Amyloid neuropathies familial. Medical search

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)

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.

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.

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.

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.

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)

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.

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.

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.

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.

Accumulations of extracellularly deposited AMYLOID FIBRILS within tissues.

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)

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.

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)

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)

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)

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.

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.

A branch of the tibial nerve which supplies sensory innervation to parts of the lower leg and foot.

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.

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)

Branch of medicine concerned with the prevention and control of disease and disability, and the promotion of physical and mental health of the population on the international, national, state, or municipal level.

A salicylate derivative and anti-inflammatory analgesic with actions and side effects similar to those of ASPIRIN.

The transference of a part of or an entire liver from one human or animal to another.

Association with or participation in an act that is, or is perceived to be, criminal or immoral. One is complicitous when one promotes or unduly benefits from practices or institutions that are morally or legally suspect.

Literary or artistic items having an erotic theme. It refers especially to books treating sexual love in a sensuous or voluptuous manner. (Webster, 3d ed)

Polymers made up of a few (2-20) nucleotides. In molecular genetics, they refer to a short sequence synthesized to match a region where a mutation is known to occur, and then used as a probe (OLIGONUCLEOTIDE PROBES). (Dorland, 28th ed)

A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)

Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.

The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

Short fragments of DNA or RNA that are used to alter the function of target RNAs or DNAs to which they hybridize.

An analytical method used in determining the identity of a chemical based on its mass using mass analyzers/mass spectrometers.

The teaching staff and members of the administrative staff having academic rank in a medical school.

The teaching staff and members of the administrative staff having academic rank in an educational institution.

A mass spectrometry technique using two (MS/MS) or more mass analyzers. With two in tandem, the precursor ions are mass-selected by a first mass analyzer, and focused into a collision region where they are then fragmented into product ions which are then characterized by a second mass analyzer. A variety of techniques are used to separate the compounds, ionize them, and introduce them to the first mass analyzer. For example, for in GC-MS/MS, GAS CHROMATOGRAPHY-MASS SPECTROMETRY is involved in separating relatively small compounds by GAS CHROMATOGRAPHY prior to injecting them into an ionization chamber for the mass selection.

Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-IV, 1994)

The teaching staff and members of the administrative staff having academic rank in a dental school.

Diseases in which there is a familial pattern of AMYLOIDOSIS.

The study of the similarities and differences in the structures of homologous tissues across various species.

A species of the fungus CRYPTOCOCCUS. Its teleomorph is Filobasidiella bacillispora.

Capture of a dimeric intermediate during transthyretin amyloid formation. (1/93)

Point mutations in the human plasma protein transthyretin are associated with the neurological disorder familial amyloidosis with polyneuropathy type 1. The disease is characterized by amyloid fibril deposits causing damage at the site of deposition. Substitution of two amino acids in the hydrophobic core of transthyretin lead to a mutant that was very prone to form amyloid. In addition, this mutant has also been shown to induce a toxic response on a neuroblastoma cell line. Renaturation of the transthyretin mutant at low temperature facilitated the isolation of an amyloid-forming intermediate state having the apparent size of a dimer. Increasing the temperature effectively enhanced the rate of interconversion from a partly denatured protein to mature amyloid. Using circular dichroism the beta-sheet content of the formed mature fibrils was significantly lower than that of the native fold of transthyretin. Morphology studies using electron microscopy also indicated a temperature-dependent transformation from amorphous aggregates toward mature amyloid fibrils. In addition, 1-anilino-8-naphtalenesulfonate fluorescence studies suggested the loss of the thyroxin-binding channel within both the isolated intermediate and the mature fibrils. (+info)

Deposition of transthyretin in early stages of familial amyloidotic polyneuropathy: evidence for toxicity of nonfibrillar aggregates. (2/93)

Familial amyloidotic polyneuropathy (FAP) is a neurodegenerative disorder characterized by extracellular deposition of transthyretin (TTR) amyloid fibrils, particularly in the peripheral nervous system. No systematic immunohistochemical data exists relating TTR deposition with FAP progression. We assessed nerves from FAP patients in different stages of disease progression (FAP 0 to FAP 3) for TTR deposition by immunohistochemistry, and for the presence of amyloid fibrils by Congo Red staining. The nature of the deposited material was further studied by electron microscopy. We observed that early in FAP (FAP 0), TTR is already deposited in an aggregated nonfibrillar form, negative by Congo Red staining. This suggested that in vivo, preamyloidogenic forms of TTR exist in the nerve, in a stage before fibril formation. Cytotoxicity of nonfibrillar TTR was assessed in nerves of different FAP stages by immunohistochemistry for macrophage colony-stimulating factor. FAP 0 patients already presented increased axonal expression of macrophage colony-stimulating factor that was maintained in all other stages, in sites related to TTR deposition. Toxicity of synthetic TTR fibrils formed in vitro at physiological pH was studied on a Schwannoma cell line by caspase-3 activation assays and showed that early aggregates but not mature fibrils are toxic to cells. Taken together, these results show that nonfibrillar cytotoxic deposits occur in early stages of FAP. (+info)

Myocardial muscarinic receptor upregulation and normal response to isoproterenol in denervated hearts by familial amyloid polyneuropathy. (3/93)

BACKGROUND: Patients with familial amyloid polyneuropathy, a rare hereditary form of amyloidosis, have progressive autonomic neuropathy. The disease usually does not induce heart failure but is associated with sudden death, conduction disturbances, and an increased risk of complications during anesthesia. Although cardiac sympathetic denervation has been clearly demonstrated, the postsynaptic status of the cardiac autonomic nervous system remains unelucidated. METHODS AND RESULTS: Twenty-one patients were studied (age, 39+/-11 years; normal coronary arteries; left ventricular ejection fraction 68+/-9%). To evaluate the density and affinity constants of myocardial muscarinic receptors, PET with (11)C-MQNB (methylquinuclidinyl benzilate), a specific hydrophilic antagonist, was used. Cardiac beta-receptor functional efficiency was studied by the heart rate (HR) response to intravenous infusion of isoproterenol (5 minutes after 2 mg of atropine, 5, 10, and 15 ng/kg per minute during 5 minutes per step). The mean muscarinic receptor density was higher in patients than in control subjects (B'(max), 35.5+/-8.9 versus 26.1+/-6.7 pmol/mL, P=0.003), without change in receptor affinity. The increase in HR after injection of atropine as well as of MQNB was lower in patients compared with control subjects despite a similar basal HR (DeltaHR after atropine, 11+/-21% versus 62+/-17%; P<0.001), consistent with parasympathetic denervation. Incremental infusion of isoproterenol induced a similar increase in HR in patients and control subjects. CONCLUSIONS: Cardiac autonomic denervation in familial amyloid polyneuropathy results in an upregulation of myocardial muscarinic receptors but without change in cardiac beta-receptor responsiveness to catecholamines. (+info)

Results of liver transplantation for familial amyloid polyneuropathy type I in Brazil. (4/93)

Familial amyloid polyneuropathy type I (FAP-I) is an inherited amyloidosis secondary to systemic deposition of amyloid fibrils containing mutant transthyretin (TTR) variants. The disease has a progressive clinical course and is usually fatal 10 years after its onset. TTR is mainly produced in hepatocytes, and liver transplantation (LT) has been proposed as an effective treatment for FAP-I. The aim of this study is to evaluate the results of LT for FAP-I in Brazil and analyze prognostic factors associated with survival after surgery. Twenty-four patients (median age, 36 years; range, 25 to 52 years) who underwent LT with the diagnosis of FAP-I were evaluated. Surgery was uneventful in all but six patients who died of complications of primary liver nonfunction (n = 1), cardiogenic shock (n = 1), sepsis (n = 3), and hepatic artery thrombosis (n = 3). Overall 1- and 5-year survival rates were 70% and 58%, respectively. Most patients had stabilization or improvement of symptoms after a median follow-up of 36 months (range, 14 to 82 months). Survivors had a shorter disease duration before LT (median, 6 years; range, 2 to 17 years v 9 years; range, 7 to 12 years; P =.02), greater albumin levels (median, 4 g/dL; range, 3 to 4.7 g/dL v 3.6 g/dL; range, 2.6 to 4.1 g/dL; P =.03), and greater modified body mass index scores (median, 735; range, 502 to 1,432 v 659; range, 411 to 803; P =.04) compared with nonsurvivors. However, only disease duration and albumin levels were independently associated with survival in multivariate analysis. In conclusion, LT is an effective therapy for FAP-I. Mortality after surgery is associated with poor nutritional status and long-standing disease before LT. Thus, LT should be performed as early as possible after the onset of FAP-I symptoms to avoid major disability and improve survival. (+info)

Long-term follow-up of survival of liver transplant recipients with familial amyloid polyneuropathy (Portuguese type). (5/93)

Portuguese type familial amyloid polyneuropathy is a dominantly inherited neuropathic amyloidosis caused by a mutant transthyretin (TTR). Because TTR is produced mainly by the liver, liver transplantation (LT) abolishes production of the amyloidogenic variant TTR. To date, the procedure appears to halt the progress of the disease. However, long-term outcome is unknown. The aim of the present study is to evaluate the survival of our initial group of unselected liver transplant recipients with FAP. Seventy patients, 51 transplant recipients and a control group of 19 nontransplantation patients, with disease onset before the age of 55 years were included on the study. Transplant recipients were divided into two categories: (1) early series, with patients followed up for 5 years or longer, and (2) new series, with patients followed up for 1 to 5 years. Nonparametric statistical methods were used. Binary regression analyses were performed by stepwise logistic regression and Cox proportional hazard regression. Survival analysis was performed using Kaplan-Meier analysis, the Cox-Mantel test. Survival analyses and Cox proportional hazard regression analysis were performed from disease onset, not from LT. Significantly decreased survival was noted for transplant recipients with a modified body mass index (mBMI) less than 600 compared with the control group (P < .05). A significant difference in survival also was observed between transplant recipients with an mBMI greater than 600 at the time of LT compared with those with an mBMI less than 600 (P < .02). mBMI and age at LT had a significant impact on survival; whereas late deaths were related to age at LT, early deaths were related to mBMI. The cumulative 10-year survival rate after disease onset was 94% in the new series, with one early death (< 6 months) after LT, compared with a 78% survival rate and eight early deaths in the early series (P = .1). (+info)

Effect of the intestinal flora on amyloid deposition in a transgenic mouse model of familial amyloidotic polyneuropathy. (6/93)

Familial amyloidotic polyneuropathy (FAP) is a hereditary disease characterized by the systemic accumulation of amyloid fibrils. A mutant transthyretin (TTR) gene is mainly responsible for the disease. However, the variable age of onset and low penetrance might be due to environmental factors, one of which is the intestinal flora. Three types of intestinal flora were introduced into a transgenic (Tg) mouse FAP model, 6.0-hMet30. The CV1 and CV2 group transgenic mice were transferred with the intestinal flora from two different mouse facilities housed under conventional conditions, and the SPF group transgenic mice were kept under specific pathogen free conditions in our facility. All the mice were maintained under controlled temperature, humidity and bacterial conditions. Over a period of 28 months, amyloid was not deposited in the SPF and CV1 groups. In contrast, amyloid was deposited in the esophagus and small intestine of two of the three CV2 mice at 18 months. Many neutrophils infiltrated the lesions. The numbers of tissue neutrophils were higher in the CV2 group than in the SPF and CV1 groups at 18 months. The CV2 flora included fewer gram-positive anaerobic cocci as well as higher proportions of yeasts, staphylococci and enterobacteriaceae compared with the SPF and CV1 flora. These findings suggest that the intestinal flora plays an important role in amyloid deposition. (+info)

Evidence for early cytotoxic aggregates in transgenic mice for human transthyretin Leu55Pro. (7/93)

Familial amyloidotic polyneuropathy (FAP) is a lethal autosomal dominant disorder characterized by systemic extracellular deposition of transthyretin (TTR) amyloid fibrils. Several groups have generated transgenic mice carrying human TTR Val30Met, the most common mutation in FAP. To study amyloidogenicity and cytotoxicity of different TTRs, we produced transgenic mice expressing human TTR Leu55Pro, one of the most aggressive FAP-related mutations. TTR deposition and presence of amyloid fibrils was investigated and compared to animals carrying the human TTR Val30Met gene kept under the same conditions. Deposition in a C57BL/6J background (TTR-Leu55Pro mice) and in a TTR-null background [TTR-Leu55Pro X TTR-knockout (KO) mice] was compared. Animals in a C57BL/6J background presented early (1 to 3 months) nonfibrillar TTR deposition but amyloid was absent. In a TTR-null background, presence of amyloid fibrils was detected starting at 4 to 8 months with a particular involvement of the gastrointestinal tract and skin. This data suggested that TTR homotetramers are more prone to fibril formation than TTR murine wild-type/human mutant heterotetramers. The nature of the deposited material was further investigated by immunocytochemistry. Both amorphous aggregates and small TTR fibrils were present in TTR-Leu55Pro X TTR-KO transgenics. We observed that these TTR deposits mimic the toxic effect of TTR deposits in FAP: animals with TTR deposition, present approximately twofold increased levels of nitrotyrosine in sites related to deposition. The TTR-Leu55Pro X TTR-KO mice here described are an important tool for the dual purpose of investigating factors involved in amyloidogenesis and in cytotoxicity of deposited TTR. (+info)

Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy. (8/93)

BACKGROUND: Portuguese type familial amyloid polyneuropathy (FAP) is a neuropathic amyloidosis caused by a mutant transthyretin (TTR). Varying degrees of renal involvement have been reported. Our aim was to assess the value of microalbuminuria (MA) for predicting clinical neurological disease and overt nephropathy in TTR-related amyloidosis. METHODS: All subjects had the TTR Val30Met mutation, and were recruited between 1993 and 1999. We have prospectively evaluated 22 asymptomatic gene carriers (7 male, 15 female; mean age 41.6+/-9.6 years) and 32 patients with neuropathy (14 male, 18 female; 36.8+/-8.8 years, on average, 33.0+/-9.3 years at the onset of neuropathy). We measured urinary albumin excretion every year, if asymptomatic, or every 6 months if already affected. Kidney biopsies were performed in patients with normal urinary albumin excretion, MA, and overt nephropathy, respectively. RESULTS: In asymptomatic carriers, persistent MA was detected in eight (36%) subjects. The presence of MA in asymptomatic gene carriers, compared with those having normal urinary albumin excretion, conferred a 4.8-fold risk of developing neuropathy, usually within the subsequent 3 years. Once neurological signs appeared, nephropathy, manifested as MA, progressed to overt nephropathy in one-half of subjects. In patients with neuropathy, 24 (75%) had MA during follow-up: evolution towards clinical renal disease occurred in 14 (58%) and renal failure occurred in five (21%), always after a course of MA. Proteinuria or renal failure without prior persistent MA were never observed in the present patient cohort. Histopathological evaluation did not reveal glomerular lesions other than amyloid deposits to explain abnormal urinary albumin excretion. The amount of mesangial and vascular-pole amyloid deposits was correlated with the degree of albuminuria. CONCLUSIONS: Microalbuminuria represents the first stage of clinical TTR amyloid nephropathy and is premonitory of neuropathy. Its presence identifies a subgroup of patients who are more prone to develop overt nephropathy. Screening of MA may be important to assess disease onset and to recommend liver transplantation in individuals at risk. (+info)

"Amyloid Neuropathies". The Mount Sinai Journal of Medicine, New York. 79 (6): 733-748. doi:10.1002/msj.21352. ISSN 0027-2507. ... Familial amyloid polyneuropathy, also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis ... Familial amyloid polyneuropathy. From Wikipedia, the free encyclopedia. (Redirected from Transthyretin-related hereditary ... Adams, D; Cauquil, C; Labeyrie, C (October 2017). "Familial amyloid polyneuropathy". Current Opinion in Neurology. 30 (5): 481- ...

https://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis

... amyloid neuropathies MeSH C10.668.829.050.050 - amyloid neuropathies, familial MeSH C10.668.829.100 - brachial plexus ... amyloid neuropathies, familial MeSH C10.574.500.300 - canavan disease MeSH C10.574.500.362 - cockayne syndrome MeSH C10.574. ... cerebral amyloid angiopathy MeSH C10.228.140.300.510.200.200.160 - cerebral amyloid angiopathy, familial MeSH C10.228.140.300. ... peroneal neuropathies MeSH C10.668.829.500.650 - radial neuropathy MeSH C10.668.829.500.675 - sciatic neuropathy MeSH C10.668. ...

https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C10)

... 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)

... 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 sensory and autonomic neuropathies MeSH C16.131.666.310.309 - dysautonomia, familial MeSH C16.131.666.410 - ...

https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C16)

Shin, Susan C.; Robinson-Papp, Jessica (November 2012). "Amyloid Neuropathies". The Mount Sinai Journal of Medicine, New York. ... Scott LJ (August 2014). "Tafamidis: a review of its use in familial amyloid polyneuropathy". Drugs. 74 (12): 1371-8. doi: ... Familial amyloid polyneuropathy, also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis ... The medication tafamidis has been approved for the treatment of transthyretin familial amyloid polyneuropathy in Europe. ...

https://en.wikipedia.org/wiki/Familial_amyloid_polyneuropathy

Familial amyloid neuropathy type IV Familial amyloidotic polyneuropathy (FAP) type IV Lattice corneal dystrophy, gelsolin type ... Familial Amyloidosis, Finnish Type (FAF), also called hereditary gelsolin amyloidosis and AGel amyloidosis (AGel), is an ... Meretoja, J. (December 1969). "Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial ... "The role of gelsolin domain 3 in familial amyloidosis (Finnish type)". Proceedings of the National Academy of Sciences. 116 (28 ...

https://en.wikipedia.org/wiki/Familial_Amyloidosis,_Finnish_Type

Diabetic neuropathy, peripheral neuropathy due to diabetes mellitus Familial amyloid neuropathies, a rare group of autosomal ... Neuropathy may refer to: Peripheral neuropathy, a condition affecting the nerves of the peripheral nervous system Cranial ... 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)

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 ... Due to the rareness of the other types of familial neuropathies, transthyretin amyloidogenesis-associated polyneuropathy should ... July 2006). "Impact of liver transplantation on cardiac autonomic denervation in familial amyloid polyneuropathy". Medicine ( ...

https://en.wikipedia.org/wiki/Familial_amyloid_neuropathy

Hereditary neuropathy with liability to pressure palsy. *Familial amyloid neuropathy. Autoimmune and demyelinating disease. * ...

https://en.wikipedia.org/wiki/Superior_oblique_myokymia?g2_itemId=410

Hereditary neuropathy with liability to pressure palsy. *Familial amyloid neuropathy. Autoimmune and demyelinating disease. * ... proximal diabetic neuropathy, Tarlov cysts, or, more rarely, sarcoidosis, arachnoiditis, tethered spinal cord syndrome, or ... a neuropathy). Radiculopathy can result in pain (radicular pain), weakness, numbness, or difficulty controlling specific ... Proximal diabetic neuropathy typically affects middle aged and older people with well-controlled type-2 diabetes mellitus; ...

https://en.wikipedia.org/wiki/Radiculopathy

Hereditary neuropathy with liability to pressure palsy. *Familial amyloid neuropathy. Autoimmune/demyelinating. *Guillain-Barré ... Familial inheritance has been found in 4-14% of cases.[15] Bell's palsy is three times more likely to occur in pregnant women ... "Familial idiopathic facial palsy". European Archives of Oto-Rhino-Laryngology. 257 (3): 117-9. doi:10.1007/s004050050205. PMID ...

https://en.wikipedia.org/wiki/Bell

Hereditary neuropathy with liability to pressure palsy. *Familial amyloid neuropathy. Autoimmune/demyelinating. *Guillain-Barré ...

https://en.wikipedia.org/wiki/Complex_regional_pain_syndrome

Hereditary neuropathy with liability to pressure palsy. *Familial amyloid neuropathy. Autoimmune/demyelinating. *Guillain-Barré ... and hence the syndrome lateral femoral cutaneous neuropathy).[2] The term "meralgia paraesthetica" combines four Greek roots to ... or damaged by diabetic or other neuropathy or trauma such as from seat belt injury in an accident. ...

https://en.wikipedia.org/wiki/Meralgia_paraesthetica

Familial amyloid neuropathy. *ACys+ABri/Cerebral amyloid angiopathy. *Aβ/Alzheimer's disease ... Amyloid light-chain (AL) amyloidosis, also known as primary amyloidosis, is the most common form of systemic amyloidosis in the ... These light chains come together to form amyloid deposits which can cause serious damage to different organs.[2][3] Abnormal ... "BU: Amyloid Treatment & Research Program". Archived from the original on 2008-07-20.. ...

https://en.wikipedia.org/wiki/AL_amyloidosis

Hereditary neuropathy with liability to pressure palsy. *Familial amyloid neuropathy. Autoimmune and demyelinating disease. * ... Dejerine-Sottas neuropathy is caused by a genetic defect either in the proteins found in axons or the proteins found in myelin. ... Dejerine-Sottas disease, also known as, Dejerine-Sottas neuropathy, progressive hypertrophic interstitial polyneuropathy of ... November 1993). "De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy ...

https://en.wikipedia.org/wiki/Dejerine–Sottas_disease

March 2007). "Severe ataxia with neuropathy in hereditary gelsolin amyloidosis: a case report". Amyloid. 14 (1): 89-95. doi: ... "Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American ... 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. ...

https://en.wikipedia.org/wiki/Lattice_corneal_dystrophy

Hereditary neuropathy with liability to pressure palsy. *Familial amyloid neuropathy. Autoimmune and demyelinating disease. * ... Anti-MAG peripheral neuropathy. *Charcot-Marie-Tooth disease and its counterpart Hereditary neuropathy with liability to ... Copper deficiency-associated conditions (peripheral neuropathy, myelopathy, and rarely optic neuropathy). *Progressive ...

https://en.wikipedia.org/wiki/Demyelinating_disease

Hereditary neuropathy with liability to pressure palsy. *Familial amyloid neuropathy. Autoimmune/demyelinating. *Guillain-Barré ... Acute motor axonal neuropathy (AMAN) Isolated muscle weakness without sensory symptoms in less than 10%; cranial nerve ... Acute motor and sensory axonal neuropathy (AMSAN) Severe muscle weakness similar to AMAN but with sensory loss - Axonal ... Eldar AH, Chapman J (April 2014). "Guillain Barré syndrome and other immune mediated neuropathies: diagnosis and classification ...

https://en.wikipedia.org/wiki/Guillain-Barre

Hereditary neuropathy with liability to pressure palsy. *Familial amyloid neuropathy. Autoimmune/demyelinating. *Guillain-Barré ... show signs of distal limb neuropathy. The posterior tibial nerve serves victim to peripheral neuropathy and often show signs of ... Tarsal tunnel syndrome (TTS), also known as posterior tibial neuralgia, is a compression neuropathy and painful foot condition ... Neuropathy can occur in the lower limb through many modalities, some of which include obesity and inflammation around the ...

https://en.wikipedia.org/wiki/Tarsal_tunnel_syndrome

Hereditary neuropathy with liability to pressure palsy. *Familial amyloid neuropathy. Autoimmune/demyelinating. *Guillain-Barré ... Posner, MA (Sep-Oct 1998). "Compressive ulnar neuropathies at the elbow: I. Etiology and diagnosis". J Am Acad Orthop Surg. 6 ( ... Symptoms of ulnar neuropathy or neuritis do not necessarily indicate an actual physical impingement of the nerve; indeed, any ... Ulnar neuropathy causes symptoms in a specific anatomic distribution, corresponding parts of the arm innervated by the ulnar ...

https://en.wikipedia.org/wiki/Cubital_tunnel_syndrome

Hereditary neuropathy with liability to pressure palsy. *Familial amyloid neuropathy. Autoimmune/demyelinating. *Guillain-Barré ... G60) Hereditary and idiopathic neuropathy *(G60.0) Hereditary motor and sensory neuropathy *Charcot-Marie-Tooth disease ... G13.0) Paraneoplastic neuromyopathy and neuropathy. *(G13.1) Other systemic atrophy primarily affecting central nervous system ...

https://en.wikipedia.org/wiki/ICD-10_Chapter_G

Hereditary neuropathy with liability to pressure palsy. *Familial amyloid neuropathy. Autoimmune and demyelinating disease. * ... Neuropathy OverviewCharcot-Marie-Tooth Neuropathy Type 1Charcot-Marie-Tooth Neuropathy X Type 5Charcot-Marie-Tooth Neuropathy X ... Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized ... The lack of family history does not rule out CMT, but is helpful to rule out other causes of neuropathy, such as diabetes or ...

https://en.wikipedia.org/wiki/Charcot–Marie–Tooth_disease

Reilly, Mary M.; King, Rosalind H. M. (1993). "Familial Amyloid Polyneuropathy". Brain Pathology. 3 (2): 165-176. doi:10.1111/j ... Reilly has worked on hereditary sensory and autonomic neuropathies and carpal tunnel syndrome in inherited neuropathies. Reilly ... Reilly earned her medical doctorate in 1996, focussing on familial amyloid polyneuropathy. She completed her neurological ... "Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy". Neuromuscular Disorders. 6: ...

https://en.wikipedia.org/wiki/Mary_Reilly_(academic)

... familial amyloid polyneuropathy (FAP), and familial amyloid cardiomyopathy (FAC). TTR tetramer dissociation is known to be rate ... Andrade C (September 1952). "A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special ... Treatment of familial TTR amyloid disease has historically relied on liver transplantation as a crude form of gene therapy. ... Coelho T (October 1996). "Familial amyloid polyneuropathy: new developments in genetics and treatment". Curr. Opin. Neurol. 9 ( ...

https://en.wikipedia.org/wiki/Transthyretin

EGR2 Dejerine-Sottas neuropathy, autosomal recessive; 145900; PRX Dejerine-Sottas syndrome; 145900; MPZ Dementia, familial ... VLDLR Cerebral amyloid angiopathy; 105150; CST3 Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants; ... PTHR1 Familial cold autoinflammatory syndrome 2; 611762; NALP12 Familial Mediterranean fever, AD; 134610; MEFV Familial ... familial, 3A; 604403; SCN1A Febrile convulsions, familial, 3B; 604403; SCN9A Febrilel, convulsions, familial; 611277; GABRG2 ...

https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes

For familial amyloidosis, ACE-inhibitors and beta-blockers can be prescribed if there is no autonomic neuropathy. Suppression ... Amyloid, the aggregation, or clumping, of proteins, is resistant to degradation by the body. Amyloids are mostly fibrils, while ... Familial (ATTRm-CM) Treatment: In recent years there have been developments in the treatment of Familial/Transthyretin cardiac ... Destruction of existing amyloid fibrils: There are multiple medications that show amyloid destroying properties, Doxycycline, ...

https://en.wikipedia.org/wiki/Cardiac_amyloidosis

ATTR, or familial transthyretin-associated amyloidosis, is suspected in people with family history of idiopathic neuropathies ... The names of amyloids usually start with the letter "A". Here is a brief description of the more common types of amyloid: As of ... 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 ...

https://en.wikipedia.org/wiki/Amyloidosis

Familial amyloid neuropathy. *ACys+ABri/Cerebral amyloid angiopathy. *Aβ/Alzheimer's disease ... Amyloid deposits deriving from islet amyloid polypeptide (IAPP, or amylin) are commonly found in pancreatic islets of patients ... It is thought that proIAPP forms the first granules that allow for IAPP to aggregate and form amyloid which may lead to amyloid ... Paulsson JF, Westermark GT (July 2005). "Aberrant processing of human proislet amyloid polypeptide results in increased amyloid ...

https://en.wikipedia.org/wiki/Amylin

In addition to the classic manifestations of Finnish type Familial Amyloidosis, cutis laxa, progressive peripheral neuropathy ... Amyloid. 5(1):55-66.. ... Gelsolin-related familial amyloidosis, Finnish type (FAF), and ... has originally been reported by Finnish ophthalmologist Jouko Meretoja and is known as Meretoja syndrome or Familial ...

https://en.wikipedia.org/wiki/Ardalan–Shoja–Kiuru_syndrome

... and other neuropathies (due to infiltration of peripheral nerves by amyloid) may occur. It may give rise to paraplegia in late- ... Studies have reported a familial predisposition to myeloma.[26][27] Hyperphosphorylation of a number of proteins-the paratarg ... People with amyloidosis have high levels of amyloid protein that can be excreted through the kidneys and cause damage to the ... Chemotherapy-induced peripheral neuropathy and thrombocytopenia are major side effects of bortezomib."[68] ...

https://en.wikipedia.org/wiki/Multiple_myeloma

... and by amyloid-beta senile plaques amyloid-beta senile plaques. Several genetic factors have been identified as contributing to ... AD, including mutations to the amyloid precursor protein (APP) and presenilins 1 and 2 genes, and familial inheritance of ... 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 ...

https://en.wikipedia.org/wiki/Epigenetics_of_neurodegenerative_diseases

Familial adenomatous polyposis I, II Recruiting Marina Biotech Unknown RXi-109 CTGF Self-delivering RNAi compound Cicatrix scar ... Studies in cells and in mouse have shown that specifically targeting Amyloid beta-producing genes (e.g. BACE1 and APP) by RNAi ... Optic atrophy, non-arteritic anterior ischaemic optic neuropathy I Completed Quark Pharmaceuticals NCT01064505 ... Two Phase III studies are in progress to treat familial neurodegenerative and cardiac syndromes caused by mutations in ...

https://en.m.wikipedia.org/wiki/RNA_interference

Mutations (over 150 identified to date) in this gene have been linked to familial amyotrophic lateral sclerosis.[18][19][20] ... "Calcium binding to gatekeeper residues flanking aggregation-prone segments underlies non-fibrillar amyloid traits in superoxide ... although they do exhibit a strong age-dependent distal motor neuropathy). ... SOD1 is one of three human superoxide dismutases.[5][6] It is implicated in apoptosis and familial amyotrophic lateral ...

https://en.m.wikipedia.org/wiki/SOD1

Familial hypercholesterolemia (T / good article since 15 May 2008), Familial Mediterranean fever, Gastrointestinal stromal ... 5-alpha reductase, ADAMTS13, Adipokine, Alpha-1 antitrypsin (T), Alpha 2-antiplasmin, Amyloid beta, Anti-neutrophil cytoplasmic ... Diabetic ketoacidosis (T / good article since 4 August 2009), Diabetic neuropathy (T)), Disseminated intravascular coagulation ... Familial adenomatous polyposis, Febrile neutropenia, Friedreich's ataxia (T), Gastrointestinal bleeding, Gastroesophageal ...

https://en.m.wikipedia.org/wiki/User:Jfdwolff

... familial Cerebral amyloid angiopathy Cerebral aneurysm Cerebral autosomal dominant arteriopathy with subcortical infarcts and ... neuronal 4 Cervical cancer Cervical hypertrichosis neuropathy Cervical hypertrichosis peripheral neuropathy Cervical ribs ... progressive familial intrahepatic 1 Cholestasis, progressive familial intrahepatic 2 Cholestasis, progressive familial ... familial neonatal dominant form Convulsions benign familial neonatal Cooks syndrome Cooley's anemia Copper deficiency familial ...

https://en.wikipedia.org/wiki/List_of_diseases_(C)

Familial alpha-lipoprotein deficiency (Tangier disease) Familial amyloid polyneuropathy Familial apoprotein CII deficiency ... Cerebral dysgenesis-neuropathy-ichthyosis-keratoderma syndrome Childhood tumor syndrome Chondrodysplasia punctata Cicatricial ... Familial benign chronic pemphigus (familial benign pemphigus, Hailey-Hailey disease) Fanconi syndrome (familial pancytopenia, ... Familial defective apolipoprotein B-100 Familial dysbetalipoproteinemia (broad beta disease, remnant removal disease) Familial ...

https://en.wikipedia.org/wiki/List_of_skin_conditions

February 2006). "Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2". Annals of Neurology. 59 (2): 276- ... MFN2 is a key substrate of the PINK1/parkin couple, whose mutations are linked to the familial forms of Parkinson's disease (PD ... 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 ...

https://en.wikipedia.org/wiki/MFN2

Rossides M, Grunewald J, Eklund A, Kullberg S, Di Giuseppe D, Askling J, Arkema EV (August 2018). "Familial aggregation and ... 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: ...

https://en.wikipedia.org/wiki/Sarcoidosis

https://en.wikipedia.org/wiki/Familial_amyloid_neuropathy

Familial Amyloid Neuropathies - Dormant Projects 52. Familial Amyloid Neuropathies - Discontinued Products 53. Familial Amyloid ... Familial Amyloid Neuropathies - Pipeline by Pfizer Inc, H2 2016 20. Familial Amyloid Neuropathies - Pipeline by SOM Biotech SL ... Familial Amyloid Neuropathies - Pipeline by Alnylam Pharmaceuticals Inc, H2 2016 17. Familial Amyloid Neuropathies - Pipeline ... Familial Amyloid Neuropathies Overview 7. Therapeutics Development 8. Pipeline Products for Familial Amyloid Neuropathies - ...

https://www.marktforschung.de/studien-shop/marktdaten/familial-amyloid-neuropathies-pipeline-review-h2-2016-396890/

Familial Amyloid Neuropathies - Pipeline Review, H2 2017guarantees you will remain better informed than your competition. The ... Familial amyloid neuropathy is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein ... The Familial Amyloid Neuropathies (Metabolic Disorders) pipeline guide also reviews of key players involved in therapeutic ... Familial Amyloid Neuropathies (Metabolic Disorders) pipeline guide helps in identifying and tracking emerging players in the ...

https://www.medgadget.com/2018/01/familial-amyloid-neuropathies-pipeline-review-therapeutics-development-by-leading-key-players-alnylam-pharmaceuticals-ionis-pharmaceuticals-pfizer.html

Amyloid Neuropathies, Familial. Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID ...

https://www.chemwatch.net/resource-center/amyloid-neuropathies-familial/

Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different ...

https://selfdecode.com/disease/amyloid-neuropathies-familial/

familial amyloid polyneuropathy; TTR=. transthyretin; TTR-FAP=. transthyretin-related familial amyloid polyneuropathy. ... Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy. An ALS mimicker. Namita A. Goyal, Tahseen ... Familial amyloid polyneuropathy (FAP) is a life-threatening disease that can be caused by a mutation in the transthyretin (TTR ... Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. J Peripher Nerv Syst 2011;16:119- ...

https://ng.neurology.org/content/1/2/e18

Amyloid Neuropathies, Familial. D028227. Orphanet:85447. Familial amyloid polyneuropathy. 2. ClinicalTrials. Diabetes Mellitus ...

https://www.ebi.ac.uk/chembl/compound/inspect/CHEMBL898

Amyloid Neuropathies, Familial. Proteostasis Deficiencies. Metabolic Diseases. Peripheral Nervous System Diseases. ... Genetic and Rare Diseases Information Center resources: Familial Transthyretin Amyloidosis Amyloid Neuropathy ... small fiber neuropathy(0 to 16), autonomic neuropathy(0 to 12);higher score=greater impairment, for each. Total score=-2 to 138 ... active non-amyloid cardiomyopathy (e.g., symptomatic left ventricular dysfunction from any cause other than amyloid, patients ...

https://clinicaltrials.gov/show/NCT00630864

Amyloid Neuropathies. Amyloid Neuropathies, Familial. Proteostasis Deficiencies. Metabolic Diseases. Peripheral Nervous System ... Genetic and Rare Diseases Information Center resources: Familial Transthyretin Amyloidosis Amyloid Neuropathy ... FAP Familial Amyloid Polyneuropathy TTR Transthyretin Amyloidosis Drug: IONIS-TTR Rx Drug: Placebo Phase 3 ... Efficacy and Safety of IONIS-TTR Rx in Familial Amyloid Polyneuropathy. The safety and scientific validity of this study is the ...

https://clinicaltrials.gov/ct2/show/NCT01737398?recr=Open&cond=%22Family%22&rank=7

Amyloid Neuropathies, Familial Familial Amyloid Polyneuropathies Amyloid Neuropathies Amyloidosis, Hereditary, Transthyretin- ... Amyloid Neuropathies. Amyloid Neuropathies, Familial. Amyloidosis, Familial. Amyloidosis. Peripheral Nervous System Diseases. ... Genetic and Rare Diseases Information Center resources: Familial Transthyretin Amyloidosis Amyloid Neuropathy ... Modified Neuropathy Impairment Score +7 (mNIS+7) [ Time Frame: 18mo ]. The difference between the patisiran (ALN-TTR02) and ...

https://www.clinicaltrials.gov/ct2/show/NCT01960348

Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis Corino de Andrades Disease) Ongoing Global Clinical Trials Analysis ... Familial Amyloid Neuropathies - Pipeline Review, H1 2018 * Drug Pipelines. *. €1827EUR$2,000USD£1,655GBP ... 2.2 Overview of Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis Corino de Andrades Disease) Trials. 3 Clinical ... 7.4 Ongoing Familial Amyloid Polyneuropathy (Transthyretin Amyloidosis Corino de Andrades Disease) Trials- Phase 4. 8 Appendix ...

https://www.researchandmarkets.com/reports/4585286/familial-amyloid-polyneuropathy-transthyretin

Familial Amyloid Polyneuropathy Market: By Type (FAP-I, FAP-II, FAP-III, and FAP-IV), By Category (Peripheral Sensorimotor ... Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid neuropathy is a rare group of autosomal dominant diseases ... 5. Familial Amyloid Polyneuropathy Market, By Type 5.1. Familial Amyloid Polyneuropathy-I (FAP-I). 5.2. Familial Amyloid ... Familial Amyloid Polyneuropathy-III (FAP-III). 5.4. Familial Amyloid Polyneuropathy-IV (FAP-IV). 6. Familial Amyloid ...

https://www.researchandmarkets.com/reports/3973763/familial-amyloid-polyneuropathy-market-by-type

In hereditary amyloid neuropathies, the hands are often affected early. In acquired demyelinating neuropathies, the arms may be ... Patients with axonal neuropathy simulating an axonal form of CMT can occasionally turn out to have amyloid, especially if there ... Box 3 Focal and multifocal neuropathies. * Entrapment neuropathy-for example, carpel tunnel syndrome (CTS), ulnar nerve at ... Despite this high prevalence of neuropathy, it is only a small proportion of patients with neuropathies who are referred for ...

https://jnnp.bmj.com/content/74/suppl_2/ii3

... amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid ( ... Portuguese type familial amyloid neuropathy. *Swiss type amyloid polyneuropathy. *Type I familial amyloid polyneuropathy ... The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve. 2007 Oct;36(4):411-23. Review. Citation on ... Planté-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/

Definition of familial amyloidosis. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and ... Synonym(s): familial amyloid neuropathy. Print this page Disclaimer: This site is designed to offer information for general ...

https://www.drugs.com/dict/familial-amyloidosis.html

Disphosphonates cardiac uptake in familial amyloid neuropathy: Comparison between DPD and HMDP. ... Familial amyloid polyneuropathy (FAP) is a severe hereditary disease, due to production by the liver of a genetic variant ... transthyretin (TTR) resulting in tissue amyloid deposits. Cardiac involvement is of major prognostic value. Diphosphonate ...

https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-10-S1-P41

Amyloid Neuropathies. Disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. ... Familial hypercholesterolemia (FH) is known to greatly increase the ri.... Familial hypercholesterolemia and atherosclerotic ... Familial, primary (nonfamilial), and secondary forms have been described. Some familial subtypes demonstrate an autosomal ... Predicting cardiovascular disease in familial hypercholesterolemia.. Familial hypercholesterolemia is a frequent genetic ...

https://www.bioportfolio.com/resources/trial/180023/HDL-Acute-Lipid-Optimization-in-Homozygous-Familial-Hypercholesterolemia.html

Amyloid Neuropathies, Familial / diagnosis * Amyloid Neuropathies, Familial / genetics * Amyloid Neuropathies, Familial / ... In AL amyloidosis, amyloid protein is derived from immunoglobulin light chains, and most often involves the kidneys and the ...

https://pubmed.ncbi.nlm.nih.gov/28739313/

... (FAP) is a fatal hereditary amyloidosis. Until 20 years ago, FAP was ... Amyloid Neuropathies, Familial / epidemiology * Amyloid Neuropathies, Familial / genetics* * Amyloid Neuropathies, Familial / ... Transthyretin-related familial amyloidotic polyneuropathy Arch Neurol. 2005 Jul;62(7):1057-62. doi: 10.1001/archneur.62.7.1057 ... Transthyretin-related familial amyloidotic polyneuropathy (FAP) is a fatal hereditary amyloidosis. Until 20 years ago, FAP was ...

https://pubmed.ncbi.nlm.nih.gov/16009758/

In cases of familial amyloidosis, genetic testing in the blood may be useful. ... Treatment of amyloid neuropathies is directed at both preventing further deposition of amyloid in peripheral nerves and ... Amyloid Neuropathy. Disorders of peripheral nerves are the most common neurological complications of systemic amyloidosis; an ... Diagnosis of amyloid neuropathies is based on history, clinical examination and supporting laboratory investigations. These ...

https://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/peripheral_nerve/conditions/amyloid_neuropathy.html

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 ... AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms ... Median Neuropathy. Disease involving the median nerve, from its origin at the BRACHIAL PLEXUS to its termination in the hand. ...

https://www.bioportfolio.com/resources/trial/72037/Open-Label-Study-Evaluating-Synera-in-the-Treatment-of-Patients-With-Carpal.html

Familial Amyloid Neuropathies Antisense Oligonucleotide 2018 (Marketed) Onpattro (patisiran) Alnylam Pharmaceuticals Familial ... Homozygous Familial Hypercholesterolemia Antisense Oligonucleotide 2016 (Marketed) Defitelio (defibrotide sodium) Jazz ... received conditional marketing authorization from the European Commission as an adjunct to diet for patients with familial ...

https://www.bachem.com/service-support/newsletter/oligonucleotide-trends-january-2020/

Familial dysautonomia (Riley day syndrome). Familial amyloid neuropathy. Sensory Neuropathy:. - diabetic neuropathy. - ... sarcoid neuropathy. - postinfectious small fiber sensory neuropathy. - amyloid neuropathy. - lyme neuropathy. - HIV neuropathy ... Amyloid neuropathy. Giantism w/ hypertrophic neuropathy. Impaired pain sensitivity due to use of:. intraarticular and systemic ... Familial hereditary neuropathies. Charcot Marie Tooth disease. Hereditary sensory neuropathy. Hypertrophic intersitial ...

http://www.wheelessonline.com/ortho/diff_dx_neurogenic_joint_1

Familial Amyloid Neuropathies - Pipeline Review, H2 2019SummaryThe latest Pharmaceutical and Healthcare disease pipeline guide ...

https://www.reportlinker.com/p05151483/Global-Bioresorbable-Scaffolds-Industry.html

Familial Amyloid Neuropathies - Pipeline Review, H1 2020 Summary This latest Pharmaceutical and Healthcare disease pipeline ...

https://www.reportlinker.com/p05915397/Asia-Pacific-Brain-Aneurysm-Treatment-Market-Forecast-to-COVID-19-Impact-and-Regional-Analysis-By-Type-Condition-End-User.html

Amyloid Neuropathies; Familial/blood/genetics, Chromatography; Affinity/*methods, Humans, Immunoprecipitation/*methods, Mass ...

http://uu.diva-portal.org/smash/record.jsf?pid=diva2:38813

All types of amyloid contain a major fibril protein that defines the type of amyloid, plus minor components. ... Familial amyloid polyneuropathy (FAP): Sensory, motor and autonomic neuropathy; cachexia; leptomeningeal involvement ... Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA. 2013 Dec 25. 310(24):2658-67. [ ... Autonomic dysfunction in familial amyloidotic polyneuropathy (FAP). Amyloid. 1998 Dec. 5(4):288-300. [Medline]. ...

https://emedicine.medscape.com/article/335301-followup

familial amyloid neuropathy, finnish type. suppression amblyopia. *strabismic amblyopia. - elite association - COSMIC cancer ...

https://www.genecards.org/cgi-bin/carddisp.pl?gene=TNFRSF10C

Figure Familial Amyloid Neuropathies Examples. Table Key Downstream Customer in Familial Amyloid Neuropathies. Figure ... 1.3.2 Familial Amyloid Neuropathies. 1.3.3 Alzheimers Disease. 1.3.4 Cardomyopathy. 1.3.5 Neuropathy. 1.3.6 Others. 1.4 United ... Familial Amyloid Neuropathies. - Alzheimers Disease. - Cardomyopathy. - Neuropathy. - Others. If you have any special ... Figure Neuropathy Examples. Table Key Downstream Customer in Neuropathy. Figure Others Examples. Table Key Downstream Customer ...

http://www.reportsnreports.com/reports/1276301-united-states-transthyretin-market-report-2017.html

... for the treatment of Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP) in adult patients with stage 1 symptomatic ... About Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP). Mutations of the transthyretin (TTR) gene can result in the ... Forty years of experience with type 1 amyloid neuropathy: review of 483 cases. In: Glenner GG, e Costa PP, de Freitas AF, eds. ... Vyndaqel(R) (tafamidis) is the first and only medication approved for the treatment of Transthyretin Familial Amyloid ...

https://www.pfizer.com/news/press-release/press-release-detail/pfizer_s_vyndaqel_tafamidis_first_therapy_approved_in_the_european_union_for_the_rare_and_fatal_neurodegenerative_disease_transthyretin_familial_amyloid_polyneuropathy_ttr_fap

The familial amyloid neuropathies (or familial amyloidotic neuropathies, neuropathic heredofamilial amyloidosis, familial amyloid polyneuropathy) are a rare group of autosomal dominant diseases wherein the autonomic nervous system and/or other nerves are compromised by protein aggregation and/or amyloid fibril formation. (wikipedia.org)
Fibrinogen, apolipoprotein A1, and lysozyme are associated with a closely related condition, familial visceral amyloidosis. (wikipedia.org)
Liver transplantation has proven to be effective for ATTR familial amyloidosis due to Val30Met mutation. (wikipedia.org)
Familial amyloid neuropathy 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. (marktforschung.de)
Amyloidosis can affect peripheral sensory, motor or autonomic nerves and deposition of amyloid lead to degeneration and dysfunction in these nerves. (hopkinsmedicine.org)
In cases of familial amyloidosis, genetic testing in the blood may be useful. (hopkinsmedicine.org)
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)
In AL amyloidosis, amyloid protein is derived from immunoglobulin light chains, and most often involves the kidneys and the heart. (nih.gov)
Transthyretin-related familial amyloidotic polyneuropathy (FAP) is a fatal hereditary amyloidosis. (nih.gov)
Frequencies and geographic distributions of genetic mutations in transthyretin- and non-transthyretin-related familial amyloidosis. (medscape.com)
CONCLUSION A diagnosis of amyloidosis type V (familial amyloidosis, Finnish type, FAF/Meretoja syndrome/gelsolin related amyloidosis) was made. (bmj.com)
1-4 Type II LCD is associated with systemic amyloidosis as amyloidosis type V/Meretoja syndrome/familial amyloidosis, Finnish type (FAF)/gelsolin related amyloidosis (OMIM No 105120). (bmj.com)
Familial amyloid polyneuropathy , also called transthyretin-related hereditary amyloidosis , transthyretin amyloidosis abbreviated also as ATTR (hereditary form), or Corino de Andrade's disease , [1] is an autosomal dominant [2] neurodegenerative disease. (wikipedia.org)
Autosomal-dominant transthyretin (TTR)-related amyloidosis usually manifests in the second to over sixth decade with a length-dependent axonal neuropathy with prominent involvement of the small fibers and multi-organ systemic failure. (springer.com)
Background: Gastrointestinal complications are common in hereditary transthyretin amyloid (ATTRm) amyloidosis. (diva-portal.org)
Familial amyloid polyneuropathy (FAP) is a dominant autosomal inherited amyloidosis secondary to the systemic deposition of amyloid fibrils mainly comprised by amyloidogenic transthyretin (ATTR) variants (1,2). (siicsalud.com)
53 The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including corneal lattice dystrophy, and cranial neuropathy, bulbar signs, and skin changes. (malacards.org)
Amyloidosis, Finnish Type, also known as finnish type amyloidosis , is related to amyloidosis, familial visceral and hereditary amyloidosis , and has symptoms including renal insufficiency , cardiomyopathy and nephrotic syndrome . (malacards.org)
71 Amyloidosis 5: A hereditary generalized amyloidosis due to gelsolin amyloid deposition. (malacards.org)
Transthyretin (TTR) amyloidosis is a rare disorder in which the TTR protein forms amyloid fibrils that accumulate in peripheral nerves, the heart, and other organs throughout the body. (alzforum.org)
For example, light-chain amyloidosis is "AL" ("A" for amyloid and "L" for light chain). (acc.org)
Transthyretin amyloidosis is "ATTR" ("A" for amyloid and "TTR" for transthyretin). (acc.org)
Terms such as "primary amyloidosis," "secondary amyloidosis," "senile amyloidosis," and "familial amyloid cardiomyopathy" often lead to confusion and should generally be avoided. (acc.org)
PNP caused by AL-amyloidosis there are also hereditary amyloidotic neuropathies. (centerwatch.com)
Report covers products from therapy areas Metabolic Disorders, Central Nervous System and Cardiovascular which include indications Familial Amyloid Neuropathies, Amyloidosis, Amyloid Cardiomyopathy, Familial Amyloid Cardiomyopathy, Alzheimer's Disease, Cardiomyopathy and Neuropathy. (reportsnreports.com)
Hereditary (also called familial) transthyretin amyloidosis is a rare disease due to an anomaly (mutation) of part of your DNA (gene). (amyloidosisalliance.org)
TTR amyloidosis mainly affects the nerves (neuropathy), the heart, but also, more rarely, the eyes and the kidneys. (amyloidosisalliance.org)
A PubMed search using the terms 'inotersen,' 'AG10,' 'antisense oligonucleotide,' 'hereditary transthyretin amyloidosis,' 'familial amyloid polyneuropathy,' and 'familial amyloid cardiomyopathy' was performed, and the results were screened for the most relevant English language publications. (elsevier.com)
Autonomic description in patients with very early TTR amyloidosis (Familial Amyloid Polyneuropathy). (neurology.org)
Thirty-three patients were selected from a cohort of patients with TTR amyloidosis that fulfilled the diagnostic criteria: a positive amyloid mutation, stage 0 or I in Coutinho's classification, and abnormal neurophysiologic or cardiologic tests that would show initiation of the disease. (neurology.org)
The differential diagnosis should include diabetic neuropathy, chronic inflammatory demyelinating polyneuropathy (see this term), and light chain (AL), gelsolin and apolipoprotein A1 amyloidosis (see these terms). (pharmaceuticalintelligence.com)
The systemic amyloidosis types are all very different from each other with respect to the biochemical nature of the amyloid deposit. (bu.edu)
The amyloid fibrils in this type of amyloidosis are made up of immunoglobulin light chain proteins (kappa or lambda). (bu.edu)
Secondary amyloidosis is caused by a chronic infection or an inflammatory disease such as rheumatoid arthritis, familial Mediterranean fever, osteomyelitis, or granulomatous ileitis. (bu.edu)
The abnormal TTR protein deposits as amyloid fibrils: thus, it is termed ATTR amyloidosis. (bu.edu)
Amyloid deposition in inflammatory syndromes is amplified by the underlying inflammatory state, significantly increasing morbidity and mortality, especially in the case of renal amyloidosis. (medscape.com)
In a pathology review of 124 patients undergoing carpal tunnel release without a previous diagnosis or clinical signs of amyloidosis, 82% had amyloid deposition. (medscape.com)
At 10-year follow-up, only 2 patients had systemic amyloidosis diagnosed after amyloid was discovered in their tenosynovium. (medscape.com)
In our body, the metabolic inborn error , Familial Amyloidosis , a familial pattern of the amyloidosis , is a dis-ease processes of an abnormal protein folding and amyloid deposits. (wellnessadvocate.com)
Kishida D, Okuda Y, Onishi M, Takebayashi M, Matoba K, Jouyama K. Successful tocilizumab treatment in a patient with adult-onset Still's disease complicated by chronic active hepatitis B and amyloid A amyloidosis. (medscape.com)
There are several forms of hereditary amyloidosis associated with peripheral neuropathy. (thefreedictionary.com)
Hereditary amyloidosis (e.g., amyloidosis in AA, AF familial Mediterranean fever) ii. (thefreedictionary.com)
Systemic amyloidosis can be further divided either by precursor proteins (of which 25 precursor proteins have been currently identified) or by the older classification into hereditary amyloidosis (including familial Mediterranean fever (AA, AF)), primary (idiopathic) systemic amyloidosis (AL) and secondary (reactive) systemic amyloidosis (AA) as a reaction to an underlying inflammatory condition. (thefreedictionary.com)

TTR gene mutations lead to decreased stability of the TTR tetramer, resulting in misfolded proteins that form amyloid fibrils and subsequent extracellular deposition of amyloid in several tissues (from peripheral and autonomic nerves to myocardium and intestine). (neurology.org)
Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid neuropathy is a rare group of autosomal dominant diseases caused by the deposition of protein and/or amyloid fibrils around the peripheral nerves and in various tissues, including the heart muscle. (researchandmarkets.com)
Mutations of the transthyretin (TTR) gene can result in the production of unstable TTR proteins which can accumulate as amyloid fibrils. (pfizer.com)
Amyloid fibrils can deposit in a variety of organs including the nerves, heart and kidneys, interfering with normal function. (pfizer.com)
The tetramer has to dissociate into misfolded monomers to aggregate into a variety of structures including amyloid fibrils. (wikipedia.org)
Albany, NY -- ( SBWIRE ) -- 06/22/2018 -- Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid neuropathy is a genetic disorder caused by the deposition of insoluble amyloid fibrils around the peripheral nerves and in various tissues, including the heart muscle. (sbwire.com)
Subsequently, it was learned that amyloid deposits contain extremely insoluble protein fibrils that share similar morphological features (80- to 150-Å fibrils) but comprise many different proteins with no obvious sequence similarity. (pnas.org)
Amyloid isolated from AD brain tissue consists predominantly of a family of polypeptides designated Aβ to indicate their source (amyloid plaque) and their secondary structure within the plaque-derived fibrils (β-sheet). (pnas.org)
Specifically, supersaturated solution of amyloid peptides were metastable, but immediate fibril formation could be "seeded" by addition of a small amount of preformed amyloid fibrils comprising the identical peptide ( 3 ). (pnas.org)
Infection or inflammation causes elevation of an acute phase protein, SAA, a portion of which (AA protein) deposits as amyloid fibrils. (bu.edu)
[ 86 ] Whether causal or just associated, various autoimmune diseases can also predispose to the deposition of amyloid fibrils. (medscape.com)
Synovial fluid may contain amyloid fibrils, although it is not particularly inflammatory, with white blood cell counts on average less than 2000 cells/µL. (medscape.com)
Fandrich M, Meinhardt J, Grigorieff N. Structural polymorphism of Alzheimer Abeta and other amyloid fibrils. (medscape.com)
Fandrich M. On the structural definition of amyloid fibrils and other polypeptide aggregates. (medscape.com)

Symptoms for the disorder include limb weakness, and loss of sensation in case of peripheral neuropathy, bowel disturbance and sexual dysfunction in case of autonomic neuropathy. (researchandmarkets.com)
In addition to the acquired causes, inherited disorders like hereditary sensory-autonomic neuropathy (HSAN), familial amyloid polyneuropathy (FAP), Tangier disease, and Fabry disease also exist. (medscape.com)
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an autonomic neuropathy primarily affecting small fibres and it occurs in adult patients in their second or third decades of life. (elsevier.es)
Transthyretin (TTR) related Familial Amyloid Polyneuropathy presents as a severe sensory, motor and autonomic neuropathy. (biomedcentral.com)
Diabetic autonomic neuropathy affects each tissue, organ and system in the whole body and is strongly involved in the development of foot ulceration. (scielo.org.za)
Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. (pharmaceuticalintelligence.com)
hereditary sensory and autonomic neuropathy (HSAN) any of several inherited neuropathies that involve slow ascendance of lesions of the sensory nerves, resulting in pain, distal trophic ulcers, and a variety of autonomic disturbances. (thefreedictionary.com)

hereditary motor and sensory neuropathy (HMSN) any of a group of hereditary polyneuropathies involving muscle weakness, atrophy, sensory deficits, and vasomotor changes in the lower limbs. (thefreedictionary.com)
Reduced amplitude of the ulnar motor nerve and the sural nerve action potentials may be specific to transthyretin familial amyloid polyneuropathies (TTR-FAPs), allowing us to distinguish this disorder from other demyelinating polyneuropathies (ie, chronic inflammatory demyelinating polyneuropathy and polyneuropathy , organomegaly, endocrinopathy, monoclonal protein, and skin changes [POEMS]), according to a study published in Neurology . (neurologyadvisor.com)

Diagnosis is based on clinical presentation, amyloid deposition on tissue biopsy, and the diagnostic hallmark TTR mutation on genetic testing. (neurology.org)
Diagnosis of amyloid neuropathies is based on history, clinical examination and supporting laboratory investigations. (hopkinsmedicine.org)
Early diagnosis is pivotal for effective therapeutic options, but it is hampered by the heterogeneity of the clinical spectrum which can lead to misdiagnosis with other neurological condition/disorder such as axonal sensory-motor neuropathy (CMT2) as described in literature. (springer.com)
Small fiber neuropathy is associated with increased cardiovascular morbidity and mortality, therefore early diagnosis and continued assessment of disease progression is important ( 1 , 2 ). (frontiersin.org)
While the diagnosis of the amyloidotic neuropathy can be conducted histologically, a molecular genetic approach is necessary to diagnose TTR-FAP. (centerwatch.com)
Detection of amyloid-associated TTR mutations is required for diagnosis. (pharmaceuticalintelligence.com)
Clinical observation and tissue biopsy (from the nerve or kidney, labial salivary glands, subcutaneous fat tissue or rectal mucosa) are required for a definitive diagnosis: amyloid deposits are characterized by Congo red staining on light microscopy and green birefringence on polarized light microscopy. (pharmaceuticalintelligence.com)
It is very important to define the amyloid type immediately when the diagnosis is made as treatments are different. (bu.edu)
D]istinctive features of dFAPs [identified in this study] could be used as red flags by physicians to prompt [transthyretin] genetic testing, enabling earlier diagnosis of FAP and initiation of specific treatments, thus improving the clinical course of the neuropathy and patient survival," concluded the investigators. (neurologyadvisor.com)

Where sensory symptoms are present with few clinical signs, the classical features of a lower motor neurone disorder may be absent and a transverse myelitis, myelopathy, or other central nervous system disorder can masquerade as a neuropathy. (bmj.com)
A common co-occurrence, particularly in the elderly, is the combined presence of cervical spondylotic myelopathy and late onset predominantly sensory axonal neuropathy. (bmj.com)
The typical symptoms of amyloid neuropathy are due to sensory and autonomic dysfunction. (hopkinsmedicine.org)
The aim of our study was to search for TTR mutations in a large cohort of selected undiagnosed axonal sensory-motor neuropathy patients to establish if misdiagnosis is frequent or rare in the Italian population. (springer.com)
The aim of our study was to search for TTR mutations in a large cohort of selected undiagnosed axonal sensory-motor neuropathy patients, classified as CMT2, to establish if CMT could occasionally mimic TTR-FAP. (springer.com)
Painful burning feet is caused by a sensory neuropathy with small fiber involvement in more than 90% of cases. (medscape.com)
Elderly patients who lack sural sensory responses can still be diagnosed with small fiber neuropathy. (medscape.com)
We herein examined 612 index patients with either a Charcot-Marie-Tooth phenotype, hereditary sensory neuropathy, familial amyloid neuropathy, or small fiber neuropathy using a customized multigene panel based on the next generation sequencing technique. (uzh.ch)
Diabetes mellitus Tabes dorsalis (neuropathy caused by syphilis Hansen's Disease (Leprosy) Tumors from the spinal cord Degenerative change of the spinal cord or peripheral nerve Amyloid Familial-hereditary neuropathies including Charcot-Marie Toothe Disease, Hereditary sensory neuropathy and Dejerine-Sottas Condition Pernicious Anemia. (omex3.com)
Our results suggest that urinary liver-type fatty acid binding protein, quantitative sensory testing(QST), serum or urinary Glycer-glyceraldehyde-derived advanced glycation end product (Glycer-AGEs), small-fiber pain threshold values, and amount of the deposition of alpha-synuclein in peripheral nerves are the most useful methods to diagnose the aging-related peripheral neuropathy. (nii.ac.jp)
Denny-Brown's sensory neuropathy hereditary sensory radicular neuropathy . (thefreedictionary.com)
diabetic neuropathy a complication of diabetes mellitus consisting of chronic symmetrical sensory polyneuropathy affecting first the nerves of the lower limbs and often affecting autonomic nerves. (thefreedictionary.com)
Types include hereditary sensory radicular neuropathy and familial dysautonomia . (thefreedictionary.com)
Called also hereditary sensory neuropathy and Denny-Brown's sensory neuropathy or syndrome . (thefreedictionary.com)
serum neuropathy a neurologic disorder, usually involving the cervical nerves or brachial plexus, occurring two to eight days after the injection of foreign protein, as in immunization or serotherapy for tetanus, diphtheria, or scarlet fever, and characterized by local pain followed by sensory disturbances and paralysis. (thefreedictionary.com)

Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant progressive disorder characterized by a length-dependent sensorimotor polyneuropathy with variable autonomic dysfunction and extraneurologic multisystemic manifestations (including gastrointestinal dysfunction, cardiomyopathy, nephropathy, and ocular and leptomeningeal involvement) resulting from focal deposits of amyloid. (neurology.org)
Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure. (malacards.org)
Patients suffer progressive neuropathy, lose their ability to move (referred to as FAP when those are the primary symptoms) and can develop cardiac myopathy (called familial amyloid cardiomyopathy or FAC when cardiac symptoms predominate). (alzforum.org)
Amyloid heart disease mimicking hypertrophic cardiomyopathy. (diva-portal.org)
Hypertrophic cardiomyopathy (HCM) is a heterogeneous, often familial disease, characterized by cardiac hypertrophy, predominantly affecting the interventricular septum. (diva-portal.org)
Symptoms of disease are usually neuropathy and cardiomyopathy and occur in mid to late life. (bu.edu)

Globally, development of new drugs for treatment of familial amyloid polyneuropathy, and rise in the prevalence of familial amyloid polyneuropathy are the prime growth drivers of global familial amyloid polyneuropathy market. (researchandmarkets.com)
But with long waiting periods for liver transplants, there is a need for effective treatment of familial amyloid polyneuropathy. (sbwire.com)

The Norfolk QoL-DN questionnaire is a standardized 35-item patient-reported outcomes measure that is sensitive to the different features of diabetic neuropathy - small fiber, large fiber, and autonomic nerve function. (clinicaltrials.gov)
Neuropathy impairment score (NIS), the Norfolk Quality of life (QoL) - diabetic neuropathy total score (Norfolk), this last only at baseline, 12 and 24M. (biomedcentral.com)
Co-primary endpoints were changes in baseline scores of the modified Neuropathy Impairment Score +7 (mNIMS+7) and the Norfolk Quality of Life Diabetic Neuropathy questionnaire. (alzforum.org)

Transthyretin (TTR)-related familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant, systemic disease. (springer.com)
First symptoms usually occur from the second to over sixth decade of life with a length-dependent axonal neuropathy with prominent involvement of the small fibers and multi-organ systemic failure. (springer.com)
Journal Article] Changes in pathological and biochemical findings of systemic tissue sites in familial amyloidotic polyneuropathy more than 10 years after liver transplantation. (nii.ac.jp)

On March 6, Ionis reported that dangerously low platelet counts forced five patients out of the company's Phase 3 trial of volanesorsen, an ASO that targets the AOEC-III gene for treatment of familial chylomicronemia syndrome, but claimed that was due to reduced levels of triglycerides. (alzforum.org)
10 Primary vasculitic neuropathy includes Churg-Strauss syndrome, microscopic polyangiitis, classic polyarteritis nodosa and Wegener granulomatosis. (scielo.org.za)
Carpal tunnel syndrome can be the presenting sign of primary or secondary forms of amyloid, as only minimal deposits are required to impair nerve conduction. (medscape.com)
entrapment neuropathy any of a group of neuropathies, such as carpal tunnel syndrome , caused by mechanical pressure on a peripheral nerve. (thefreedictionary.com)

Both patients were confirmed to have transthyretin-related familial amyloid polyneuropathy (TTR-FAP) by genetic testing. (neurology.org)
Familial amyloid polyneuropathy (FAP) is a severe hereditary disease, due to production by the liver of a genetic variant transthyretin (TTR) resulting in tissue amyloid deposits. (biomedcentral.com)
Familial hypercholesterolemia is a frequent genetic disease associated with a high lifetime risk of cardiovascular disease (CVD). (bioportfolio.com)
Familial hypercholesterolemia is a genetic lipoprotein disorder characterized by elevated plasma low-density lipoprotein cholesterol level, (tendinous xanthomas, xanthelasmas, and premature arcus corn. (bioportfolio.com)
Prediction of subtle left ventricular systolic dysfunction in homozygous and heterozygous familial hypercholesterolemia: Genetic analyses and speckle tracking echocardiography study. (bioportfolio.com)
Murakami T, Uchino M, Ando M. Genetic abnormalities and pathogenesis of familial amyloidotic polyneuropathy. (siicsalud.com)
Forty-six patients were recruited for the genetic studies (21 women), 11 familial and 35 sporadic cases. (diva-portal.org)

Mutations in the TTR gene are also common, one of which causes familial amyloid polyneuropathy (FAP), with peripheral polyneuropathy and frequently, cardiac hypertrophy. (diva-portal.org)
Journal Article] Dominant cardiac type of familial amyloidotic polyneuropathy associated with a novel transthyretin variant Thr59Arg. (nii.ac.jp)

Familial Amyloid Polyneuropathy (FAP) is a rare, hereditary disease caused by mutations in the transthyretin (TTR) protein. (clinicaltrials.gov)
In AD and Parkinson's disease as well, rare, early-onset forms have been linked to mutations in the fibril-forming proteins [amyloid β-protein (Aβ, see below) or its precursor, amyloid precursor protein and α-synuclein, respectively]. (pnas.org)

The most common form of the hereditary familial amyloidotic neuropathy (FAP) is the Transthyretin-related FAP, however two other amyloidogenic proteins have been described: Apolipoprotein A-I and Gelsolin. (centerwatch.com)

Studies of the prevalence of neuropathy in the community are rare but suggest a figure of between 2-8%, 1 making peripheral neuropathy at least as common as stroke. (bmj.com)
Despite this high prevalence of neuropathy, it is only a small proportion of patients with neuropathies who are referred for detailed evaluation, principally those individuals with disabling disease, or with none of the obvious risk factors such as diabetes or alcoholism. (bmj.com)
In Portugal and Sweden where Transthyretin Related Familial Amyloid Polyneuropathy (TTR-FAP) is endemic, disease prevalence ranges from 1 in 1.000 to 1 in 10.000 people. (springer.com)
The prevalence of familial amyloid polyneuropathy is very low across the globe. (sbwire.com)

Familial amyloid polyneuropathy (FAP) is a life-threatening disease that can be caused by a mutation in the transthyretin ( TTR ) gene, one of the precursor proteins of amyloid. (neurology.org)
3,4 Vyndaqel is a novel specific transthyretin stabilizer designed to prevent the formation of these misfolded proteins and the subsequent amyloid deposits that induce neurodegeneration and decline of neurologic function. (pfizer.com)
Currently over 30 different proteins are found to cause amyloid deposition. (sbwire.com)

Some familial subtypes demonstrate an autosomal dominant pattern of inheritance. (ucdenver.edu)

Depending on the type of amyloid protein, patients may benefit from liver or bone marrow transplant. (hopkinsmedicine.org)
The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation. (medscape.com)
Common extracardiac sites of involvement and associated manifestations include the kidneys (albuminuria and potential renal failure), liver (elevations in alkaline phosphatase and potential hepatic failure), gastrointestinal (GI) tract (dysphagia, constipation, malabsorption, and GI bleeding), tongue (macroglossia), and nerves (peripheral neuropathy and autonomic dysfunction). (acc.org)
Symptoms can occur in any organ of the body and include heart failure, protein in the urine or kidney failure, enlarged liver, neuropathy or enlarged tongue. (bu.edu)
BACKGROUND: The electrophysiological long-term effects of liver transplantation on peripheral nerve function in patients with familial amyloid polyneuropathy (FAP) have not been evaluated. (springernature.com)
CONCLUSIONS: Liver transplantation can halt the progression of peripheral neuropathy in FAP patients. (springernature.com)
nCONCLUSIONS: Liver transplantation can halt the progression of peripheral neuropathy in FAP patients. (springernature.com)

Global Markets Direct's latest Pharmaceutical and Healthcare disease pipeline guide Familial Amyloid Neuropathies - Pipeline Review, H2 2016, provides an overview of the Familial Amyloid Neuropathies (Metabolic Disorders) pipeline landscape. (marktforschung.de)
Global Markets Direct's Pharmaceutical and Healthcare latest pipeline guide Familial Amyloid Neuropathies - Pipeline Review, H2 2016, provides comprehensive information on the therapeutics under development for Familial Amyloid Neuropathies (Metabolic Disorders), complete with analysis by stage of development, drug target, mechanism of action (MoA), route of administration (RoA) and molecule type. (marktforschung.de)
The Familial Amyloid Neuropathies (Metabolic Disorders) pipeline guide also reviews of key players involved in therapeutic development for Familial Amyloid Neuropathies and features dormant and discontinued projects. (marktforschung.de)
Familial Amyloid Neuropathies (Metabolic Disorders) pipeline guide helps in identifying and tracking emerging players in the market and their portfolios, enhances decision making capabilities and helps to create effective counter strategies to gain competitive advantage. (marktforschung.de)
The pipeline guide provides a snapshot of the global therapeutic landscape of Familial Amyloid Neuropathies (Metabolic Disorders). (marktforschung.de)
The pipeline guide reviews pipeline therapeutics for Familial Amyloid Neuropathies (Metabolic Disorders) by companies and universities/research institutes based on information derived from company and industry-specific sources. (marktforschung.de)
The pipeline guide reviews key companies involved in Familial Amyloid Neuropathies (Metabolic Disorders) therapeutics and enlists all their major and minor projects. (marktforschung.de)
The pipeline guide evaluates Familial Amyloid Neuropathies (Metabolic Disorders) therapeutics based on mechanism of action (MoA), drug target, route of administration (RoA) and molecule type. (marktforschung.de)
Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. (chemwatch.net)
The term peripheral neuropathy encompasses a wide range of disorders in which the nerves outside of the brain and spinal cord - peripheral nerves - have been damaged. (encyclopedia.com)
For example, peripheral neuropathy is only one symptom of diseases such as amyloid neuropathy, certain cancers, or inherited neurologic disorders. (encyclopedia.com)
Indeed, abnormal protein aggregation characterizes many, if not all, neurodegenerative disorders, not just AD and Parkinson's disease, but also Creutzfeldt-Jakob disease, motor neuron diseases, the large group of polyglutamine disorders, including Huntington's disease ( 1 ), as well as diseases of peripheral tissue like familial amyloid polyneuropathy (FAP). (pnas.org)

Amyloid and Alzheimer's disease: inside and out. (medscape.com)

The assessment and investigation of a possible neuropathy is one of the most common clinical problems facing the general neurologist. (bmj.com)
Clinical suspicion for FAP is raised on the basis of a family history of neuropathy and physical exam showing signs of neuropathy . (wikipedia.org)
We examined the DNA analysis of familial amyloid polyneuropathy (FAP) patients and their families from Nagano and Hiroshima prefectures in Japan using recombinant DNA techniques and compared the results with the clinical features. (elsevier.com)
This study consisted of a retrospective analysis of clinical and electrophysiologic features of 194 patients with familial amyloid polyneuropathy. (neurologyadvisor.com)

Neuropathic pain due to amyloid neuropathy can be treated with anti-seizure medications, antidepressants, or analgesics including opiate drugs. (hopkinsmedicine.org)

Aside from acquired amyloidotic neuropathies (e.g. (centerwatch.com)
More recent studies provided evidence for the presence of hereditary amyloidotic neuropathies amongst the German population and that they are currently underdiagnosed. (centerwatch.com)

This neurogenic flare response is a measure of C-fiber functional integrity and therefore shows impairment in patients with small fiber neuropathy. (frontiersin.org)
In small fiber neuropathy, small somatic fibers and/or autonomic fibers are affected. (frontiersin.org)
Assessment of cutaneous vasomotor function is a promising way to diagnose and monitor small fiber neuropathy. (frontiersin.org)
A parallel focus in this laboratory is to use the previously described technique to diagnose human neuropathies involving small-diameter nociceptive nerves (small-fiber neuropathy). (ntu.edu.tw)

Involvement of cranial nerves (for example, facial numbness or weakness, oculomotor disturbance) in an acute inflammatory neuropathy is helpful in excluding a cord lesion with a pseudo-lower motor neurone pattern of presentation, as may occur in acute myelopathies. (bmj.com)
Few peripheral neuropathies are associated with pure or predominantly small fiber involvement. (medscape.com)
AL amyloid deposits can occur in virtually any organ, and the pattern of organ involvement varies from patient to patient (Table 1). (acc.org)

Certain neuropathies co-exist with CNS disease, such as vitamin B12 deficiency, adrenomyeloneuropathy, neuroacanthocytosis, spinocerebellar syndromes, to name but a few of many. (bmj.com)
Predicting cardiovascular disease in familial hypercholesterolemia. (bioportfolio.com)
Estimated costs of hospitalization due to coronary artery disease attributable to familial hypercholesterolemia in the Brazilian public health system. (bioportfolio.com)
A few studies examined association between familial hypercholesterolemia (FH) and atherosclerotic cardiovascular disease (ASCVD) in Asians with low levels of serum cholesterol. (bioportfolio.com)
The NEURO-TTR trial is testing the antisense oligonucleotide therapy IONIS-TTR Rx in people with familial amyloid neuropathy (FAP), a fatal disease caused by aggregation of the transthyretin protein. (alzforum.org)
The most common of the inherited peripheral neuropathies in the United States is Charcot-Marie-Tooth disease, which affects approximately 125,000 persons. (encyclopedia.com)
Peripheral neuropathy may develop as a primary symptom, or it may be due to another disease. (encyclopedia.com)
Expert opinion: Inotersen targets the disease-forming protein, TTR, and has been shown to improve quality of life and neuropathy progression in patients with stage 1 or 2 ATTRv with polyneuropathy. (elsevier.com)
Medical or surgical treatment of the underlying chronic infection or inflammatory disease can slow down or stop the progression of this type of amyloid. (bu.edu)
Some diseases in this group have been numbered: types I and II are varieties of Charcot-Marie-Tooth disease and type III is progressive hypertrophic neuropathy . (thefreedictionary.com)
progressive hypertrophic neuropathy a slowly progressive familial disease beginning in early life, marked by hyperplasia of interstitial connective tissue, causing thickening of peripheral nerve trunks and posterior roots, and by sclerosis of the posterior columns of the spinal cord, with atrophy of distal parts of the legs and diminution of tendon reflexes and sensation. (thefreedictionary.com)

An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. (bioportfolio.com)
Familial amyloid polyneuropathy has an autosomal dominant pattern of inheritance. (wikipedia.org)

an illness where a protein called amyloid is deposited in tissues and organs. (hopkinsmedicine.org)

In the case of wild-type ATTR, the transthyretin protein is the normal (nonmutated) protein, and over a period of decades gradually deposits as amyloid deposits. (acc.org)

Patients with familial amyloid polyneuropathy are born with a mutation in the TTR gene which leads to the disorder. (sbwire.com)

We identified 2 unrelated patients with atypical features of tongue atrophy and fasciculations in the setting of a severe neuropathy. (neurology.org)
Medical records were reviewed from patients suspected of having amyloid polyneuropathy seen in the Neuromuscular Clinic at the University of California, Irvine, between 2010 and 2015. (neurology.org)
This is an open-label, single-arm study to assess the reduction of low-density lipoprotein cholesterol (LDL-C) by REGN1500 in patients with homozygous familial hypercholesterolemia (HoFH). (bioportfolio.com)
Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy. (medscape.com)
BUSINESS WIRE )--Pfizer announced today that the European Commission has approved Vyndaqel ® (tafamidis) for the treatment of Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP) in adult patients with stage 1 symptomatic polyneuropathy. (pfizer.com)
Some patients may develop peripheral neuropathy and renal failure. (malacards.org)
Tafamidis, an oral drug that stabilizes TTR preventing amyloid deposition, was recently introduced in Europe to delay neuropathy progression in ambulatory patients. (biomedcentral.com)
Ultimately, many patients die from waning organ functions, including renal failure due to amyloid accumulation in the kidneys, he told Alzforum. (alzforum.org)
In 2014, GlaxoSmithKline paid U.S. based Isis Pharmaceuticals USD 1 million for the advancement of the Phase III study of ISIS-TTRRx in patients with familial amyloid polyneuropathy. (sbwire.com)
Even at a very early stage of somatic neuropathy the patients showed important alterations in all autonomic tests. (neurology.org)
[ 87 ] However, autopsy study shows that amyloid arthropathy in RA is often undiagnosed in patients with long-standing severe RA. (medscape.com)
The Query Amyloid Late Enhancement (QALE) score, myocardial native T2, T1 and extra cellular volume fraction (ECV) were calculated for all patients. (cepia.team)

The aggregation of one precursor protein leads to peripheral neuropathy and/or autonomic nervous system dysfunction. (wikipedia.org)
The importance of the Aβ42 form was confirmed by the finding that selective elevation of Aβ42 level occurs in all three early-onset FAD genes identified to date: amyloid precursor protein, presenilin-1, and presenilin-2 ( 4 ). (pnas.org)
Single strand conformation polymorphism analysis and direct DNA sequencing revealed a variant AGC (serine) codon at amino acid position 84 of the amyloid precursor protein, transthyretin (TTR). (elsevier.com)

It is typically characterized by cranial neuropathy and lattice corneal dystrophy. (malacards.org)

Its four components are dislocated and deposited in the form of a toxic amyloid substance in the tissues and organs, thus altering their functions. (amyloidosisalliance.org)
Amyloid deposits are made of the beta-2 microglobulin protein that accumulated in tissues, particularly around joints, when it cannot be excreted by the kidney because of renal failure. (bu.edu)

Hereditary neuropathies comprise a wide variety of chronic diseases associated to more than 80 genes identified to date. (uzh.ch)
Other well-known causes of peripheral neuropathies include chronic alcoholism, infection of the varicella-zoster virus, botulism, and poliomyelitis. (encyclopedia.com)

Saraiva MJ, Birken S, Costa PP. Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. (medscape.com)

Most peripheral neuropathies affect all fiber sizes. (medscape.com)
Electromyography (EMG) plays a key role in the evaluation of most peripheral neuropathies and helps in assessing only large myelinated fibers. (medscape.com)

Diabetes mellitus is the most common metabolic neuropathy. (scielo.org.za)
Other metabolic neuropathies to consider are alcoholic and uraemic neuropathies. (scielo.org.za)

In the same context, spondylotic radiculopathies may co-occur with upper limb entrapment neuropathies. (bmj.com)

Anatomy1

Organisms1

Diseases13

Chemicals and Drugs12

Analytical, Diagnostic and Therapeutic Techniques and Equipment3

Psychiatry and Psychology2

Phenomena and Processes1

Disciplines and Occupations2

Anthropology, Education, Sociology and Social Phenomena3

Humanities1

Information Science3

Named Groups3

Health Care3

Geographicals1

Capture of a dimeric intermediate during transthyretin amyloid formation. (1/93)

Deposition of transthyretin in early stages of familial amyloidotic polyneuropathy: evidence for toxicity of nonfibrillar aggregates. (2/93)

Myocardial muscarinic receptor upregulation and normal response to isoproterenol in denervated hearts by familial amyloid polyneuropathy. (3/93)

Results of liver transplantation for familial amyloid polyneuropathy type I in Brazil. (4/93)

Long-term follow-up of survival of liver transplant recipients with familial amyloid polyneuropathy (Portuguese type). (5/93)

Effect of the intestinal flora on amyloid deposition in a transgenic mouse model of familial amyloidotic polyneuropathy. (6/93)

Evidence for early cytotoxic aggregates in transgenic mice for human transthyretin Leu55Pro. (7/93)

Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy. (8/93)

Amyloid Neuropathies

Amyloid Neuropathies, Familial

Prealbumin

Amyloidosis

Amyloid

Diabetic Neuropathies

Amyloid beta-Peptides

Serum Amyloid A Protein

Peripheral Nervous System Diseases

Amyloid beta-Protein Precursor

Plaque, Amyloid

Hereditary Sensory and Motor Neuropathy

Islet Amyloid Polypeptide

Cerebral Amyloid Angiopathy

Hereditary Sensory and Autonomic Neuropathies

Optic Neuropathy, Ischemic

Serum Amyloid P-Component

Polyneuropathies

Sural Nerve

Amyloid Precursor Protein Secretases

Alzheimer Disease

Public Health

Diflunisal

Liver Transplantation

Complicity

Erotica

Oligonucleotides

RNA

Molecular Sequence Data

Base Sequence

Oligonucleotides, Antisense

Mass Spectrometry

Sweden

Faculty, Medical

Faculty

Tandem Mass Spectrometry

Paraphilias

Faculty, Dental

Amyloidosis, Familial

Histology, Comparative

Cryptococcus gattii

Capture of a dimeric intermediate during transthyretin amyloid formation. (1/93)

Deposition of transthyretin in early stages of familial amyloidotic polyneuropathy: evidence for toxicity of nonfibrillar aggregates. (2/93)

Myocardial muscarinic receptor upregulation and normal response to isoproterenol in denervated hearts by familial amyloid polyneuropathy. (3/93)

Results of liver transplantation for familial amyloid polyneuropathy type I in Brazil. (4/93)

Long-term follow-up of survival of liver transplant recipients with familial amyloid polyneuropathy (Portuguese type). (5/93)

Effect of the intestinal flora on amyloid deposition in a transgenic mouse model of familial amyloidotic polyneuropathy. (6/93)

Evidence for early cytotoxic aggregates in transgenic mice for human transthyretin Leu55Pro. (7/93)

Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy. (8/93)

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Nerves and neuropathy

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