachnoid haemorrhage, depression, seizures and periods of decreased consciousness. MRI showed a marked enhancement throughout her meninges and ependyma, and TTR amyloid deposition was confirmed by meningeal biopsy. The simultaneous presence of extensive visceral amyloid and clinically significant deposits affecting both the peripheral and central nervous system extends the spectrum of amyloid-related disease associated with TTR mutations. The unusual association of severe peripheral neuropathy with symptoms of leptomeningeal amyloid indicates that leptomeningeal amyloidosis should be considered part of the syndrome of TTR-related familial amyloid polyneuropathy.  (+info)

Phase I trial of dolastatin-10 (NSC 376128) in patients with advanced solid tumors. (2/76)

Dolastatin-10 (dola-10) is a potent antimitotic peptide, isolated from the marine mollusk Dolabela auricularia, that inhibits tubulin polymerization. Preclinical studies of dola-10 have demonstrated activity against a variety of murine and human tumors in cell cultures and mice models. The purpose of this Phase I clinical trial was to characterize the maximum tolerated dose, pharmacokinetics, and biological effects of dola-10 in patients with advanced solid tumors. Escalating doses of dola-10 were administered as an i.v. bolus every 21 days, using a modified Fibonacci dose escalation schema. Pharmacokinetic studies were performed with the first treatment cycle. Neurological testing was performed on each patient prior to treatment with dola-10, at 6 weeks and at study termination. Thirty eligible patients received a total of 94 cycles (median, 2 cycles; maximum, 14 cycles) of dola-10 at doses ranging from 65 to 455 microg/m2. Dose-limiting toxicity of granulocytopenia was seen at 455 microg/m2 for minimally pretreated patients (two or fewer prior chemotherapy regimens) and 325 microg/m2 for heavily pretreated patients (more than two prior chemotherapy regimens). Nonhematological toxicity was generally mild. Local irritation at the drug injection site was mild and not dose dependent. Nine patients developed new or increased symptoms of mild peripheral sensory neuropathy that was not dose limiting. This toxicity was more frequent in patients with preexisting peripheral neuropathies. Pharmacokinetic studies demonstrated a rapid drug distribution with a prolonged plasma elimination phase (t 1/2z = 320 min). The area under the concentration-time curve increased in proportion to administered dose, whereas the clearance remained constant over the doses studied. Correlation analysis demonstrated a strong relationship between dola-10 area under the concentration-time curve values and decrease from baseline for leukocyte counts. In conclusion, dola-10 administered every 3 weeks as a peripheral i.v. bolus is well tolerated with dose-limiting toxicity of granulocytopenia. The maximum tolerated dose (and recommended Phase II starting dose) is 400 microg/m2 for patients with minimal prior treatment (two or fewer prior chemotherapy regimens) and 325 microg/m2 for patients who are heavily pretreated (more than two prior chemotherapy regimens).  (+info)

1H-NMR structural studies of a cystine-linked peptide containing residues 71-93 of transthyretin and effects of a Ser84 substitution implicated in familial amyloidotic polyneuropathy. (3/76)

The Ile-->Ser84 substitution in the thyroid hormone transport protein transthyretin is one of over 50 variations found to be associated with familial amyloid polyneuropathy, a hereditary type of lethal amyloidosis. Using a peptide analogue of the loop containing residue 84 in transthyretin, we have examined the putative local structural effects of this substitution using 1H-NMR spectroscopy. The peptide, containing residues 71-93 of transthyretin with its termini linked via a disulfide bond, was found to possess the same helix-turn motif as in the corresponding region of the crystallographically derived structure of transthyretin in 20% trifluoroethanol (TFE) solution. It therefore, represents a useful model with which to examine the effects of amyloidogenic substitutions. In a peptide analogue containing the Ile84-->Ser substitution it was found that the substitution does not greatly disrupt the overall three-dimensional structure, but leads to minor local differences at the turn in which residue 84 is involved. Coupling constant and NOE measurements indicate that the helix-turn motif is still present, but differences in chemical shifts and amide-exchange rates reflect a small distortion. This is in keeping with observations that several other mutant forms of transthyretin display similar subunit interactions and those that have been structurally analysed possess a near native structure. We propose that the Ser84 mutation induces only subtle perturbations to the transthyretin structure which predisposes the protein to amyloid formation.  (+info)

Role of sympathetic nervous system in cyclosporine-induced rise in blood pressure. (4/76)

To clarify the role of the sympathetic nervous system in the development of cyclosporine A (CsA)-induced rise in blood pressure (BP), the effects of CsA on 24-hour ambulatory BP (ABP) were studied in patients with familial amyloid polyneuropathy (FAP) who underwent a liver transplantation. On the basis of autonomic function tests, patients with absent or mild-to-moderate sympathetic damage (Group A, n=11, age 29 to 43 years, disease duration 2 to 6 years) and patients with severe sympathetic damage (Group B, n=9, age 27 to 38 years, disease duration 3 to 9 years) were identified. Both groups were followed for 1 year. The daily doses of CsA and the CsA whole blood trough levels between the groups did not differ. Pretransplantation values of daytime and nighttime ABP were, respectively, 117+/-8/76+/-7 mm Hg and 108+/-12/68+/-9 mm Hg in group A and 107+/-6/66+/-4 mm Hg (P<0.05 group A versus group B) and 102+/-6/62+/-4 mm Hg in group B. In response to CsA, BP increased in all patients, but more so in patients of group B than in patients of group A. One year after transplantation, daytime and nighttime ABP had increased by 6+/-9/3+/-11% and 12+/-10/14+/-14% in group A and by 12+/-6/13+/-10% (P<0.05) and 21+/-11/27+/-21% (P<0.01) in group B. In both groups, the increase in nighttime ABP was greater than the increase in daytime ABP, which resulted in an attenuation or, even, a reversal of the diurnal BP rhythm. Because the rise in BP was greater in patients with more advanced sympathetic dysfunction, the sympathetic nervous system appears to counteract the CsA-induced rise in BP rather than causing it. This implies involvement of factors other than sympathetic activation in the pathogenesis of CsA-induced rise in BP in patients with familial amyloid polyneuropathy.  (+info)

Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay. (5/76)

Mutation of the transthyretin (TTR) plasma protein and gene in a Japanese patient with amyloid polyneuropathy was investigated by electrospray ionization mass spectrometry (ESI-MS) and nonisotopic RNase cleavage assay (NIRCA), respectively. ESI-MS analysis showed normal TTR peaks and additionally a variant TTR with 12-dalton-higher molecular weight than normal TTR. NIRCA suggested that the mutation existed near either the 5' or 3' end of exon 3. Direct DNA sequencing revealed both a normal ACC (threonine) and a variant ATC (isoleucine) at codon 49, which was located near the 5' end of exon 3. The molecular weight shift of this mutation was 12 D, consistent with the result of ESI-MS.  (+info)

Regulation of neural differentiation by normal and mutant (G654A, amyloidogenic) gelsolin. (6/76)

Gelsolin belongs to a family of proteins that modulate the structural dynamics of cytoskeletal actin. Gelsolin activity is required for the redistribution of actin occurring during membrane ruffling, cell crawling, and platelet activation. A point mutation (G654A) in the gelsolin gene causes a dominantly inherited systemic amyloidosis called familial amyloidosis of the Finnish type (FAF). This disease is characterized by a cranial neuropathy that cannot be explained solely by amyloid deposits. To address the question of whether gelsolin has a specific role in neural cell development, we transfected cDNA for wild type and G654A point-mutated gelsolin into a neural cell line, Paju, which can be induced to differentiate by treatment with phorbol 12-myristate 13-acetate. Overexpressed wild type gelsolin inhibited neural differentiation whereas mutated gelsolin did not, indicating that appropriate gelsolin activity is essential for neural sprouting. The G654A mutant gelsolin induced stabilization of F-actin and reduced the plasticity of neural development. This provides a novel etiopathogenetic mechanism for the neuronal dysfunction in FAF.  (+info)

Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. (7/76)

Twin studies are an important tool in medical genetics for the evaluation of the relative roles of genetic and non-genetic factors in several diseases. Familial amyloidotic polyneuropathy type I (FAP-I), TTR Met 30, was present in two sets of proven monozygotic (MZ) twins, one from Majorca and the other from Portugal. Monozygosity was established by analysis of DNA polymorphisms. Both pairs were discordant for age at onset and some clinical manifestations of FAP-I. We reviewed the differences in age at onset and clinical features in both sets and in two other pairs of presumed MZ twins with FAP-I and compared them with those in MZ twin pairs with other Mendelian disorders, such as neurofibromatosis type 1, Huntington's disease, facioscapulohumeral muscular dystrophy, and myotonic dystrophy. We conclude that, in addition to the postulated modifying genes, there must be a significant contribution from non-genetic factors to the phenotypic variability of FAP-I (age at onset and clinical expression), either because of environmental differences or stochastic events during (or after) the twinning process.  (+info)

Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features. (8/76)

Clinicopathological and genetic features were assessed on 35 Japanese families affected by late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy, FAP TTR Met30) whose siblings were unrelated to endemic Japanese foci. In these patients (50 years or older), the most common initial symptom was paraesthesias in the legs. Autonomic symptoms were generally mild and did not seriously affect daily activities. The male-to-female ratio was extremely high (10.7 : 1). A family history was evident in only 11 out of 35 families, and other patients were apparently sporadic. The rate of penetrance was very low. Symptomatic siblings of familial cases showed a late age of onset, male preponderance and clinical features similar to those of the probands. Asymptomatic carriers, predominantly female, were detected relatively late in life. The geographical distribution of these late-onset, FAP TTR Met30 cases was scattered throughout Japan. In three autopsy cases and 20 sural nerve biopsy specimens, neurons in sympathetic and sensory ganglia were relatively preserved. Amyloid deposition was seen in the peripheral nervous system, particularly in the sympathetic ganglia, dorsal root ganglia and proximal nerve trunks such as sciatic nerve. These abnormalities were milder than those seen in typical early-onset FAP TTR Met30, as observed in two Japanese endemic foci of this disease. While axonal degeneration was prominent in myelinated fibres, resulting in severe fibre loss, unmyelinated fibres were relatively preserved. Our cases of late-onset FAP TTR Met30 showed features distinct from those of typical early-onset FAP TTR Met30 that occurred in the two Japanese endemic foci. Factors responsible for clinicopathological differences between these two forms of FAP TTR Met30 need to be identified.  (+info)

Ocular manifestations of familial amyloidotic polyneuropathy type I: long term follow up | British Journal of OphthalmologyOcular manifestations of familial amyloidotic polyneuropathy type I: long term follow up | British Journal of Ophthalmology
Ocular manifestations in 37 patients with FAP type I (Met30) were presented through long term follow up in Arao district, Kumamoto, Japan, which is one of the most well known endemic areas for this disease.4 16 Statistical analysis revealed that ACV showed the highest incidence among the ocular disorders. The incidence of KCS, pupillary abnormality, vitreous opacity, and glaucoma followed ACV. It is well documented that amyloid deposition is commonly found in the perivascular area2 3 so ACV may reflect the microscopic changes in the vessels.. It is believed that unmyelinated fibres, which correspond to autonomic nerve fibres, are first impaired during the course of the disease.17 In fact, many ordinary FAP patients start to develop autonomic dysfunctions before sensory dominant polyneuropathy.1 We previously reported that ACV are possibly induced by autonomic nervous dysfunction as well as amyloid deposition around the vessels themselves because all patients we examined with pandysautonomia ...
https://bjo.bmj.com/content/81/4/295
Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease ...
Familial amyloid polyneuropathy type I is an autosomal dominant disorder caused by mutations in the transthyretin (TTR) gene; however, carriers of the same mutation exhibit variability in penetrance and clinical expression. We analyzed alleles of candidate genes encoding non-fibrillar components of TTR amyloid deposits and a molecule metabolically interacting with TTR [retinol-binding protein (RBP)], for possible associations with age of disease onset and/or susceptibility in a Portuguese population sample with the TTR V30M mutation and unrelated controls. We show that the V30M carriers represent a distinct subset of the Portuguese population. Estimates of genetic distance indicated that the controls and the classical-onset group were furthest apart, whereas the late-onset group appeared to differ from both. Importantly, the data also indicate that genetic interactions among the multiple loci evaluated, rather than single-locus effects, are more likely to determine differences in the age of ...
http://oxfordindex.oup.com/view/10.1093/hmg/ddi051
Complement activation in acquired and hereditary amyloid neuropathy<...
TY - JOUR. T1 - Complement activation in acquired and hereditary amyloid neuropathy. AU - Hafer-Macko, Charlene E.. AU - Dyck, Peter J. AU - Koski, Carol Lee. PY - 2000. Y1 - 2000. N2 - The pathogenesis of the axonal degeneration in acquired or hereditary amyloidosis is unknown. In this immunohistochemistry study, we examined 20 sural nerve biopsies from individuals with amyloid neuropathy (14 acquired and 6 hereditary) for evidence of complement activation. Complement activation products were detected on and around amyloid deposits within peripheral nerves. We found no difference in the extent, location or pattern of complement activation products between the 2 forms of amyloidosis. The presence of early classical pathway activation markers in the absence of antibody in hereditary cases suggests an antibody-independent activation of the classical pathway through binding of C1q. The lack of Factor Bb-suggested alternative pathway activation was not significant in these cases. The detection of ...
https://mayoclinic.pure.elsevier.com/en/publications/complement-activation-in-acquired-and-hereditary-amyloid-neuropat
Polyneuropathy Types, Causes, Symptoms, and Treatment - HMR
A person develops polyneuropathy when his peripheral nerves are damaged. Peripheral nerves run throughout your body. This disease, polyneuropathy effect
https://healthmagreviews.com/polyneuropathy-types-causes-symptoms-treatment/
Familial amyloidosis with polyneuropathy type 1 caused by transthyretin mutation Val50Met (Val30Met): 4 cases in a non-endemic...Familial amyloidosis with polyneuropathy type 1 caused by transthyretin mutation Val50Met (Val30Met): 4 cases in a non-endemic...
TTR gene sequencing was ordered, revealing the Val50Met mutation in heterozygosis.. Patient 3. The patient was a 32-year-old woman from Portugal; her deceased father had been diagnosed with TTR-FAP due to the Val50Met mutation. Her fathers 4 siblings (2 men and 2 women) and both paternal grandparents displayed the same disease. She attended our department in 2006 for a genetic study. The physical and neurological examinations and laboratory and neurophysiological studies performed at the time yielded normal results. The genetic study detected the same mutation in heterozygosis. The patient received genetic counselling and preimplantation genetic diagnosis, as she intended to have children. In July 2015, she attended a consultation at our department due to intense low back pain radiating to both lower limbs, together with burning and tingling sensations, allodynia, and oedema in the feet. A month earlier, she experienced alternating diarrhoea and constipation and marked abdominal distension. The ...
https://www.elsevier.es/en-revista-neurologia-english-edition--495-articulo-familial-amyloidosis-with-polyneuropathy-type-S2173580818301159
AMYLOID NEUROPATHIES, FAMILIAL | SelfDecode | Genome AnalysisAMYLOID NEUROPATHIES, FAMILIAL | SelfDecode | Genome Analysis
Use SelfDecode to get personalized health recommendations based on your genes. Get started today with an existing DNA file or order a SelfDecode DNA kit!
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PGM06 | Institute of Information Theory and Automation
Prague is the capital of the Czech Republic. Since the Middle Ages Prague has been famous as one of the most beautiful cities of the world, and has been attributed adjectives such as golden, hundred-spired, the crown of the world, and a stone dream. In 1992 the historical core of the city, covering 866 hectares, was listed in the UNESCO World Cultural and Natural Heritage Register. Prague represents a unique collection of historical monuments dominated by the Prague Castle, which towers high above the city. It is a specimen of all artistic styles and movements. ...
http://www.utia.cas.cz/MTR/pgm06
Familial Amyloid Polyneuropathy Therapeutics Market Key Insights, Share, Current Trends, key Players and Geographical Overview...
Familial Amyloid Polyneuropathy Therapeutics Market , 2021 Share, Growth, Trends, Demand, Key Players Analysis Report is latest report on Global Familial Amyloid Polyneuropathy Therapeutics Market Industry Published by Fortune Business Insights. Report covers key business segments and wide scope geographies to get deep dive analyzed industry data.. The company profiles of top Market players will provide financial analysis listing the company revenue, and market share. The past and present revenue of top players will offer forecast revenue estimates and growth rates. Familial Amyloid Polyneuropathy Therapeutics Market Industry Research Report provide the details about Industry Overview and analysis about Manufacturing Cost Structure, Revenue, Gross Margin, Consumption Value and Sale Price, Major Manufacturers, Distributors with Development Trends and Forecast 2026.. Browse More Information on This ...
https://elmiradaily.com/familial-amyloid-polyneuropathy-therapeutics-market-key-insights-share-current-trends-key-players-and-geographical-overview-till-2026-2/18122/
Efficacy and Safety of IONIS-TTR Rx in Familial Amyloid Polyneuropathy - Full Text View - ClinicalTrials.govEfficacy and Safety of IONIS-TTR Rx in Familial Amyloid Polyneuropathy - Full Text View - ClinicalTrials.gov
Familial Amyloid Polyneuropathy (FAP) is a rare, hereditary disease caused by mutations in the transthyretin (TTR) protein. TTR is made by the liver and secreted into the blood. TTR mutations cause it to misfold and deposit in multiple organs causing FAP.. IONIS-TTR Rx is an antisense drug that is designed to decrease the amount of mutant and normal TTR made by the liver. It is predicted that decreasing the amount of TTR protein will result in a decrease in the formation of TTR deposits, and thus slow or stop disease progression.. The purpose of this study is to determine if IONIS-TTR Rx can slow or stop the nerve damage caused by TTR deposits. This study will enroll late Stage 1 and early Stage 2 FAP patients. Patients will receive either IONIS-TTR Rx or placebo for 65 weeks. ...
https://clinicaltrials.gov/ct2/show/NCT01737398?term=TTR&rank=9
Efficacy and Safety of IONIS-TTR Rx in Familial Amyloid Polyneuropathy - Full Text View - ClinicalTrials.govEfficacy and Safety of IONIS-TTR Rx in Familial Amyloid Polyneuropathy - Full Text View - ClinicalTrials.gov
Familial Amyloid Polyneuropathy (FAP) is a rare, hereditary disease caused by mutations in the transthyretin (TTR) protein. TTR is made by the liver and secreted into the blood. TTR mutations cause it to misfold and deposit in multiple organs causing FAP.. IONIS-TTR Rx is an antisense drug that is designed to decrease the amount of mutant and normal TTR made by the liver. It is predicted that decreasing the amount of TTR protein will result in a decrease in the formation of TTR deposits, and thus slow or stop disease progression.. The purpose of this study is to determine if IONIS-TTR Rx can slow or stop the nerve damage caused by TTR deposits. This study will enroll late Stage 1 and early Stage 2 FAP patients. Patients will receive either IONIS-TTR Rx or placebo for 65 weeks. ...
https://clinicaltrials.gov/ct2/show/NCT01737398?recr=Open&cond=%22Family%22&rank=7
Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area ...Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area ...
Background: Familial amyloid polyneuropathy related to transthyretin gene (TTR-FAP) is a life-threatening disease transmitted as an autosomal dominant trait. Val30Met mutation accounts for the majority of the patients with large endemic foci especia
https://content.iospress.com/articles/journal-of-neuromuscular-diseases/jnd150091
Familial amyloid polyneuropathy (FAP), in an inborn habitat of Hiroshima Prefecture, Japan<...
TY - JOUR. T1 - Familial amyloid polyneuropathy (FAP), in an inborn habitat of Hiroshima Prefecture, Japan. AU - Nitta, K.. AU - Kito, S.. AU - Harada, T.. AU - Sakaki, Y.. AU - Sasaki, H.. PY - 1986/9/1. Y1 - 1986/9/1. UR - http://www.scopus.com/inward/record.url?scp=0022784075&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0022784075&partnerID=8YFLogxK. M3 - Article. C2 - 3791769. AN - SCOPUS:0022784075. VL - 26. SP - 903. EP - 906. JO - Clinical Neurology. JF - Clinical Neurology. SN - 0009-918X. IS - 9. ER - ...
https://kyushu-u.pure.elsevier.com/ja/publications/familial-amyloid-polyneuropathy-fap-in-an-inborn-habitat-of-hiros
Familial Amyloid Polyneuropathy Partners Ainlyum and Sanofi End Their AgreementFamilial Amyloid Polyneuropathy Partners Ainlyum and Sanofi End Their Agreement
Read about Alnylam Pharmaceuticals and Sanofi dissolving the partnership they formed to develop two familial amyloid polyneuropathy therapies.
https://fapnewstoday.com/2018/01/11/alnylam-and-sanofi-dissolve-their-familial-amyloid-polyneuropathy-therapy-partnership/
New Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP) medicines, recently approved | TheSocialMedworkNew Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP) medicines, recently approved | TheSocialMedwork
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https://thesocialmedwork.com/shop/neurological-diseases?disease_type_neurological_dise=385
Ophtalmologic changes in transthyretin familial amyloid polyneuropathy (ATTR-FAP) | Orphanet Journal of Rare Diseases | Full...Ophtalmologic changes in transthyretin familial amyloid polyneuropathy (ATTR-FAP) | Orphanet Journal of Rare Diseases | Full...
The most specific ocular manifestations of ATTR-FAP are deposits on lens anterior capsule and pupillary border, scalloped pupil and vitreous amyloidosis and the most severe one is glaucoma.. Amyloid deposits on anterior lens surface are central, disciform opacities with more dense border. Amyloid deposits on pupillary border are irregularities of white membranous material. Scalloped pupil, an irregular outlines and fringed edges of pupil, is pathognomonic of ATTR-FAP.. Peculiar vitreous opacities are the most common specific change of late onset TTR Met30Val population. There are four types of amyloid vitreous opacities: pseudopodia lentis, fibrils, spherical opacities and pre-vascular opacities. Pseudopodia lentis and typical fibrils, since numerous and dense, are also pathognomonic.. Dry eye is a common ocular change in FAP but a non specific. Signs of keratoconjunctivitis sicca like diminution of Break Up Time and punctata epitheliopathy are frequent and complications like corneal ...
https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-10-S1-I9
Curcumin could reduce the monomer of TTR with Tyr114Cys mutation via a | DDDTCurcumin could reduce the monomer of TTR with Tyr114Cys mutation via a | DDDT
Curcumin could reduce the monomer of TTR with Tyr114Cys mutation via autophagy in cell model of familial amyloid polyneuropathy Hui Li,1,* Yu Zhang,1,* Li Cao,1 Ran Xiong,1 Bei Zhang,1 Li Wu,1 Zongbo Zhao,1 Sheng-Di Chen1,2 1Department of Neurology and Institute of Neurology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, 2Key Laboratory of Stem Cell Biology and Laboratory of Neurodegenerative Diseases, Institute of Health Science, Shanghai Institutes of Biological Sciences, Chinese Academy of Science, and Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China *These authors contributed equally to this work Abstract: Transthyretin (TTR) familial amyloid polyneuropathy (FAP) is an autosomal ­dominant inherited neurodegenerative disorder caused by various mutations in the transthyretin gene. We aimed to identify the mechanisms underlying TTR FAP with Tyr114Cys (Y114C) mutation. Our study showed that TTR
https://www.dovepress.com/curcumin-could-reduce-the-monomer-of-ttr-with-tyr114cys-mutation-via-a-peer-reviewed-article-DDDT
A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family. | Journal of...A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family. | Journal of...
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Centers RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.. ...
https://jmg.bmj.com/content/30/2/120.info
Familial Amyloid Polyneuropathy treatment with Tafamidis - evaluation of one- and two-year treatment in Porto, Portugal |...Familial Amyloid Polyneuropathy treatment with Tafamidis - evaluation of one- and two-year treatment in Porto, Portugal |...
163 patients (92 males), with a mean age of 41.04 ± 11.68 years [26-80] and a mean duration of disease of 29.66 ± 17.48 months [4-90], completed a 12M evaluation. Body mass index remained stable throughout these 12M (3.13 vs. 3.14, p,0.008).. Mean NIS score decreased from baseline to 12M (2.35 vs. 2.34, p,0.694, ns) and Norfolk score improved between baseline and 12M (3.03 vs. 2.74, p,0.000).. Responders (n=112, 68,7%) showed a significant NIS-score decrease between baseline and 12M (2.24 vs. 2.05, p,0.000). Non-responders showed a significant increase across one year (2.56 vs. 2.88, p,0.000). Nonetheless, even in this group there was a Norfolk decreased in the same period (3.27 vs. 3.06, p,0.020).. The group that completed a 24M evaluation consisted of 104 patients (56 males), with a mean age of 40.04 ± 10.14 years [26-76] and a mean duration of disease of 32.03 ± 17.97 months [4-77]. Once again, body mass index remained stable throughout 24M (3.12 vs. 3.13, p,0.414, ns).. Mean NIS score ...
https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-10-S1-O25
Common Rx Could Slow Neurodegenerative Disease | CARE Pharmacies Cooperative...Common Rx Could Slow Neurodegenerative Disease | CARE Pharmacies Cooperative...
NSAID Dolobid inhibited familial amyloid polyneuropathy progression(dailyRx News) Familial amyloid polyneuropathy is a very rare condition. New research shows
http://carepharmacies.com/blog/common-rx-could-slow-neurodegenerative-disease/
Effect of albumin on transthyretin and amyloidogenic transthyretin Val30Met disposition and tissue deposition in familial...
TY - JOUR. T1 - Effect of albumin on transthyretin and amyloidogenic transthyretin Val30Met disposition and tissue deposition in familial amyloidotic polyneuropathy. AU - Taguchi, Kazuaki. AU - Jono, Hirofumi. AU - Kugimiya-Taguchi, Tomoe. AU - Nagao, Saori. AU - Su, Yu. AU - Yamasaki, Keishi. AU - Mizuguchi, Mineyuki. AU - Maruyama, Toru. AU - Ando, Yukio. AU - Otagiri, Masaki. PY - 2013/12/18. Y1 - 2013/12/18. N2 - Aims: Transthyretin (TTR)-related familial amyloidotic polyneuropathy (FAP) is characterized by the systemic accumulation of amyloid fibrils caused by amyloidogenic. Our previous studies demonstrated that albumin played a role in the inhibition of TTR amyloid-formation. The aim of this study was to evaluate the effect of albumin on TTR disposition and tissue deposition in vivo. Main methods: For pharmacokinetic studies, recombinant wild-type TTR (rTTR) and recombinant amyloidogenic TTR Val30Met (rATTR V30M) were labeled with iodine and administered to Sprague-Dawley rats and ...
https://keio.pure.elsevier.com/en/publications/effect-of-albumin-on-transthyretin-and-amyloidogenic-transthyreti
Nerves and neuropathy
Homes.bio.psu.edu • The cells bodies that make these axons sit in the spinal cord and in brainstem and send out axons that contact - Salivary glands in the mouth - Tear glands in the eye - Muscle in the walls of blood vessels - Muscle in the walls of the stomach and What is Neuropathy? • Neuropathy is a general term meaning damage to a nerve • One nerve = mononeuropathy - Example carpal tunnel syndrome • Many nerves = polyneuropathy - Also called peripheral neuropathy Nerve Damage in amyloidosis • Seen in most types - Primary (AL) - Inherited • TTR - also called Familial Amyloid Polyneuropathy • Gelsolin • ILE122 (though not common) - Not typically seen • AA amyloid • Focal amyloid Nerve Damage in Amyloidosis • Can be one nerve - Carpal tunnel syndrome • Can be multiple (but not all) nerves • Can be generalized disorder of nerves - Amyloid polyneuropathy = peripheral Amyloid Polyneuropathy • Axonal, length-dependent, symmetrical, dying- - Axon itself is damaged • ...
http://gotomydoctor.com/a/amyloidosissupport.org1.html
Single-centre experience of liver transplantation for familial amyloidotic polyneuropathy of non-Val30Met variants in Chinese...Single-centre experience of liver transplantation for familial amyloidotic polyneuropathy of non-Val30Met variants in Chinese...
A free platform for explaining your research in plain language, and managing how you communicate around it - so you can understand how best to increase its impact.
https://www.growkudos.com/publications/10.3109%252F13506129.2012.655867/reader
Trans-Suppression of Misfolding in an Amyloid Disease -- Hammarström et al. 2001 (2): 18 -- <i>Science</i...Trans-Suppression of Misfolding in an Amyloid Disease -- Hammarström et al. 2001 (2): 18 -- <i>Science</i...
Per Hammarstr�m, Frank Schneider, and Jeffery W. Kelly http://sageke.sciencemag.org/cgi/content/abstract/sageke;2001/2/or18 Abstract: Science 293, 2459-2462 (2001).. The transthyretin (TTR) amyloid diseases, representative of numerous misfolding disorders, are of considerable interest because there are mutations that cause or suppress disease. The Val30>Met30 (V30M) TTR mutation is the most prevalent cause of familial amyloid polyneuropathy in heterozygotes, whereas a Thr119>Met119 (T119M) mutation on the second TTR allele protects V30M carriers from disease. Here, we show that the incorporation of one or more T119M TTR subunits into a predominantly V30M tetramer strongly stabilized the mixed tetramer against dissociation. Dissociation is required for amyloid formation, so these findings provide a molecular explanation for intragenic trans-suppression of amyloidosis. The data also suggest a potential therapeutic strategy, provide insight into tissue-specific deposition and amyloid composition, ...
http://sageke.sciencemag.org/cgi/content/abstract/2001/2/or18
Most recent papers with the keyword Cardiac amyloid | Read by QxMDMost recent papers with the keyword Cardiac amyloid | Read by QxMD
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a progressive, fatal, inherited disorder first identified in Portugal and now recognized in all continents. Over the past decade, thanks to the availability of the genetic test, our knowledge on the range of clinical expressions of this disorder has expanded, including different patterns and progression rates of the neuropathy, as well as aspects of the cardiomyopathy, which can be prominent. In the mean time, new tools are being developed to detect earlier TTR amyloid deposition such as cardiac scintigraphy with technetium-labelled pyrophosphate tracers or small nerve fiber alterations from skin biopsies, or using neurophysiological approaches as well as magnetic resonance neurography (MRN ...
https://www.readbyqxmd.com/keyword/73673
Journal of Neuromuscular Diseases - Volume 2, issue s2 - Journals - IOS PressJournal of Neuromuscular Diseases - Volume 2, issue s2 - Journals - IOS Press
Authors: Mazzeo, Anna , Russo, Massimo , Di Bella, Gianluca , Minutoli, Fabio , Stancanelli, Claudia , Gentile, Luca , Baldari, Sergio , Carerj, Scipione , Toscano, Antonio , Vita, Giuseppe Article Type: Research Article Abstract: Background: Familial amyloid polyneuropathy related to transthyretin gene (TTR-FAP) is a life-threatening disease transmitted as an autosomal dominant trait. Val30Met mutation accounts for the majority of the patients with large endemic foci especially in Portugal, Sweden and Japan. However, more than one hundred other mutations have been described worldwide. A great phenotypic variability among patients with late- and early-onset has been reported. Objective: To present a detailed report of TTR-FAP patients diagnosed in our tertiary neuromuscular center, in a 20-year period. Methods: Clinical informations were gathered through the database of our center. …Results: The study involved 76 individuals carrying a TTR-FAP mutation. Three phenotypes were identified, each ...
https://content.iospress.com/journals/journal-of-neuromuscular-diseases/2/s2?rows=50
Most recent papers with the keyword Nerve entrapment upper limb | Read by QxMDMost recent papers with the keyword Nerve entrapment upper limb | Read by QxMD
OBJECTIVE: To systematically study peripheral nerve morphology in patients with transthyretin (TTR) amyloidosis and TTR gene mutation carriers using high-resolution ultrasonography (US). METHODS: In this prospective cross-sectional study we took a structured history, performed neurological examination, and measured peripheral nerve cross-sectional areas (CSAs) bilaterally at 28 standard locations using US. Demographic and US findings were compared to controls. RESULTS: Peripheral nerve CSAs were significantly larger in 33 patients with familial amyloid polyneuropathy (FAP) compared to 50 controls, most dramatically at the common entrapment sites (median nerve at the wrist, ulnar nerve at the elbow), and in the proximal nerve segments (median nerve in the upper arm, sciatic nerve in the thigh ...
https://www.readbyqxmd.com/keyword/35266
Gene-Silencing Drugs Finally Show Promise | MIT Technology ReviewGene-Silencing Drugs Finally Show Promise | MIT Technology Review
The disease starts with a feeling of increased clumsiness. Spilling a cup of coffee. Stumbling on the stairs. Having accidents that are easy to dismiss-everyone trips now and then. But it inevitably gets worse. Known as familial amyloid polyneuropathy, or FAP, it can go misdiagnosed for years as patients lose the ability to walk or…
https://www.technologyreview.com/2014/09/14/171394/gene-silencing-drugs-finally-show-promise/
FDA Staff Pans Drug for Rare Nerve Disease | Medpage TodayFDA Staff Pans Drug for Rare Nerve Disease | Medpage Today
WASHINGTON -- An investigational drug to treat familial amyloid polyneuropathy, a rare neurodegenerative disease, should not be approved, according to FDA reviewers.
https://www.medpagetoday.com/neurology/generalneurology/32854
All News | ALZFORUMAll News | ALZFORUM
By stopping familial amyloid polyneuropathy in its tracks, a repurposed anti-inflammatory medication supports the idea that artificial chaperones can prevent protein aggregation.. ...
https://www.alzforum.org/all-news?fq%5B%5D=ds_search_date:%5B2013-12-23T12:00:38Z%20TO%202013-12-30T12:00:38Z%5D
Amyloid Neuropathy, Familial - Medical Dictionary online-medical-dictionary.orgAmyloid Neuropathy, Familial - Medical Dictionary online-medical-dictionary.org
Inherited disorders of the Peripheral Nervous System associated with the deposition of Amyloid in nerve Tissue. The different clinical types based on symptoms correspond to the presence of a variety of Mutations in several different Proteins including Transthyretin (Prealbumin); Apolipoprotein A-I; and Gelsolin ...
http://www.online-medical-dictionary.org/definitions-a/amyloid-neuropathy-familial.html
ALZFORUM | NETWORKING FOR A CUREALZFORUM | NETWORKING FOR A CURE
There are some interesting points in the study from the Sun lab that seem to add to general themes found in diseases associated with amyloid aggregation. In all of these diseases, inclusions consisting of an endogenously produced protein mark the progression of the disease. What exactly causes the previously soluble and physiological form of the protein to change conformation into a pathological form and aggregate is in most cases unclear.. In the case of transthyretin (TTR), a serum protein involved in familial amyloidotic polyneuropathy, a destabilization event induced by either a missense mutation or an external insult leads to depolymerization of the natively tetrameric protein, which then leaves it open to amyloidogenic polymerization (Quintas et al., 1999). The native form, stabilized by its natural ligand thyroxin, is aggregation-resistant. Our lab has recently discovered that a very similar situation can be found for α-synuclein (αS), a mostly neuronally expressed protein of unknown ...
https://www.alzforum.org/papers/structural-mechanism-serum-amyloid-mediated-inflammatory-amyloidosis
Janice Wiesman | School of MedicineJanice Wiesman | School of Medicine
Published on 4/7/2017. Dyck PJ, Kincaid JC, Dyck PJB, Chaudhry V, Goyal NA, Alves C, Salhi H, Wiesman JF, Labeyrie C, Robinson-Papp J, Cardoso M, Laura M, Ruzhansky K, Cortese A, Brannagan TH, Khoury J, Khella S, Waddington-Cruz M, Ferreira J, Wang AK, Pinto MV, Ayache SS, Benson MD, Berk JL, Coelho T, Polydefkis M, Gorevic P, Adams DH, Plante-Bordeneuve V, Whelan C, Merlini G, Heitner S, Drachman BM, Conceição I, Klein CJ, Gertz MA, Ackermann EJ, Hughes SG, Mauermann ML, Bergemann R, Lodermeier KA, Davies JL, Carter RE, Litchy WJ. Assessing mNIS+7Ionis and international neurologists proficiency in a familial amyloidotic polyneuropathy trial. Muscle Nerve. 2017 Nov; 56(5):901-911. PMID: 28063170.. Read at: PubMed ...
http://www.bumc.bu.edu/busm/profile/janice-wiesman/
Primary amyloidosis Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.comPrimary amyloidosis Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com
Primary amyloidosis information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
http://www.rightdiagnosis.com/p/primary_amyloidosis/intro.htm
NLP SNP
This is an open-label, multicenter, international study designed to determine TTR stabilization as well as Fx-1006A safety and tolerability, and its effects on clinical outcomes in patients with non-V30M TTR amyloidosis. Strong pre-clinical and clinical evidence support a daily dose of 20 mg of Fx-1006A to be the optimum dose to achieve stabilization of tetrameric TTR in ATTR-PN patients. Since disease presentation is similar between V30M and non-V30M TTR mutations associated with ATTR-PN and Fx-1006A has been shown to stabilize wild-type and V30M TTR in vitro and ex vivo, the present study is being conducted to determine the effects of Fx-1006A on TTR stabilization in ATTR-PN patients with TTR mutations other than V30M. Safety and exploratory efficacy of Fx-1006A administered once daily for 12 months will also be evaluated in this patient population. This is an open-label, multicenter, international study designed to determine TTR stabilization as well as Fx-1006A safety and tolerability, and ...
https://snpminertrials.s3.amazonaws.com/proteinmutation/mutation/L58H.html
SWISS-MODEL Template Library | 4qya.1
SWISS-MODEL Template Library (SMTL) entry for 4qya.1. Crystal structure of human transthyretin variant V30M in complex with luteolin
https://swissmodel.expasy.org/templates/4qya
Cerebral amyloidoma mimicking intracranial tumor: a case report | Springer for Research & DevelopmentCerebral amyloidoma mimicking intracranial tumor: a case report | Springer for Research & Development
Introduction Cerebral amyloidoma is an infrequently recognized condition that can be confused with a more malignant etiology. Few cases have been reported. We present a case report and a review of the...
https://rd.springer.com/article/10.1186/1752-1947-4-308
Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de Andrades Disease) - Pipeline Review, H1 2014- CFDMaster...Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de Andrades Disease) - Pipeline Review, H1 2014- CFDMaster...
Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de Andrades Disease) - Pipeline Review, H1 2014. Summary. Global Markets Direct s, Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de Andrades Disease) - Pipeline Review, H1 2014, provides an overview of the indication s therapeutic pipeline. This report provides information on the therapeutic development for Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de Andrades Disease), complete with latest updates, and special features on late-stage and discontinued projects. It also reviews key players involved in the therapeutic development for Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de Andrades Disease). Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de Andrades Disease) - Pipeline Review, Half Year is built using data and information sourced from Global Markets Direct s proprietary databases, Company/University websites, SEC filings, investor ...
http://au.cfdmaster.com/familial-amyloid-polyneuropathy-transthyretin-amyloidosis-corino-de-andrades-disease-pipeline-review-h1-2014-3-20140131/
Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino De Andrades Disease) - Pipeline Review, H1 2014 | Feb 14,...Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino De Andrades Disease) - Pipeline Review, H1 2014 | Feb 14,...
Press Release issued Feb 14, 2014: Reportstack, provider of premium market research reports announces the addition of Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de Andrades Disease) - Pipeline Review, H1 2014 market report to its offering Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis, Corino de Andrades Disease) - Pipeline Review, H1 2014
http://www.sbwire.com/press-releases/familial-amyloid-polyneuropathy-transthyretin-amyloidosis-corino-de-andrades-disease-pipeline-review-h1-2014-460942.htm
Blood pressure overshoot after tilt reversal in patients with familial amyloidotic polyneuropathyBlood pressure overshoot after tilt reversal in patients with familial amyloidotic polyneuropathy
The pathophysiology of the hemodynamic responses to postural stress in familial amyloidotic polyneuropathy (FAP) remains to be elucidated. The aim of the study was to evaluate hemodynamic responses after tilt reversal in FAP. Systolic blood pressure (BP) and heart rate variability (HRV) were analyzed in the baseline, 70° upright position, and after tilt reversal in 15 FAP patients and 14 healthy controls. Beat-to-beat BP was recorded with a Finapres device. Maximum systolic BP after tilt reversal was increased with 22±13 mm Hg in FAP patients as compared with baseline (BP overshoot), whereas controls showed a significantly lower BP overshoot (8±6 mm Hg, P,0.001). In all states, total spectral power and the power of the low and high frequency components were all significantly lower than those of the controls (P,0.01). In a linear regression analysis adjusted for age, we found a significant inverse relation between BP overshoot and HRV (total spectral power, power of the low-frequency and ...
http://umu.diva-portal.org/smash/record.jsf?pid=diva2:385197
Impact of antibodies against amyloidogenic transthyretin (ATTR) on phenotypes of patients with familial amyloidotic...Impact of antibodies against amyloidogenic transthyretin (ATTR) on phenotypes of patients with familial amyloidotic...
BACKGROUND: This study investigated whether a relationship exists between the presence of de novo antibodies and the clinical manifestations of familial amyloidotic polyneuropathy (FAP). METHODS: Serum samples were collected from 25 Japanese and 6 Swedish FAP amyloidogenic transthyretin (ATTR) Valine30Methionine (V30M) patients, 4 asymptomatic Japanese ATTR V30M gene carriers, and 24 Japanese healthy volunteers. Study methods included enzyme-linked immunosorbent assay (ELISA) and mass spectrometry. RESULTS: Three Japanese and 5 Swedish patients had significantly higher levels of antibodies against ATTR than did healthy volunteers and asymptomatic gene carriers (P,0.05). All 8 patients with higher antibody levels were late-onset cases. The ratio of wild-type TTR to ATTR V30M in serum from the high-antibody group was higher than that of the low-antibody group. ELISA results revealed two epitopes at positions 24-35 and 105-115 of ATTR V30M. We found a significant positive correlation between levels ...
http://umu.diva-portal.org/smash/record.jsf?pid=diva2:612973
Regenerative Biology and Medicine | Leaders in Pharmaceutical Business Intelligence (LPBI) GroupRegenerative Biology and Medicine | Leaders in Pharmaceutical Business Intelligence (LPBI) Group
Familial transthyretin amyloid polyneuropathy. Curator: Larry H. Bernstein, MD, FCAP. LPBI. First-Ever Evidence that Patisiran Reduces Pathogenic, Misfolded TTR Monomers and Oligomers in FAP Patients. We reported data from our ongoing Phase 2 open-label extension (OLE) study of patisiran, an investigational RNAi therapeutic targeting transthyretin (TTR) for the treatment of TTR-mediated amyloidosis (ATTR amyloidosis) patients with familial amyloidotic polyneuropathy (FAP). Alnylam scientists and collaborators from The Scripps Research Institute and Misfolding Diagnostics, Inc. were able to measure the effects of patisiran on pathogenic, misfolded TTR monomers and oligomers in FAP patients. Results showed a rapid and sustained reduction in serum non-native conformations of TTR (NNTTR) of approximately 90%. Since NNTTR is pathogenic in ATTR amyloidosis and the level of NNTTR reduction correlated with total TTR knockdown, these results provide direct mechanistic evidence supporting the therapeutic ...
https://pharmaceuticalintelligence.com/category/regenerative-biology-and-medicine/
Pfizer Receives FDA Fast Track Designation for Tafamidis for Transthyretin CardiomyopathyPfizer Receives FDA Fast Track Designation for Tafamidis for Transthyretin Cardiomyopathy
Vyndaqel (tafamidis) is a new drug in development for the treatment of mild transthyretin familial amyloid polyneuropathy (TTR-FAP) and transthyretin cardiomyopathy (TTR-CM). Vyndaqel information includes news, clinical trial results and side effects.
https://www.drugs.com/nda/vyndaqel_170606.html
Tissue Biopsy - FAP News TodayTissue Biopsy - FAP News Today
Learn more about tissue biopsy, a minor surgical procedure used to find amyloid deposits and help diagnose familial amyloid polyneuropathy (FAP).
https://fapnewstoday.com/tissue-biopsy/
The most pathogenic transthyretin variant, L55P, forms amyloid fibrils under acidic conditions and protofilaments under...The most pathogenic transthyretin variant, L55P, forms amyloid fibrils under acidic conditions and protofilaments under...
The L55P transthyretin (TTR) familial amyloid polyneuropathy-associated variant is distinct from the other TTR variants studied to date and the wild-type protein in that the L55P tetramer can dissociate to the monomeric amyloidogenic intermediate and form fibril precursors under physiological conditions (pH 7.0, 37 degrees C). The activation barrier associated with L55P-TTR tetramer dissociation is lower than the barrier for wild-type transthyretin dissociation, which does not form fibrils under physiological conditions. The L55P-TTR tetramer is also very sensitive to acidic conditions, readily dissociating to form the monomeric amyloidogenic intermediate between pH 5.5-5.0 where the wild-type TTR adopts a nonamyloidogenic tetrameric structure. The formation of the L55P monomeric amyloidogenic intermediate involves subtle tertiary structural changes within the beta-sheet rich subunit as discerned from Trp fluorescence, circular dichroism analysis, and ANS binding studies. The assembly of the ...
https://vivo.scripps.edu/display/endnote319574
Liver Transplantation in HIV and HCV Coinfected PatientsLiver Transplantation in HIV and HCV Coinfected Patients
RESULTS. 3 patients received a domino graft (from a donor transplanted for familial amyloidotic polyneuropathy); 2 a living related donor graft and 2 a cdaver graft. 5 of the 7 are alive, and as the presenter said 4 are alive and well, but post transplant experience can have complications which are described below. The average followup time for these patients is 12.8 months (4-30 months). The longest a patient is alive who is doing well is 30 months. In general transplant experience is that patients with hepatitis B have better outcomes than patients with hepatitis C. 3 patients are doing relatively well. The study presenter said 4 of the 7 patients have shown dramatic improvement. 1 patient is in good condition at month 30 and is HCV negative. a second patient has F1 fibrosis at month 12 of followup with low or undetectable HIV RNA and in good condition. A third patient is in good condition at month 18 of followup. Three patients are not doing well. Another patient is alive with F3 fibrosis ...
http://www.natap.org/2002/AASLD/day4.htm
Amyloid Polyneuropathy, Familial - Medical Dictionary online-medical-dictionary.orgAmyloid Polyneuropathy, Familial - Medical Dictionary online-medical-dictionary.org
Inherited disorders of the Peripheral Nervous System associated with the deposition of Amyloid in nerve Tissue. The different clinical types based on symptoms correspond to the presence of a variety of Mutations in several different Proteins including Transthyretin (Prealbumin); Apolipoprotein A-I; and Gelsolin ...
http://www.online-medical-dictionary.org/definitions-a/amyloid-polyneuropathy-familial.html
KAKEN - Research Projects | Development of drugs targeting secretory inhibition of transthyretin for familial amyloidotic...KAKEN - Research Projects | Development of drugs targeting secretory inhibition of transthyretin for familial amyloidotic...
Principal Investigator：SATO Takashi, Project Period (FY)：2012-04-01 - 2014-03-31, Research Category：Grant-in-Aid for Young Scientists (B), Research Field：Biological pharmacy
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-24790079/
Thermodynamic stability and denaturation kinetics of a benign natural transthyretin mutant identified in a Danish kindredThermodynamic stability and denaturation kinetics of a benign natural transthyretin mutant identified in a Danish kindred
The disease phenotype of transthyretin (TTR) is dramatically influenced by single point mutations in the TTR gene. Herein, we report on a novel mutation D99N (Asp99Asn) in TTR found in a Danish kindred. None of the family members carrying this mutation have so far shown any clinical signs of amyloidosis. One carrier found compound heterozygous for TTR D99N and L111M (Leu111Met) associated with cardiac amyloid is asymptomatic (42 years). Disease severity can often be linked to both the kinetics of fibril formation and the degree of destabilisation of the native state. In this study, we show that the thermodynamic stability and rate of tetramer dissociation of the variant TTR D99N is unchanged or slightly more stable than wild type (WT) TTR. Furthermore, the in vitro fibrillation kinetics of the variant reveals an unchanged or slightly suppressed tendency to form fibrils compared to WT. Thus, the in vitro experiments support the lack of clinical symptoms observed so far for the TTR D99N carriers. ...
http://liu.diva-portal.org/smash/record.jsf?pid=diva2%3A419706&c=27&searchType=SIMPLE&language=en&query=&af=%5B%5D&aq=%5B%5B%7B%22personId%22%3A%22perha81+OR+0000-0001-5827-3587%22%7D%5D%5D&aq2=%5B%5B%5D%5D&aqe=%5B%5D&noOfRows=50&sortOrder=author_sort_asc&sortOrder2=title_sort_asc&onlyFullText=false&sf=all
CARDIAC FAILURE DUE TO PRIMARY AMYLOIDOSIS | HeartCARDIAC FAILURE DUE TO PRIMARY AMYLOIDOSIS | Heart
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Centers RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.. ...
http://heart.bmj.com/content/18/3/422
Polyneuropathy - Special Clinic | Schön KlinikPolyneuropathy - Special Clinic | Schön Klinik
Find the most suitable special clinic or hospital for treating polyneuropathy. We have listed for you the specialised clinics and hospitals for polyneuropathy.
http://www.schoen-kliniken.com/ptp/medizin/nerven/schmerzen/polyneuropathie/news/
Rat TTR(Transthyretin) ELISA Kit - UNICO Microscopes and SpectrophotometersRat TTR(Transthyretin) ELISA Kit - UNICO Microscopes and Spectrophotometers
Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Rat Transthyretin (TTR) in samples from Serum, plasma, tissue homogenates, cell lysates, cell culture supernates and other biological fluids. with no significant corss-reactivity with analogues from other species ...
https://unicoupi.com/rat-ttrtransthyretin-elisa-kit/
Plus itPlus it
The efficacy of the IgG1κ c11-1F4 mAb to accelerate amyloidolysis in our in vivo amyloidoma model was compared with that of the murine parent. Because the 22C1-, 22C5-, and 22D2-derived c11-1F4 preparations exhibited equivalent reactivity with amyloid and there were limited quantities of each, the three were combined and used in our in vivo experiments. Given the relatively large amount of amyloid extract required to produce a readily palpable amyloidoma (dry weight, 100 mg) and the scarcity of autopsy-derived samples, the numbers of animals used in each study was necessarily restricted to one pair of mice. In the first experiment, four sets were injected s.c. with a 1-ml volume of solution containing 100 mg of a human ALκ extract (Ref. 19 ; patient HIG) that was comprised of fragments (∼16 and 18 kDa) representing the major portion of the amyloidogenic precursor κ1 light chain (BJP, HIG), as demonstrated by SDS-PAGE, Western blot, and chemical analyses. By dot blot, the c11-1F4 mAb, as ...
http://clincancerres.aacrjournals.org/content/9/10/3831s
Toxic polyneuropathy -- Vincristine Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.comToxic polyneuropathy -- Vincristine Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com
Toxic polyneuropathy - Vincristine information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
http://www.rightdiagnosis.com/t/toxic_polyneuropathy_vincristine/intro.htm
Polyneuropathy from small amounts of vitamins, b6 b1 b3 ...: loss of feeling in feet, pain, tingling | Page 3 | Phoenix Rising...Polyneuropathy from small amounts of vitamins, b6 b1 b3 ...: loss of feeling in feet, pain, tingling | Page 3 | Phoenix Rising...
@Gondwanaland Same question to you: how does your polyneuropathy do since? same? improved? Any treartment ideas? is yours axonal or myelin-related?...
http://forums.phoenixrising.me/index.php?threads/polyneuropathy-from-small-amounts-of-vitamins-b6-b1-b3-loss-of-feeling-in-feet-pain-tingling.45736/page-3
Familial amyloid neuropathyFamilial amyloid neuropathy
The familial amyloid neuropathies (or familial amyloidotic neuropathies, neuropathic heredofamilial amyloidosis, familial ... "Amyloid". "Amyloid". Akiya S, Nishio Y, Ibi K, et al. (July 1996). "Lattice corneal dystrophy type II associated with familial ... The aggregation of one precursor protein leads to peripheral neuropathy and/or autonomic nervous system dysfunction. These ... "ATTR Famililial Amyloidosis". BU - Amyloid Treatment & Research Program. Archived from the original on 2008-07-06. Said, G; ...
https://en.wikipedia.org/wiki/Familial_amyloid_neuropathy
Familial amyloid polyneuropathyFamilial amyloid polyneuropathy
Shin, Susan C.; Robinson-Papp, Jessica (November 2012). "Amyloid Neuropathies". The Mount Sinai Journal of Medicine, New York. ... Occasionally, biopsy of skin, nerve, or muscle may be performed, which can show signs of denervation and amyloid deposition ... The tetramer has to dissociate into misfolded monomers to aggregate into a variety of structures including amyloid fibrils. ... Scott LJ (August 2014). "Tafamidis: a review of its use in familial amyloid polyneuropathy". Drugs. 74 (12): 1371-8. doi: ...
https://en.wikipedia.org/wiki/Familial_amyloid_polyneuropathy
Lactic acid bacteriaLactic acid bacteria
"Protective effect of Lactococcus laudensis and Pediococcus parvulus against neuropathy due to amyloid-beta in Caenorhabditis ...
https://en.wikipedia.org/wiki/Lactic_acid_bacteria
Electrochemical skin conductanceElectrochemical skin conductance
Amyloidosis such as familial amyloid neuropathy, AL amyloidosis, and AA amyloidosis [publication pending]. During the course of ... Neuropathic pain usually manifests in the setting of small fiber neuropathy. Small fiber neuropathy is common and may arise ... diabetic neuropathy and autonomic neuropathy. Sensorimotor polyneuropathy (DSPN) is the most common type of polyneuropathy in ... Cardiac autonomic neuropathy (CAN) describes a dysfunction of the ANS and its regulation of the cardiovascular system. CAN is ...
https://en.wikipedia.org/wiki/Electrochemical_skin_conductance
Neuropathy (disambiguation)Neuropathy (disambiguation)
Diabetic neuropathy, peripheral neuropathy due to diabetes mellitus Familial amyloid neuropathies, a rare group of autosomal ... Look up neuropathy in Wiktionary, the free dictionary. Neuropathy may refer to: Peripheral neuropathy, a condition affecting ... a peripheral neuropathy that affects the sensory and muscle nerves Neuropathy, ataxia, and retinitis pigmentosa (NARP), a ... chemical reactions Organophosphate-induced delayed neuropathy, a neuropathy caused by killing of neurons in the central nervous ...
https://en.wikipedia.org/wiki/Neuropathy_(disambiguation)
List of MeSH codes (C10)List of MeSH codes (C10)
... amyloid neuropathies MeSH C10.668.829.050.050 - amyloid neuropathies, familial MeSH C10.668.829.100 - brachial plexus ... peroneal neuropathies MeSH C10.668.829.500.650 - radial neuropathy MeSH C10.668.829.500.675 - sciatic neuropathy MeSH C10.668. ... amyloid neuropathies, familial MeSH C10.574.500.300 - canavan disease MeSH C10.574.500.362 - cockayne syndrome MeSH C10.574. ... femoral neuropathy MeSH C10.668.829.500.500 - median neuropathy MeSH C10.668.829.500.500.200 - carpal tunnel syndrome MeSH ...
https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C10)
List of MeSH codes (C18)List of MeSH codes (C18)
... amyloid neuropathies MeSH C18.452.090.050.050 - amyloid neuropathies, familial MeSH C18.452.090.075 - amyloidosis, familial ... amyloid neuropathies, familial MeSH C18.452.648.100.160 - cerebral amyloid angiopathy, familial MeSH C18.452.648.151 - brain ... amyloid neuropathies, familial MeSH C18.452.090.075.160 - cerebral amyloid angiopathy, familial MeSH C18.452.090.100 - cerebral ... amyloid angiopathy MeSH C18.452.090.100.160 - cerebral amyloid angiopathy, familial MeSH C18.452.100.100 - brain diseases, ...
https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C18)
List of MeSH codes (C16)List of MeSH codes (C16)
... amyloid neuropathies, familial MeSH C16.320.565.100.160 - cerebral amyloid angiopathy, familial MeSH C16.320.565.150 - brain ... amyloid neuropathies, familial MeSH C16.320.400.150 - Canavan disease MeSH C16.320.400.200 - Cockayne syndrome MeSH C16.320. ... cerebral amyloid angiopathy, familial MeSH C16.320.565.150.175 - citrullinemia MeSH C16.320.565.150.320 - galactosemias MeSH ... hereditary motor and sensory neuropathies MeSH C16.131.666.300.200 - Charcot-Marie-Tooth disease MeSH C16.131.666.300.780 - ...
https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C16)
Lattice corneal dystrophyLattice corneal dystrophy
March 2007). "Severe ataxia with neuropathy in hereditary gelsolin amyloidosis: a case report". Amyloid. 14 (1): 89-95. doi: ... Amyloid deposits are found throughout the corneal stroma. Linear and other shaped opaque areas accumulate particularly within ... In systemic cases, kidney failure, heart failure and neuropathy such as facial nerve palsy, laxity of the skin may be noted. ... Lattice dystrophy gets its name from an accumulation of amyloid deposits, or abnormal protein fibers, throughout the middle and ...
https://en.wikipedia.org/wiki/Lattice_corneal_dystrophy
Familial Amyloidosis, Finnish TypeFamilial Amyloidosis, Finnish Type
Many names exist in the scientific literature in reference to this disease including: Familial amyloid neuropathy type IV ... is an amyloid condition with a number of associated cutaneous and neurological presentations deriving from the aberrant ... progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome". ...
https://en.wikipedia.org/wiki/Familial_Amyloidosis,_Finnish_Type
TransthyretinTransthyretin
... and familial amyloid cardiomyopathy (FAC). TTR tetramer dissociation is known to be rate-limiting for amyloid fibril formation ... "A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral ... Deposition of TTR amyloid is generally observed extracellularly, although TTR deposits are also clearly observed within the ... TTR is also thought to have beneficial side effects, by binding to the infamous beta-amyloid protein, thereby preventing beta- ...
https://en.wikipedia.org/wiki/Transthyretin
AmyloidosisAmyloidosis
One third of amyloid disease is hereditary, in which case there is normally an early age of onset. Half of amyloid-related ... Sensory neuropathy develops in a symmetrical pattern and progresses in a distal to proximal manner. Autonomic neuropathy can ... Accumulation of amyloid proteins in the gastrointestinal system may be caused by a wide range of amyloid disorders and have ... As a result, amyloid deposits into the body's extracellular space. The process of forming amyloid fibrils is thought to have ...
https://en.wikipedia.org/wiki/Amyloidosis
Beta cellBeta cell
Amylin, also known as islet amyloid polypeptide (IAPP). The function of amylin is to slow the rate of glucose entering the ... C-peptide helps to prevent neuropathy and other vascular deterioration related symptoms of diabetes mellitus. A practitioner ...
https://en.wikipedia.org/wiki/Beta_cell
Mary Reilly (academic)Mary Reilly (academic)
Reilly has worked on hereditary sensory and autonomic neuropathies and carpal tunnel syndrome in inherited neuropathies. Reilly ... Reilly, Mary M.; King, Rosalind H. M. (1993). "Familial Amyloid Polyneuropathy". Brain Pathology. 3 (2): 165-176. doi:10.1111/j ... She studies peripheral neuropathy. She is the President of the Association of British Neurologists. Reilly studied medicine at ... Consortium (INC), Inherited Neuropathy; Züchner, Stephan; Reilly, Mary M.; Antonellis, Anthony; Yang, Xiang-Lei; Speziani, ...
https://en.wikipedia.org/wiki/Mary_Reilly_(academic)
Plasma cell dyscrasiasPlasma cell dyscrasias
Free κ or λ light chains can aggregate with each other to cause extracellular amyloid deposits and a disease termed amyloidosis ... peripheral neuropathy and a clonal plasma cell dyscrasia (increased bone marrow plasma cells in ~67% of cases; ≥1 plasmacytoma ... evidence of amyloid deposition (see Light chain deposition disease), and d) an accumulation of 0.5 or more grams of the ... peripheral neuropathy, cryoglobulinemia, or constitutional symptoms. There may be a modest increase in the incidence of IgM ...
https://en.wikipedia.org/wiki/Plasma_cell_dyscrasias
AngiopathyAngiopathy
Diabetic angiopathy Cerebral amyloid angiopathy "angiopathy" at Dorland's Medical Dictionary (All articles with unsourced ... Damage to nerve cells may cause peripheral neuropathy, and to kidney cells, diabetic kidney disease (Kimmelstiel-Wilson ...
https://en.wikipedia.org/wiki/Angiopathy
List of OMIM disorder codesList of OMIM disorder codes
IGHMBP2 Neuropathy, congenital hypomyelinating, 1; 605253; EGR2 Neuropathy, congenital hypomyelinating; 605253; MPZ Neuropathy ... VLDLR Cerebral amyloid angiopathy; 105150; CST3 Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants; ... HSPB1 Neuropathy, distal hereditary motor, type V; 600794; BSCL2 Neuropathy, distal hereditary motor, type V; 600794; GARS ... SPTLC1 Neuropathy, hereditary sensory and autonomic, type II; 201300; WNK1 Neuropathy, hereditary sensory and autonomic, type ...
https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes
SPTLC2SPTLC2
Mutations in SPTLC2 were identified in patients with hereditary sensory neuropathy type I. In response to IL-17A and TNF, ... Geekiyanage H, Chan C (October 2011). "MicroRNA-137/181c regulates serine palmitoyltransferase and in turn amyloid β, novel ... June 2013). "Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2". Neurology. 80 ( ... as a common cause for hereditary sensory neuropathy". Neuromuscular Disorders. 12 (7-8): 656-658. doi:10.1016/S0960-8966(02) ...
https://en.wikipedia.org/wiki/SPTLC2
Carpal tunnel syndromeCarpal tunnel syndrome
When the pressure builds up inside the tunnel, it damages the median nerve (median neuropathy). As the median neuropathy gets ... Prior carpal tunnel release is often noted in individuals who later present with transthyretin amyloid-associated ... As the neuropathy progresses, there may be first weakness, then to atrophy of the muscles of thenar eminence (the flexor ... measurable median neuropathy (IMNCT) whether or not people are seeking care. It accounts for about 90% of all nerve compression ...
https://en.wikipedia.org/wiki/Carpal_tunnel_syndrome
Monoclonal gammopathy of renal significanceMonoclonal gammopathy of renal significance
These AL light chains are misfolded leading to the disordered deposition of amyloid multimers and fibrils in the glomeruli and ... Extra-renal manifestations, such as heart failure, gastrointestinal symptoms, secondary neuropathy (carpal tunnel syndrome), ... Other types of amyloidosis related MGRS disorders include heavy chain amyloidosis (deposition of only heavy amyloid chains in ... AL amyloidosis is an immunoglobulin light chain associated amyloidosis that involves the deposition of misfolded amyloid light ...
https://en.wikipedia.org/wiki/Monoclonal_gammopathy_of_renal_significance
Cardiac amyloidosisCardiac amyloidosis
Amyloid, the aggregation, or clumping, of proteins, is resistant to degradation by the body. Amyloids are mostly fibrils, while ... For familial amyloidosis, ACE-inhibitors and beta-blockers can be prescribed if there is no autonomic neuropathy. Suppression ... Destruction of existing amyloid fibrils: There are multiple medications that show amyloid destroying properties, Doxycycline, ... Symptoms of cardiac amyloidosis are a combination of heart failure and amyloid deposition in various other organs. Amyloid ...
https://en.wikipedia.org/wiki/Cardiac_amyloidosis
Michael PolydefkisMichael Polydefkis
He was the lead author of a study in 2014 which found that patients with diabetic peripheral neuropathy have trouble on stairs ... In his lab, Polydefkis developed a protocol to test for amyloid using punch skin biopsies which yielded positive results. As a ... Polydefkis research focuses on treating hATTR amyloidosis and diabetic and HIV-associated peripheral neuropathy. Polydefkis was ... diabetes and that novel measures of regeneration can be used in peripheral neuropathy trials." During his tenure at Johns ...
https://en.wikipedia.org/wiki/Michael_Polydefkis
List of diseases (C)List of diseases (C)
... late infantile Cervical cancer Cervical hypertrichosis neuropathy Cervical hypertrichosis peripheral neuropathy Cervical ribs ... atrophy Cerebelloparenchymal disorder 3 Cerebellum agenesis hydrocephaly Cerebral amyloid angiopathy Cerebral amyloid ... monosomy 2q duplication 1p Chronic berylliosis Chronic bronchitis Chronic demyelinizing neuropathy with IgM monoclonal Chronic ... syndrome Corneal anesthesia deafness mental retardation Corneal cerebellar syndrome Corneal crystals myopathy neuropathy ...
https://en.wikipedia.org/wiki/List_of_diseases_(C)
MicroangiopathyMicroangiopathy
... diabetic neuropathy, especially peripheral neuropathy). Massive microangiopathy may cause microangiopathic hemolytic anemia ( ... Age-related and hypertension-related small vessel diseases and cerebral amyloid angiopathy are the most common forms. Coronary ...
https://en.wikipedia.org/wiki/Microangiopathy
Ardalan-Shoja-Kiuru syndromeArdalan-Shoja-Kiuru syndrome
Amyloid. 5(1):55-66. (Articles with short description, Short description matches Wikidata, Syndromes affecting the retina, ... In addition to the classic manifestations of Finnish type Familial Amyloidosis, cutis laxa, progressive peripheral neuropathy ...
https://en.wikipedia.org/wiki/Ardalan–Shoja–Kiuru_syndrome
Nutritional neuroscienceNutritional neuroscience
Combined myelopathy and neuropathy are prevalent within a large percentage of cases. Cognitive changes may range from loss of ... Copper and zinc are known to bind to amyloid beta proteins in Alzheimer's disease. This bound form is thought to mediate the ... Peripheral neuropathy can become very disabling leaving some patients dependent on wheel chairs or walking canes for mobility ... Pineles S. L.; Wilson C. A.; Balcer L. J.; Slater R.; Galetta S. L. (2010). "Combined Optic Neuropathy and Myelopathy Secondary ...
https://en.wikipedia.org/wiki/Nutritional_neuroscience
GintoninGintonin
Amyloid-β Protein, and Mouse Model of Alzheimer's Disease". Molecules and Cells. 38 (9): 796-805. doi:10.14348/molcells. ... attenuates Alzheimer's disease-related neuropathies: involvement of non-amyloidogenic processing". Journal of Alzheimer's ... Amyloid-β Protein, and Mouse Model of Alzheimer's Disease". Molecules and Cells. 38 (9): 796-805. doi:10.14348/molcells. ... attenuates Alzheimer's disease-related neuropathies: involvement of non-amyloidogenic processing". Journal of Alzheimer's ...
https://en.wikipedia.org/wiki/Gintonin
HADHBHADHB
Frackowiak J, Mazur-Kolecka B, Kaczmarski W, Dickson D (2001). "Deposition of Alzheimer's vascular amyloid-beta is associated ... 1998). "Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel ... and sensorimotor axonal neuropathy. In some cases, symptoms of the deficiency can present as dilated cardiomyopathy, congestive ...
https://en.wikipedia.org/wiki/HADHB
RAB11BRAB11B
... a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling". Brain. 133 (Pt ... "Estrogen lowers Alzheimer beta-amyloid generation by stimulating trans-Golgi network vesicle biogenesis". The Journal of ... and Charcot-Marie-Tooth Neuropathy Type 4C (CMT4C). Intracellular bacteria Chlamydia pneumoniae and Chlamydia trachomatis that ...
https://en.wikipedia.org/wiki/RAB11B
AcetylcholinesteraseAcetylcholinesterase
Pakaski M, Kasa P (2003). "Role of acetylcholinesterase inhibitors in the metabolism of amyloid precursor protein". Current ... "Readthrough acetylcholinesterase in inflammation-associated neuropathies". Life Sci. 80 (24-25): 2369-74. doi:10.1016/j.lfs. ...
https://en.wikipedia.org/wiki/Acetylcholinesterase
SNX8SNX8
The amyloid precursor protein (APP) is consecutively transported from the ER after its synthesis to the plasma membrane via the ... SNPs (single nucleotide polymorphisms) in the SNX8 gene are related to neuropathy due to its role in endosomal content sorting ... Insoluble accumulations of β-amyloid peptide in brain regions related to memory and cognition are a defining characteristic of ... "Beta-amyloid toxicity modifier genes and the risk of Alzheimer's disease". American Journal of Neurodegenerative Disease. 1 (2 ...
https://en.wikipedia.org/wiki/SNX8
List of skin conditionsList of skin conditions
... pheochromocytoma and amyloid-producing medullary thyroid carcinoma, PTC syndrome, Sipple syndrome) Multiple endocrine neoplasia ... Cerebral dysgenesis-neuropathy-ichthyosis-keratoderma syndrome Childhood tumor syndrome Chondrodysplasia punctata Cicatricial ... Familial amyloid polyneuropathy Familial apoprotein CII deficiency Familial combined hyperlipidemia (multiple-type ... Generalized trichoepithelioma Giant axonal neuropathy with curly hair Gingival fibromatosis with hypertrichosis Haber syndrome ...
https://en.wikipedia.org/wiki/List_of_skin_conditions
Epigenetics of neurodegenerative diseasesEpigenetics of neurodegenerative diseases
... and by amyloid-beta senile plaques amyloid-beta senile plaques. Several genetic factors have been identified as contributing to ... The main group of sensory neuron diseases are hereditary sensory and autonomic neuropathies (HSAN) such as HSAN I, HSAN II, and ... BACE1 is an enzymatic protein that cleaves the Amyloid Precursor Protein into the insoluble amyloid beta form, which then ... Chen KL, Wang SS, Yang YY, Yuan RY, Chen RM, Hu CJ (January 2009). "The epigenetic effects of amyloid-beta(1-40) on global DNA ...
https://en.wikipedia.org/wiki/Epigenetics_of_neurodegenerative_diseases
MFN2MFN2
February 2006). "Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2". Annals of Neurology. 59 (2): 276- ... Manczak M, Calkins MJ, Reddy PH (July 2011). "Impaired mitochondrial dynamics and abnormal interaction of amyloid beta with ... The impairment of the former is rarer while neuropathy forms are more frequent and severe, involving both legs and arms, with ... GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 2 Overview of all the structural information available in ...
https://en.wikipedia.org/wiki/MFN2
SarcoidosisSarcoidosis
Heij L, Dahan A, Hoitsma E (2012). "Sarcoidosis and pain caused by small-fiber neuropathy". Pain Research and Treatment. 2012: ... Serum markers of sarcoidosis, include: serum amyloid A, soluble interleukin-2 receptor, lysozyme, angiotensin converting enzyme ... Tavee J, Culver D (June 2011). "Sarcoidosis and small-fiber neuropathy". Current Pain and Headache Reports. 15 (3): 201-6. doi: ... and peripheral neuropathy. Myelopathy, that is spinal cord involvement, occurs in about 16-43% of neurosarcoidosis cases and is ...
https://en.wikipedia.org/wiki/Sarcoidosis
HemodialysisHemodialysis
Longterm complications of hemodialysis include hemodialysis-associated amyloidosis, neuropathy and various forms of heart ... and deposits of this amyloid in joints and other tissues. Beta-2-M amyloidosis can cause very serious complications, including ...
https://en.wikipedia.org/wiki/Hemodialysis
Cathepsin SCathepsin S
October 1995). "Lysosomal processing of amyloid precursor protein to A beta peptides: a distinct role for cathepsin S". The ... cysteine protease cathepsin S reveals immunomodulatory therapeutic strategy for oxaliplatin-induced peripheral neuropathy". ... A role in the degradation of myelin basic protein and amyloid beta peptide". Molecular Medicine. 5 (5): 334-343. doi:10.1007/ ...
https://en.wikipedia.org/wiki/Cathepsin_S
HK1HK1
... also known as Russe-type hereditary motor and sensory neuropathy (HMSNR). Due to the crucial role of HK1 in glycolysis, ... from gene mutations to interference by factors such as beta-amyloid peptide and insulin. A heterozygous missense mutation in ...
https://en.wikipedia.org/wiki/HK1
SOD1SOD1
... although they do exhibit a strong age-dependent distal motor neuropathy). ALS is a neurodegenerative disease characterized by ... "Calcium binding to gatekeeper residues flanking aggregation-prone segments underlies non-fibrillar amyloid traits in superoxide ...
https://en.wikipedia.org/wiki/SOD1
PalmitoylethanolamidePalmitoylethanolamide
Its activity as an inhibitor of inflammation counteracts reactive astrogliosis induced by beta-amyloid peptide, in a model ... "Use of palmitoylethanolamide in the entrapment neuropathy of the median in the wrist". Minerva Medica. 102 (2): 141-7. PMID ... December 2011). "Palmitoylethanolamide counteracts reactive astrogliosis induced by β-amyloid peptide". Journal of Cellular and ... 20 patients with thalidomide and bortezomib induced neuropathy were reported to have improved nerve functions and less pain ...
https://en.wikipedia.org/wiki/Palmitoylethanolamide
Polypeptide antibioticPolypeptide antibiotic
Use of polymyxins may cause nephrotoxicity and neuropathy; damage to the kidney via systemic use of drugs or toxins, and nerve ... "Reduction of Bleomycin-Induced Pulmonary Fibrosis by Serum Amyloid P". Journal of Immunology. 179 (6): 4035-44. doi:10.4049/ ...
https://en.wikipedia.org/wiki/Polypeptide_antibiotic
Neurofilament light polypeptideNeurofilament light polypeptide
Bird TD (26 March 2015). "Charcot-Marie-Tooth Neuropathy Type 1". In Pagon RA, Bird TD, Dolan CR, et al. (eds.). GeneReviews. ... Zetterberg H, Schott JM (February 2019). "Biomarkers for Alzheimer's disease beyond amyloid and tau". Nature Medicine. 25 (2): ... In GeneReviews De Jonghe P, Jordanova AK (2011-10-27). "Charcot-Marie-Tooth Neuropathy Type 2E/1F - RETIRED CHAPTER, FOR ... Bird TD (30 January 2014). "Charcot-Marie-Tooth Neuropathy Type 2 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". Charcot- ...
https://en.wikipedia.org/wiki/Neurofilament_light_polypeptide
Satellite Symposium: Portuguese TTR Amyloid Neuropathy - The 10th World Congress on CONTROVERSIES IN NEUROLOGY (CONy)Satellite Symposium: Portuguese TTR Amyloid Neuropathy - The 10th World Congress on CONTROVERSIES IN NEUROLOGY (CONy)
Please see below the CONy Scientific Program. Please click on the appropriate section to view the relevant program. Please note that the program and timing is subject to change. To view the program timetable / overview, please click here ...
https://www.comtecmed.com/cony/2016/PAN.aspx
Metabolic Neuropathy Clinical Presentation: History, Physical, CausesMetabolic Neuropathy Clinical Presentation: History, Physical, Causes
The term metabolic neuropathy includes a wide spectrum of peripheral nerve disorders associated with systemic diseases of ... Amyloid neuropathy (nonfamilial). Progressive involvement of small-diameter fibers with loss of pain and temperature sensation ... Diabetic neuropathy and nutritional neuropathy. Diabetic neuropathy and nutritional neuropathy are discussed in detail in the ... Thyroid neuropathy. Entrapment neuropathy of the median nerve is the most common neuropathy associated with hypothyroidism. ...
https://www.medscape.com/answers/1171051-175168/what-are-risk-factors-for-metabolic-neuropathy
Research Profile Listing | Yale School of MedicineResearch Profile Listing | Yale School of Medicine
Amyloid Neuropathies. *. Sasha Zivkovic, MD, PhD. Research Interests. *Hereditary Sensory and Autonomic Neuropathies ...
https://medicine.yale.edu/research-profiles/?orgId=113592&meshId=16625
Transthyretin amyloidosis: MedlinePlus GeneticsTransthyretin amyloidosis: MedlinePlus Genetics
... amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid ( ... The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve. 2007 Oct;36(4):411-23. doi: 10.1002/mus.20821 ... Protein deposits in these nerves result in a loss of sensation in the extremities (peripheral neuropathy). The autonomic ... Plante-Bordeneuve V, Said G. Transthyretin related familial amyloid polyneuropathy. Curr Opin Neurol. 2000 Oct;13(5):569-73. ...
https://medlineplus.gov/genetics/condition/transthyretin-amyloidosis/
Encyclopedia of the Neurological Sciences - Elsevier Science & Technology - Literati by Credo
Neuropathies, Amyloid. *Neuropathies, Autonomic. *Neuropathies, Diabetic. *Neuropathies, Entrapment. *Neuropathies, Iatrogenic ... Acute Motor and Motor-Sensory Neuropathy (Axonal Subtypes of Guillain-Barré Syndrome), Immunology of ...
https://corp.credoreference.com/component/booktracker/edition/9863.html
ISMRM 23rd Annual Meeting & ExhibitionISMRM 23rd Annual Meeting & Exhibition
We evaluated 6 patients with various grades of amyloid-related neuropathy of the lower limbs. Amyloid neuropathy MR micro- ... MR micro-neurography in the investigation of amyloid-related neuropathy - permission withheld. Paolo F Felisaz1, Eric Y Chang2 ... The aim of this study is to evaluate peripheral nerves in amyloid-related neuropathy using high-resolution MRI. A clinical 3T ... 4Amyloid Research and Treatment Center, Scientific Institute Policlinico San Matteo, Pavia, Italy, 5Radiology Department, IRCCS ...
https://www.ismrm.org/15/program_files/WedEPS03.htm
Neurology - Research output - Mayo Clinic
Amyloid-like IgM deposition neuropathy: A distinct clinico-pathologic and proteomic profiled disorder. Figueroa, J. J., Bosch, ... Amyloid-first and neurodegeneration-first profiles characterize incident amyloid PET positivity. Jack, C. R., Wiste, H. J., ... Amyloid light-chain deposition in a schwannoma. Jack, M. M., Smith, B. W., Klein, C. J., Kourelis, T., Folpe, A. L., Spinner, R ... Amyloid- and tau-PET imaging in a familial prion kindred. Jones, D. T., Townley, R. A., Graff-Radford, J., Botha, H., Knopman, ...
https://mayoclinic.pure.elsevier.com/en/organisations/neurology-2/publications/?ordering=type&descending=false&page=8
Browse by UCL Departments and Centres - UCL DiscoveryBrowse by UCL Departments and Centres - UCL Discovery
Pharmacological treatment for familial amyloid neuropathy. Cochrane Database of Systematic Reviews , 2016 (10) , Article ... Single-Molecule Imaging of Individual Amyloid Protein Aggregates in Human Biofluids. ACS Chemical Neuroscience , 7 (3) pp. 399- ... Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis. ... SLC25A46 Mutations Underlie Progressive Myoclonic Ataxia With Optic Atrophy and Neuropathy. Movement Disorders , 31 (8) pp. ...
https://discovery.ucl.ac.uk/view/UCL/F84/2016.html
Multidisciplinary Approaches for Transthyretin Amyloidosis | SpringerLinkMultidisciplinary Approaches for Transthyretin Amyloidosis | SpringerLink
Progression of transthyretin amyloid neuropathy after liver transplantation. Neurology. 2010;75(4):324-7. ... 7D-F) [32, 51, 52]. Hence, these characteristics of amyloid fibrils may determine the affinity of 11C-PiB for amyloid deposits ... Skin nerve pathology: biomarkers of premanifest and manifest amyloid neuropathy. Ann Neurol. 2019;85(4):560-73. ... Amyloid fibril formation and protein misassembly: a structural quest for insights into amyloid and prion diseases. Structure. ...
https://link.springer.com/article/10.1007/s40119-021-00222-w
Publications | www.ibmc.up.pt
A study in a transgenic mouse model of ATTRV30M amyloid neuropathy. PLoS ONE, 12(4).*Google Scholar ... Alemi, M., Gaiteiro, C., Ribeiro, C. A., Santos, L. M., et al. (2016). Transthyretin participates in beta-amyloid transport ... Panayiotou, E., Fella, E., Papacharalambous, R., Malas, S., et al. (2017). C1q ablation exacerbates amyloid deposition: ... Force spectroscopy reveals the presence of structurally modified dimers in transthyretin amyloid annular oligomers. Journal of ...
https://www.ibmc.up.pt/research/publications?page=4&%3Bs=author&%3Bf%5Bag%5D=C&f%5Bauthor%5D=4492&s=year&o=asc
Metabolic Neuropathy Clinical Presentation: History, Physical, Causes
The term metabolic neuropathy includes a wide spectrum of peripheral nerve disorders associated with systemic diseases of ... Amyloid neuropathy (nonfamilial). Progressive involvement of small-diameter fibers with loss of pain and temperature sensation ... Diabetic neuropathy and nutritional neuropathy. Diabetic neuropathy and nutritional neuropathy are discussed in detail in the ... Thyroid neuropathy. Entrapment neuropathy of the median nerve is the most common neuropathy associated with hypothyroidism. ...
https://www.staging.medscape.com/answers/1171051-175160/which-physical-findings-are-characteristic-of-thyroid-neuropathy
IgM monoclonal gammopathies of clinical significance: diagnosis and management | Haematologica IgM monoclonal gammopathies of clinical significance: diagnosis and management | Haematologica
... non-amyloid-related neuropathy and attainment of at least partial haematologic response.49,50 ... Anti-MAG neuropathy is the most common and best-defined IgM-related neuropathy. Patients typically present with chronic-onset, ... IgM-related neuropathies. IgM-related peripheral neuropathies encompass an array of entities including immune-mediated neuronal ... Patients with grade 3 sensory and/or grade 1 painful neuropathy were excluded and treatment-related neuropathy is a particular ...
https://haematologica.org/article/view/haematol.2022.280953
Seizures & Syncope | Clinical Neurology, 10e | AccessNeurology | McGraw Hill MedicalSeizures & Syncope | Clinical Neurology, 10e | AccessNeurology | McGraw Hill Medical
Porphyria is a disorder of heme biosynthesis that produces both neuropathy (see Chapter 9, Motor Disorders) and seizures. The ... The latter may be due to drugs, autonomic neuropathy, or CNS disorders affecting sympathetic pathways in the hypothalamus, ... autonomic neuropathy may coexist. The headache can precede or follow the syncopal spell. Migraine without syncope occurs in the ... Amyloid neuropathy. Diabetic neuropathy. Guillain-Barré syndrome. Porphyric neuropathy. Other neurologic disorders ...
https://neurology.mhmedical.com/content.aspx?bookid=2274§ionid=176235020
HuGE Navigator|Genopedia|PHGKBHuGE Navigator|Genopedia|PHGKB
DeCSDeCS
AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms ... Compression Neuropathy, Carpal Tunnel Entrapment Neuropathy, Carpal Tunnel Median Neuropathy, Carpal Tunnel Syndrome, Carpal ... Compression Neuropathy, Carpal Tunnel. Entrapment Neuropathy, Carpal Tunnel. Median Neuropathy, Carpal Tunnel. Syndrome, Carpal ... AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms ...
https://decs.bvsalud.org/en/ths/resource/?id=2392
IMSEAR at SEARO: Search
BIGG
Amyloid Neuropathies, Familial 1 Institution. * National Institute for Health and Care Excellence 1 ...
https://sites.bvsalud.org/bigg/en/biblio/?q=mh:Amyloid+Neuropathies,+Familial/drug+therapy
Doctors Making Progress In Treating Amyloidosis - CBS Pittsburgh | oneAMYLOIDOSISvoiceDoctors Making Progress In Treating Amyloidosis - CBS Pittsburgh | oneAMYLOIDOSISvoice
Neuropathy in Amyloid: Symptoms Management by Dr. Chafic Karam - ASG Webinar - 4/12. ... talks about Neuropathy In Amyloid: Symptoms Management. Source: Amyloidosis Support Group. https://www.youtube.com/watch?v= ...
https://www.oneamyloidosisvoice.com/video-visual/doctors-making-progress-amyloidosis-treatment/
Transthyretin-Related Amyloidosis: Practice Essentials, Background, PathophysiologyTransthyretin-Related Amyloidosis: Practice Essentials, Background, Pathophysiology
All types of amyloid contain a major fibril protein that defines the type of amyloid, plus minor components. ... All types of amyloid contain a major fibril protein that defines the type of amyloid, plus minor components. Over 20 different ... Affected patients usually do not have peripheral neuropathy. [11] * TTR T60A: This variant causes late-onset systemic ... which can subsequently self-assemble into amyloid fibrils. However, the wild-type (wt) TTR form can also result in amyloid ...
https://emedicine.medscape.com/article/335301-overview
Code System Concept
Amyloid cranial neuropathy with lattice corneal dystrophy Active Synonym false false 477686017 Familial amyloid polyneuropathy ... Familial amyloid neuropathy, Finnish type Active Synonym false false 477684019 Finnish type amyloidosis Active Synonym false ...
https://phinvads.cdc.gov/vads/ViewCodeSystemConcept.action?oid=2.16.840.1.113883.6.96&code=361199007
Metabolic Diseases, Disorders, and Health Challenges < Nutritional and Metabolic Diseases << Diseases <<< Sick Care Systems ...Metabolic Diseases, Disorders, and Health Challenges < Nutritional and Metabolic Diseases << Diseases <<< Sick Care Systems ...
Amyloid Neuropathies *Familial Amyloid Neuropathies *Familial Amyloidosis *Familial Amyloid Neuropathies *Familial Cerebral ... Familial Amyloid Neuropathies *Familial Cerebral Amyloid Angiopathy *Inborn Metabolic Brain Diseases *Familial Cerebral Amyloid ... Cerebral Amyloid Angiopathy *Familial Cerebral Amyloid Angiopathy *TDP-43 proteinopathies *Amyotrophic Lateral Sclerosis * ... Familial Cerebral Amyloid Angiopathy *Galactosemias *Hartnup Disease *Hepatolenticular Degeneration *Hereditary Central Nervous ...
https://wellnessadvocate.com/?uid=11114
The Cyprus Institute of Neurology and Genetics - Eleni Zamba PapanicolaouThe Cyprus Institute of Neurology and Genetics - Eleni Zamba Papanicolaou
7. Research Promotion Foundation (CYPRUS), Pancyprian study of amyloid neuropathy, Co-investigator, Support period: December ... Autosomal recessive distal hereditary motor neuropathies. ACTA Myologica 2001; Vol. XX: 53-56.. 9. Zamba-Papanicolaou E, ...
https://www.cing.ac.cy/easyconsole.cfm/id/979
Peripheral neuropathy: pattern recognition for the pragmatist | Practical NeurologyPeripheral neuropathy: pattern recognition for the pragmatist | Practical Neurology
Diagnosis of amyloid neuropathy. Mahima Kapoor et al., Practical Neurology, 2018. *Clinical, physiological and pathological ... Peripheral neuropathy in complex inherited diseases: an approach to diagnosis. Alexander M Rossor et al., Journal of Neurology ... Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses. Yusuf A Rajabally et al ... Long lists of causes of peripheral neuropathy make peripheral nerve disease a dry and uninspiring subject. A simple scheme ...
https://pn.bmj.com/content/11/2/62.full?abn?abn
Frontiers | Autonomic Neuropathy in Diabetes MellitusFrontiers | Autonomic Neuropathy in Diabetes Mellitus
The most studied and clinically important form of DAN is cardiovascular autonomic neuropathy (CAN) defined as the impairment of ... The most studied and clinically important form of DAN is cardiovascular autonomic neuropathy defined as the impairment of ... Diabetic autonomic neuropathy (DAN) is a serious and common complication of diabetes, often overlooked and misdiagnosed. It is ... Diabetic autonomic neuropathy (DAN) is a serious and common complication of diabetes, often overlooked and misdiagnosed. It is ...
https://www.frontiersin.org/articles/10.3389/fendo.2014.00205/full
Radial tunnel syndrome - WikipediaRadial tunnel syndrome - Wikipedia
Hereditary neuropathy with liability to pressure palsy. *Familial amyloid neuropathy. Autoimmune and demyelinating disease. * ... "Radial tunnel syndrome in an elite power athlete: a case of direct compressive neuropathy". Journal of the Peripheral Nervous ...
https://en.wikipedia.org/wiki/Radial_tunnel_syndrome
Podiatry Billing - General Medicare Coverage GuidelinesPodiatry Billing - General Medicare Coverage Guidelines
Amyloid neuropathy. *(Note: If a condition above has an asterisk, the patient must be under the active care of a doctor of ...
https://thevallettagroup.com/podiatry-billing-general-medicare-coverage-guidelines/
Búsqueda | BVS BoliviaBúsqueda | BVS Bolivia
Abdominal fat biopsy was negative for amyloid. Sural nerve biopsy was suggestive of amyloid neuropathy. Genetic analysis showed ... Novel transthyretin gene mutation in familial amyloid neuropathy in India: Case. Rohatgi, Shalesh; Nirhale, Satish; Manohar, ... Familial amyloid polyneuropathy (PN), also known as amyloid transthyretin (TTR)-PN is an autosomal dominant adult-onset fatal ... It occurs due to mutations in (TTR) gene which leads to a faulty TTR protein which folds up to form amyloid and gets deposited ...
https://pesquisa.bvsalud.org/bolivia/?lang=es&q=au:Gupta,+Sahil
Search resultsSearch results
AMYLOID NEUROPATHY DUE TO MONOCLONAL GAMMOPATHY. A CASE REPORT.NEUNDORFER B; MEYER. JG. ; VOLK B et al.1977; J. NEUROL.; GERM ...
https://pascal-francis.inist.fr/vibad/index.php?action=search&lang=en&terms=%22MEYER+JG%22&index=au
Liver transplantation for hepatocellular carcinoma<...
Familial Amyloid Neuropathies Medicine & Life Sciences 13% * Electroporation Medicine & Life Sciences 10% ... Domino liver transplantation using the livers of patients with familial amyloid polyneuropathy was also another option for ... Domino liver transplantation using the livers of patients with familial amyloid polyneuropathy was also another option for ... Domino liver transplantation using the livers of patients with familial amyloid polyneuropathy was also another option for ...
https://kyushu-u.pure.elsevier.com/en/publications/liver-transplantation-for-hepatocellular-carcinoma
AmyloidosisFamilial amyloid polyneDeposition of amyloid proteinFibrilsSensoryDepositsCerebral Amyloid AnTransthyretinMultifocal neuropathiesPolyneuropathyFibril depositionInflammatory neuropathiesCardiomyopathyCardiacPathophysiologyCaused by the depositionBiopsyDISORDERSInvolvementMetabolicAxonalSymptomsLiverAsymmetricNervesChronicMild peripheral neuropathy2018PlaquesMultidisciplinaryDiseaseClinically importantDiagnosisDiabetic neuropathy2017HumansSyndromesNerve
Amyloidosis19
  • Transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues. (medlineplus.gov)
  • The neuropathic form of transthyretin amyloidosis primarily affects the peripheral and autonomic nervous systems, resulting in peripheral neuropathy and difficulty controlling bodily functions. (medlineplus.gov)
  • Occasionally, people with the cardiac form of transthyretin amyloidosis have mild peripheral neuropathy. (medlineplus.gov)
  • Although histopathological confirmation of amyloid deposits has traditionally been considered mandatory for the diagnosis of ATTR amyloidosis, the development of noninvasive imaging techniques in the field of cardiology, such as echocardiography, magnetic resonance imaging, and nuclear imaging, enabled nonbiopsy diagnosis of this disease. (springer.com)
  • Although a histopathological confirmation of amyloid deposits has traditionally been required for the diagnosis of ATTR amyloidosis, the development of noninvasive imaging techniques enabled nonbiopsy diagnosis of this disease. (springer.com)
  • Amyloidosis is caused by the deposition of amyloid fibrils composed of misfolded protein in various organs. (springer.com)
  • We discuss clinical characteristics, the underlying clonal profile, diagnostic workup and treatment considerations for five important subtypes: cold agglutinin disease, type I and II cryoglobulinemia, IgM-associated peripheral neuropathy, Schnitzler syndrome and IgM-associated AL amyloidosis. (haematologica.org)
  • We discuss the clinical characteristics, diagnostic workup and treatment considerations for five important subtypes: cold agglutinin disease (CAD), cryoglobulinemia, IgM-associated AL amyloidosis, IgM-related neuropathies and Schnitzler syndrome. (haematologica.org)
  • Mutated transthyretin is associated with the formation of amyloid fibrils, leading to the development of TTR-related amyloidosis (ATTR). (medscape.com)
  • Amyloid Polyneuropathy also known as Familial Amyloid Polyneuropathy (FAP) is a group of hereditary amyloidosis that cause malfunctioning of sensory or autonomic functions of the body due to the deposition of amyloid protein in peripheral nerves. (drvikram.com)
  • [ 6 , 9 ] ATTRv amyloidosis is often fatal owing to severe autonomic neuropathy, which leads to cachexia and inanition from poor gastrointestinal function and nutritional status. (medscape.com)
  • and other inherited neuropathies, including hereditary gelsolin amyloidosis and apolipoprotein AI amyloidosis. (medscape.com)
  • 15%-37% of patients with ATTRv amyloidosis with neuropathy are initially misdiagnosed with CIDP because of elevated cerebrospinal fluid protein levels. (medscape.com)
  • [ 10 ] If a patient with CIDP is not responding to immunotherapy, consider testing for neuropathy due to ATTRv amyloidosis. (medscape.com)
  • In 2021 she was awarded Pfizer International Society of Amyloidosis funding which has allowed her to create the Inaugural Cardiac Amyloid fellowship at St Vincent's. (aan.org.au)
  • Amyloidosis refers to a group of diseases resulting from abnormal deposition of amyloids in various tissues. (symptoma.com)
  • Amyloidosis cardiomyopathy is a rare and underdiagnosed disease characterized by amyloid fibril deposition in the myocardium. (lww.com)
  • Cardiac amyloidosis (CA) is a protein misfolding disorder characterized by the extracellular deposition of amyloid fibrils in the myocardium. (lww.com)
  • Primary amyloidosis (patients with multiple myeloma with asymptomatic deposition of amyloid plaques found on biopsy would be eligible if all other criteria are met). (survivornet.com)
Familial amyloid polyne4
  • The most important ethical problem in the procedure is the use of a diseased liver (e.g., familial amyloid polyneuropathy [FAP]) for a second recipient. (elsevier.com)
  • Familial amyloid polyneuropathy, the hereditary sensory autonomic neuropathies, Fabry disease, and the porphyrias are genetic diseases in which autonomic neuropathy is a common feature. (medscape.com)
  • Familial amyloid polyneuropathy (FAP) is often caused by a genetic mutation of the transthyretin gene. (medscape.com)
  • [ 5 ] Progression can be monitored with various scoring systems, including the Neuropathy Impairment Score, Neuropathy Impairment Score in the Lower Limbs, the polyneuropathy disability score, and the familial amyloid polyneuropathy staging system. (medscape.com)
Deposition of amyloid protein2
  • Brihana drugs are used to nourish nerves from the inside and reduce the deposition of amyloid protein by initiating its excretion from the body, which will improve the overall condition of the patient. (drvikram.com)
  • The deposition of amyloid protein may occur in the heart walls resulting in abnormal beating of the heart or may precipitate on the tongue causing tongue enlargement or it accumulates in the muscles resulting in abnormal contraction of muscles. (newdelhinews.net)
Fibrils1
  • ATTR-CM is characterized by build-up of amyloid protein fibrils on the walls of the left ventricle, the heart's main pumping chamber. (newdelhinews.net)
Sensory4
  • Symptoms in metabolic neuropathy can reflect sensory, motor, or autonomic involvement. (medscape.com)
  • In advanced stages, sensory symptoms may involve the anterior part of abdomen and trunk (hence the term "trunk neuropathy"), leading sometimes to the erroneous diagnosis of myelopathy. (medscape.com)
  • Currently, 5 types of hereditary sensory autonomic neuropathy (HSAN) have been defined (see Table 1). (medscape.com)
  • They suggested that motor and sensory axons in patients with uremic neuropathy were depolarized before dialysis, and hyperkalemia that was primarily responsible for uremic depolarization could contribute to the development of neuropathy. (medscape.com)
Deposits7
  • Protein deposits in these nerves result in a loss of sensation in the extremities (peripheral neuropathy). (medlineplus.gov)
  • Mutant transthyretin produced in the liver accumulates as amyloid deposits in the peripheral nervous system and autonomic nervous system. (medscape.com)
  • Cardiac MRI reveals a classic late enhancement due to the infiltrating amyloid deposits and can reveal atrial or ventricular amyloid infiltration. (medscape.com)
  • IgM deposits on skin nerves in anti-myelin-associated glycoprotein neuropathy. (qxmd.com)
  • Familial amyloidotic polyneuropathy (FAP) is one of the transthyretin (TTR) amyloidoses characterized by extracellular amyloid deposits and peripheral nerve involvement. (jnss.org)
  • Accordingly, little immune cell infiltration is observed around pre-fibrillar or fibrillar amyloid deposits, with the underlying mechanism for this phenomenon remaining poorly understood. (biomedcentral.com)
  • The amyloid protein deposits on the heart walls and as heart has low clearance, the walls they become stiff, resulting in the inability of the left ventricle to relax and fill with blood appropriately and adequately squeeze to pump blood out of the heart. (newdelhinews.net)
Cerebral Amyloid An2
  • @gbiffart Cranial Amyloid Angioplasty I suspect you mean "Cerebral Amyloid Angiopathy" I could not find anything on "Cranial Amyloid Angioplasty", but there is lots on Cerebral Amyloid Angiopathy if you Google it. (mayoclinic.org)
  • And for @lisalucier , I suspect you might find others under Cerebral Amyloid Angiopathy. (mayoclinic.org)
Transthyretin4
  • 2016). Transthyretin participates in beta-amyloid transport from the brain to the liver- involvement of the low-density lipoprotein receptor-related protein 1? . (up.pt)
  • Transthyretin Amyloid Cardiomyopathy (ATTR-CM) is a rare heart disease. (newdelhinews.net)
  • However, the prevalence of rare heart disease s has failed to attract the due recognition leading to lack of knowledge resulting in extremely late diagnosis and treatment IHW council initiative, supported by Pfizer, held a live online seminar on 4th November 2022 in association with TOI to increase knowledge on one of the lesser-known rare diseases, Transthyretin Amyloid Cardiomyopathy . (newdelhinews.net)
  • Transthyretin Amyloid Cardiomyopathy ( ATTR-CM ) is an under-diagnosed and potentially fatal disease. (newdelhinews.net)
Multifocal neuropathies1
  • The Thomas and Boulton classifications distinguish between generalized symmetric polyneuropathies (DPNs) and focal/multifocal neuropathies ( 4 , 5 ). (frontiersin.org)
Polyneuropathy7
  • Dominic Ferry, MD, is a board-certified neurophysiologist who specializes in neuromuscular conditions such as Lou Gehrig's disease (amyotrophic lateral sclerosis [ALS]), myasthenia gravis, chronic inflammatory demyelinating polyneuropathy (CIDP), amyloid neuropathy and muscle diseases. (ucsd.edu)
  • Polyneuropathy means the malfunctioning of many nerves simultaneously due to aggravated amyloid. (drvikram.com)
  • The prevalence of Amyloid Polyneuropathy worldwide is not known. (drvikram.com)
  • Amyloid Polyneuropathy is caused due to deposition of amyloid proteins in the peripheral nerves. (drvikram.com)
  • Amyloid Polyneuropathy is a severe disease. (drvikram.com)
  • Inherited Amyloid Polyneuropathy is caused due to mutation in proteins - TTR, Gelsolin, and apolipoprotein A1. (drvikram.com)
  • Uremic neuropathy is a distal sensorimotor polyneuropathy caused by uremic toxins. (medscape.com)
Fibril deposition1
  • Patients may also present with atrial arrhythmias or conduction system disease due to amyloid fibril deposition within areas responsible for electrical impulse conduction. (medscape.com)
Inflammatory neuropathies1
  • Immunofluorescence staining of teased nerve fibers has contributed to the understanding of the pathophysiology of inflammatory neuropathies. (qxmd.com)
Cardiomyopathy3
  • Amyloid proteins can aggregate in any vessel of the body example - amyloid deposition in cardiac muscles can cause cardiomyopathy, deposition of amyloid proteins in urinary/genital nerves can cause urogenital disorders, deposition of amyloid proteins in ocular nerves can cause ocular manifestations, and so on. (drvikram.com)
  • Symptoms vary widely, but can include cardiomyopathy, peripheral neuropathy and autonomic neuropathy. (23andme.com)
  • Dr Bart is the lead of the Infiltrative Cardiomyopathy group at Victor Chang Cardiac Research Institute and has established a state-of-the-art multidisciplinary amyloid clinic at St Vincent's Hospital. (aan.org.au)
Cardiac3
  • Congo Red staining of a cardiac biopsy specimen containing amyloid, viewed under polarized light. (medscape.com)
  • Cardiac alterations initially start with a relative increase of the sympathetic tone, since diabetic neuropathy firstly affects longest fibers as those of parasympathetic system (like the vagus nerve). (frontiersin.org)
  • He said - "The body's clearance level has gone down and abnormal deviation of protein production, resulting in cardiac amyloid. (newdelhinews.net)
Pathophysiology1
  • The pathophysiology of autonomic neuropathies is variable and depends upon the underlying medical conditions. (medscape.com)
Caused by the deposition1
  • Not all Amyloid neuropathy is genetic however, some are caused by the deposition of paraprotein, lymphomas, and myelomas. (drvikram.com)
Biopsy7
  • Biopsy of an organ with impaired function (eg, heart, GI tract) can definitively establish a cause-and-effect relationship between organ dysfunction and amyloid deposition. (medscape.com)
  • To give an overview of recent data on the use of nerve and skin biopsy as a diagnostic tool in neuropathies. (qxmd.com)
  • Nerve biopsy has unexpectedly revealed familial amyloid neuropathy in a number of cases that were taken for idiopathic, for Charcot-Marie-Tooth disease, or for chronic inflammatory demyelinating polyradiculoneuropathy. (qxmd.com)
  • Skin biopsy can differentiate between length-dependent and non-length-dependent small fiber neuropathy, which aids in the etiological differential diagnosis. (qxmd.com)
  • Skin biopsy has become a routine method to diagnose small fiber neuropathy. (qxmd.com)
  • Superficial peroneal nerve/peroneus brevis muscle biopsy in vasculitic neuropathy. (qxmd.com)
  • Electromyography is indicated when certain diagnoses are being considered, such as amyotrophic lateral sclerosis, myasthenia gravis, neuropathy, and radiculopathy, and may also guide biopsy. (aafp.org)
DISORDERS1
  • Dr Antonia Carroll is a neurologist, neurophysiologist and clinician-researcher with specific interests in amyloid neuropathies and neuro-haematological disorders. (aan.org.au)
Involvement3
  • Involvement of nerves by entrapment is common in metabolic neuropathies. (medscape.com)
  • Human intravenous immunoglobulin: Small open-label studies have demonstrated improvement in diabetic peripheral neuropathy, especially in neuropathies with asymmetric involvement (eg, diabetic lumbosacral radiculoplexopathy) with intravenous immunoglobulin. (medscape.com)
  • It can also be used to identify small fiber involvement in mixed neuropathies and for follow-up studies. (qxmd.com)
Metabolic6
  • The presence of an entrapment neuropathy in children younger than 10 years is almost always suggestive of a rare metabolic disorder such as mucopolysaccharidosis or mucolipidosis or of hereditary neuropathy with liability to pressure palsy. (medscape.com)
  • Metabolic neuropathy can cause injury to both large and small nerve fibers. (medscape.com)
  • The best medical care for patients with metabolic neuropathy is control of the underlying metabolic condition, which results in better control of the neuropathy. (medscape.com)
  • No pharmacologic treatment exists for moderately severe to severe diabetic peripheral neuropathy or other metabolic neuropathies. (medscape.com)
  • and studies to rule out metabolic causes of neuropathy, including measurement of A1c and vitamin B 12 . (medscape.com)
  • In toxic neuropathy, dying back of axons is more severe in the distal aspect of the neuron and may result from a metabolic failure of the perikaryon. (medscape.com)
Axonal1
  • Standard screening investigations suffice for the common length dependent axonal neuropathies while complex presentations need more detailed investigations targeted to their clinical phenotype. (bmj.com)
Symptoms3
  • Symptoms consistent with HFpEF, along with concurrent peripheral/autonomic neuropathy, warrant consideration of ATTR as a diagnosis. (medscape.com)
  • Diabetic neuropathy is classically defined as "the presence of symptoms and/or signs of peripheral nerve dysfunction in people with diabetes after the exclusion of other causes" ( 3 ). (frontiersin.org)
  • The treatment requires multiple modalities according to the symptoms and the type of amyloid protein the person is suffering from. (drvikram.com)
Liver1
  • Liver transplantation, currently the most effective treatment for FAP, may slow the development of autonomic neuropathy, but not in all cases. (medscape.com)
Asymmetric1
  • Asymmetric weakness is more common in neurologic conditions, whereas pain is more common in neuropathies or radiculopathies. (aafp.org)
Nerves4
  • Rarely, a mutation in the gelsolin gene, which produces a protein important in cytoskeletal actin function, may also lead to amyloid deposition in autonomic nerves. (medscape.com)
  • Amyloid is an insoluble protein that aggregates in blood vessels and nerves. (drvikram.com)
  • This leads to Rakt dushti and Sira dushti (vitiation of body nerves and blood due to deposition of amyloid proteins). (drvikram.com)
  • Amyloid build up occurs primarily in the nerves that detect touch, pain , heat, and sound. (symptoma.com)
Chronic1
  • Chronic dialysis may prevent neuropathy in some patients, especially if begun early. (medscape.com)
Mild peripheral neuropathy1
  • This treatment seems to benefit only patients with mild peripheral neuropathy associated with diabetes. (medscape.com)
20181
  • Material y método: Estudio observacional retrospectivo en el que se comparó una cohorte del 14 marzo al 21 de junio de 2020 (grupo pandemia, n = 62) con una cohorte control en las mismas fechas de los años 2017, 2018 y 2019 (grupo control, n = 172). (bvsalud.org)
Plaques1
  • 2017). Multimodal imaging Gd-nanoparticles functionalized with Pittsburgh compound B or a nanobody for amyloid plaques targeting . (up.pt)
Multidisciplinary1
  • A multidisciplinary approach is required, particularly for IgM-related neuropathies and Schnitzler syndrome. (haematologica.org)
Disease2
  • Long lists of causes of peripheral neuropathy make peripheral nerve disease a dry and uninspiring subject. (bmj.com)
  • Various amyloid proteins particularly cause disease progress. (drvikram.com)
Clinically important1
  • The most studied and clinically important form of DAN is cardiovascular autonomic neuropathy defined as the impairment of autonomic control of the cardiovascular system in patients with diabetes after exclusion of other causes. (frontiersin.org)
Diagnosis1
  • The diagnosis of a uremic peripheral neuropathy is established by medical history, neurologic examination, and electrophysiological studies. (medscape.com)
Diabetic neuropathy6
  • However, control of hyperglycemia has been demonstrated to decrease progression of diabetic neuropathy. (medscape.com)
  • Aldose reductase inhibitors: A meta-analysis of randomized controlled trials of aldose reductase inhibitors indicates that benefits of treatment have not been demonstrated conclusively in diabetic neuropathy. (medscape.com)
  • Neurotrophic factors: Neurotrophic factors have been tested in animal models of diabetic neuropathy. (medscape.com)
  • Treatment of painful neuropathy: The AAN guideline for treatment of painful diabetic neuropathy (PDN) from 2011 established pregabaline as effective treatment (Level A Evidence). (medscape.com)
  • Tricyclic antidepressants: Tricyclic antidepressants have been shown to be effective in treating painful diabetic neuropathy. (medscape.com)
  • Diabetic neuropathy is the main cause of neuropathy in the world ( 1 ). (frontiersin.org)
20171
  • 2017). C1q ablation exacerbates amyloid deposition: A study in a transgenic mouse model of ATTRV30M amyloid neuropathy . (up.pt)
Humans1
  • Deletion of serine 63 from P0 (P0S63del) protein in myelin forming Schwann cells causes Charcot-Marie-Tooth type 1B neuropathy in humans and mice. (jneurosci.org)
Syndromes1
  • Autonomic neuropathies are a collection of syndromes and diseases affecting the autonomic neurons, either parasympathetic or sympathetic, or both. (medscape.com)
Nerve1
  • In 1971, Dyck and colleagues established the current concept of uremic neuropathy based on their extensive nerve conduction studies in vivo and in vitro, as well as light and electron microscopy studies. (medscape.com)
Metabolic Neuropathy Clinical Presentation: History, Physical, Causes
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Satellite Symposium: Portuguese TTR Amyloid Neuropathy - The 10th World Congress on CONTROVERSIES IN NEUROLOGY (CONy)
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Psen1 (presenilin 1) - Rat Genome Database
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Neurology - Research output - Mayo Clinic
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Light-Chain Deposition Disease: Practice Essentials, Pathophysiology, Epidemiology
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Multidisciplinary Approaches for Transthyretin Amyloidosis | SpringerLink
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Immunoglobulin-Related Amyloidosis Clinical Presentation: History, Physical Examination
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Frequência de Envolvimento Cardiovascular na Polineuropatia Amiloidótica Familiar em Pacientes Brasileiros - Sanar Medicina
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Publications | www.ibmc.up.pt
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Amyloidosis: Definition of Amyloid and Amyloidosis, Classification Systems, Systemic Amyloidoses
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Seizures & Syncope | Clinical Neurology, 10e | AccessNeurology | McGraw Hill Medical
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What Is AL Amyloidosis? | oneAMYLOIDOSISvoice
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(emedicine.medscape.com)
(emedicine.medscape.com)