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*  Acute nervous system degeneration and Gait ataxia - Symptom Checker - check medical symptoms at RightDiagnosis
List of 48 causes for Acute nervous system degeneration and Gait ataxia, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
  http://wrongdiagnosis.com/cosymptoms/acute-nervous-system-degeneration/gait-ataxia.htm
*  Acute peripheral nervous system degeneration and Babinski's reflex and Incomprehensible speech - Symptom Checker - check...
List of 22 causes for Acute peripheral nervous system degeneration and Babinski's reflex and Incomprehensible speech, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
  http://wrongdiagnosis.com/cosymptoms/acute-peripheral-nervous-system-degeneration/babinskis-reflex/incomprehensible-speech.htm
*  Gigaxonin - Wikipedia
Gigaxonin also known as kelch-like protein 16 is a protein that in humans is encoded by the GAN gene. Gigaxonin is a member of the cytoskeletal BTB / kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. (Kelch repeats are predicted to form a beta-propeller shape.) Gigaxonin plays a role in neurofilament architecture and is mutated in giant axonal neuropathy. Giant axonal neuropathy with curly hair GRCh38: Ensembl release 89: ENSG00000261609 - Ensembl, May 2017 GRCm38: Ensembl release 89: ENSMUSG00000052557 - Ensembl, May 2017 "Human PubMed Reference:". "Mouse PubMed Reference:". Flanigan KM, Crawford TO, Griffin JW, Goebel HH, Kohlschutter A, Ranells J, Camfield PR, Ptacek LJ (Feb 1998). "Localization of the giant axonal neuropathy gene to chromosome 16q24". Ann Neurol. 43 (1): 143-8. doi:10.1002/ana.410430126. PMID 9450783. Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tuysuz B, Landrieu P, Hentati F, Koenig M (Dec 2000). ...
  https://en.wikipedia.org/wiki/Gigaxonin
*  Nervous System Degeneration in Glycosphingolipid Storage Disorders - Full Text View - ClinicalTrials.gov
The GM1 and GM2 gangliosidoses are lysosomal storage disorders that primarily affect the brain and are uniformly fatal. No effective therapy for patients with these diseases has yet been demonstrated. Historically, since these disorders are fatal very little natural history information or disease characterization using modern medical techniques has been collected. This information is vital in order to establish the pattern of disease progression and to identify clinical, biochemical and biophysical markers that can be used as endpoints in future therapeutic trials.. This protocol aims to study the natural history of the GM1 and GM2 gangliosidoses in affected individuals of all ages, races and genders using medical technologies including MRI/MRS, hearing evaluation and auditory evoked response testing, and EEG, as well as subspecialty evaluations in rehabilitative medicine, ophthalmology, speech language pathology, neurology, and psychology. Biomarkers of disease progression ...
  https://clinicaltrials.gov/ct2/show/NCT00029965?recr=Open&cond=%22Gaucher+Disease%22&rank=16
*  Nervous System Degeneration in Glycosphingolipid Storage Disorders - Tabular View - ClinicalTrials.gov
The GM1 and GM2 gangliosidoses are lysosomal storage disorders that primarily affect the brain and are uniformly fatal. No effective therapy for patients with these diseases has yet been demonstrated. Historically, since these disorders are fatal very little natural history information or disease characterization using modern medical techniques has been collected. This information is vital in order to establish the pattern of disease progression and to identify clinical, biochemical and biophysical markers that can be used as endpoints in future therapeutic trials.. This protocol aims to study the natural history of the GM1 and GM2 gangliosidoses in affected individuals of all ages, races and genders using medical technologies including MRI/MRS, hearing evaluation and auditory evoked response testing, and EEG, as well as subspecialty evaluations in rehabilitative medicine, ophthalmology, speech language pathology, neurology, and psychology. Biomarkers of disease progression ...
  https://clinicaltrials.gov/ct2/show/record/NCT00029965?view=results
*  What is Giant axonal neuropathy? | Giant axonal neuropathy
Giant axonal neuropathy is an inherited condition characterized by abnormal and dysfunctional axons, which are the specialized extensions of nerve cells that are required for the transmission of nerve impulses.
  http://www.onlymyhealth.com/what-giant-axonal-neuropathy-12977606786
*  Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration. | IRIS Università...
Pantothenate kinase-associated neurodegeneration is a form of neurodegeneration with brain iron accumulation, characterized by a progressive movement disorder and prominent iron deposition in the globus pallidus. Formerly referred to as Hallervorden-Spatz syndrome, the disorder was renamed pantothenate kinase-associated neurodegeneration after discovery of the causative gene, PANK2. Although the pathological features of clinically characterized Hallervorden-Spatz syndrome have been described, the literature is confounded by the historical use of this term for nearly all conditions with prominent basal ganglia iron accumulation and by the fact that this term encompasses a genetically heterogeneous group of disorders, now referred to as 'neurodegeneration with brain iron accumulation'. As a result, interpreting reports that precede molecular characterization of specific forms of neurodegeneration with brain iron accumulation is problematic. In the present studies, we describe ...
  https://usiena-air.unisi.it/handle/11365/32220
*  Trinucleotide Repeats
Mutagenesis is incredibly frequent at trinucleotide repeats in families with certain hereditary neurological diseases. These site-specific expansions, or gains of triplet repeats, occur in cells that appear otherwise normal.. ...
  http://ncbes.nuigalway.ie/research/centre-for-chromosome-biology/trinucleotide-repeats/
*  Trinucleotide repeat disorder - Wikipedia
Trinucleotide repeat expansion, also known as triplet repeat expansion, is the DNA mutation responsible for causing any type of disorder categorized as a trinucleotide repeat disorder. These are labelled in dynamical genetics as dynamic mutations.[12]. Triplet expansion is caused by slippage during DNA replication. Due to the tandem repeats in the DNA sequence and the instability of the sequence in these regions, 'loop out' structures may form during DNA replication while maintaining complementary base pairing between the parent strand and the daughter strand being synthesized. In essence, a nick one side of the DNA strand is caused by cleavage by endonuclease whereby the repetitive triplet is extended and sealed by DNA polymerase and DNA ligase, respectively.[13] If the loop out structure is formed from sequence on the daughter strand this will result in an increase in the number of repeats. However, if the loop out structure is formed on the parent strand, a decrease in the number of ...
  https://en.m.wikipedia.org/wiki/Trinucleotide_repeat_disorder
*  Structural Biochemistry/Enzyme Regulation/Phosphorylation - Wikibooks, open books for an open world
An example of a metabolic disease caused by defective enzymes is Lafora disease. Lafora disease, named after Dr. Gonzalo Lafora, is a metabolic disorder that is caused by defective enzymes that controls phosphorylation. It is a neurodegenerative disease caused by insoluble glucan accumulating in the cytoplasm. Glucan is a type of complex carbohydrate that is made up of glucose linked together by glycosidic bonds. Lafora disease not only causes epilepsy, but also progressive central nervous system degenerations. This ultimately results in the death of the patient. It is thought that the compilation of cytoplasmic lipid bodies (LB) trigger neuronal cell death and seizures.. It is recognized that in almost half of Lafora disease cases, the EPM2A (epilepsy, progressive myoclonus 2A) gene is mutated. The EPM2A gene encodes the bimodular protein called laforin. Laforin is associated with regulating glycogen metabolism. Glycogen stores long-term energy. Furthermore, about 20% if ...
  https://en.wikibooks.org/wiki/Structural_Biochemistry/Enzyme_Regulation/Phosphorylation
*  Primary neurogenic orthostatic hypotension | Journal of Neurology, Neurosurgery & Psychiatry
Eight further cases of neurogenic orthostatic hypotension are described together with a necropsy study on one case. Three cases showed evidence of autonomic dysfunction in isolation, while in five cases this was accompanied by evidence of more diffuse central nervous system degeneration. (Parkinsonism, cerebellar ataxia, dementia, pyramidal signs, bulbar weakness, and muscular wasting were all seen in varying proportions.). The various clinical presentations, investigations, pathology, treatment, and prognosis are discussed. In the experience of the authors, when assessed, an abnormal Valsalva response is invariable, confirming the breakdown of the circulatory reflex. A normal vasopressor response is likewise invariable, eliminating an abnormality of blood vessels themselves, and confirming the lesion as neurogenic. The demonstration of loss of sweating to indirect body heating, which also is usual suggests that the defect is central or on the efferent side of the reflex and ...
  http://jnnp.bmj.com/content/33/3/363
*  UniProtKB/SwissProt variant VAR 030083
Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. {ECO:0000269,PubMed:16960811, ECO:0000269,PubMed:17033958, ECO:0000269,PubMed:17397050, ECO:0000269,PubMed:18024218, ECO:0000269,PubMed:19479962, ECO:0000269,PubMed:19823584, ECO:0000269,PubMed:20583299, ECO:0000269,PubMed:20825431}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
  http://web.expasy.org/variant_pages/VAR_030083.html
*  UniProtKB/SwissProt variant VAR 030085
Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. {ECO:0000269,PubMed:16960811, ECO:0000269,PubMed:17033958, ECO:0000269,PubMed:17397050, ECO:0000269,PubMed:18024218, ECO:0000269,PubMed:19479962, ECO:0000269,PubMed:19823584, ECO:0000269,PubMed:20583299, ECO:0000269,PubMed:20825431}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
  http://web.expasy.org/variant_pages/VAR_030085.html
*  NIOSHTIC-2 Publications Search - 20036823 - Clinical and experimental studies of distal axonopathy -- a frequent form of brain...
This presentation will summarize our clinical and pathological studies of the nervous system degeneration (distal dying-back axonopathy) in man and experimental animals produced by acrylamide monomer and certain hydrocarbon compounds (hexacarbons). 'Distal axonopathy' is a term recently introduced to describe those diseases which are expressed as symmetrical, distal, axonal degeneration occurring
  https://www.cdc.gov/niosh/nioshtic-2/20036823.html
*  The Raw Foods Evolution: Vitamin B12 and the Raw Foods Diet
This nerve system degeneration affects peripheral nerves and the spinal cord. Some of the typical neurological feelings include depression, numbness and tingling in the hands and feet, nervousness, paranoia, hyperactive reflexes, impaired memory and behavioral changes. With a B-12 deficiency, one can also have diarrhea, fever, frequent upper respiratory infections, impotence, infertility, sore tongue, enlargement of the mucous membranes of the mouth, vagina, and stomach, macrocytic anemia, low platelets, increased bleeding, low white blood cell count. Some of the causes of B-12 deficiency are low dietary intake of B-12 and/or poor absorption, which usually comes through loss of intrinsic factor and/or a lack of stomach acid ...
  http://therawdiet.blogspot.com/2006/09/vitamin-b12-and-raw-foods-diet.html
*  Gene Detection Systems Introduction - Gene Link
GenemerTM Products. The GenemerTM product line is PCR based. The product includes a specific primer pair for gene or mutation specific amplification. Genemer products are available for the gene fragment and disorders listed. Specialized optimized conditions may be required for certain triple repeat disorder amplifications. The GenemerTM kit is a complete easy-to-use kit for reliable genotyping of a gene fragment. The product includes a specific primer pair for gene or mutation specific amplification, optimized buffers and dNTPs and in most cases, control DNA. These kits contain specialized and optimized conditions that are required for amplification of large repeats in certain triple repeat disorder amplifications. Gene Link recommends these GenemerTM kits for researchers who have not established their own optimized amplification conditions. GenemerTM kits are also available for conventional radioactive-based detection methods. A Radioactive component is not present in these kits. Gene Link ...
  http://www.genelink.com/gds/GDSintro.asp
*  "Someone Has To Be The First" - Pay It...
Two weeks ago I had the genuine pleasure of meeting Matt and Lori Sames, parents of Hannah Sames, and founders of Hannah's Hope Fund. I thought they were the true definition of "the folks next door", and super nice, down-to-earth people. I knew about their daughter Hannah, and her rare diagnosis with Giant Axonal Neuropathy (GAN). I also knew of their organization, and of their tireless fundraising efforts.. But what I didn't know was just how rare GAN is, or that Hannah's Hope Fund is the only organization in the world raising funds for research, treatment, and most importantly, searching for a cure for GAN.. GAN is decribed as an "orphan" disease. As if the news of their daughter's diagnosis wasn't bad enough, Matt and Lori also learned at the time of the diagnosis that there was no ongoing research, no treatment, no clinical trials, and no support group. Patients don't know where the other patients are, and neurologists practicing over thirty years have never treated patients with this rare ...
  http://blog.timesunion.com/payitforward/someone-has-to-be-the-first/1370/
*  Stuart Cobb
Gray: We are part of one of the best gene therapy centers in the world, with a vector core facility that makes hundreds of research preps and several clinical preps each year. My lab in particular has, as its primary goal, a mission to develop nervous system gene therapy platforms. We've made enormous strides using existing vectors to their full potential, and also leading the way to develop newer and better vectors. Also, our experience bringing our Giant Axonal Neuropathy project to clinical trial gave us experience on the process of moving a biological from the bench to the bedside. Cobb: My own lab brings expertise in the neurobiology side in terms of accurately mapping out Rett syndrome-like features in mice and within the brain and being able to assess in detail the ability for gene therapy to improve aspects of the disorder.. Mandel: I am a basic science lab and I have strengths in applying state of the art molecular tools to questions related to gene ...
  https://rettsyndrome.wordpress.com/tag/stuart-cobb/
*  Janghoo Lim, PhD | Yale School of Medicine
We have identified Nemo-Like Kinase (NLK) as a genetic modifier in the pathogenesis of SCA1 and SBMA and thus as a novel putative therapeutic target for those diseases. By utilizing a variety of experimental approaches, including biochemistry, cell biology, and Drosophila and mouse genetics, we showed that reducing NLK expression lowers the severity of protein toxicity in SCA1 and SBMA. The finding that NLK and its signaling pathway affect the activity of two distinct polyglutamine diseases provide evidence for the occurrence of common pathogenetic mechanisms in this group of neurodegenerative diseases.. Our studies have had an important impact on the understanding of mechanistic aspects of polyglutamine expansion-dependent diseases. However, many questions remain open, such as, for example, how expression of mutant proteins results in cell type-specific neuronal dysfunction and loss. To address these questions, we utilize the combined use of biochemistry, ...
  http://medicine.yale.edu/intranet/facultybydept/janghoo_lim-2.profile
*  TIMM9P2 Gene - GeneCards | TIMM9P2 Pseudogene
Complete information for TIMM9P2 gene (Pseudogene), TIMM9 Pseudogene 2, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=TIMM9P2
*  Recombinant Human Neuroserpin protein (ab63224) | Abcam
Buy our Recombinant Human Neuroserpin protein. Ab63224 is a full length protein produced in Escherichia coli and has been validated in WB, FuncS, SDS-PAGE…
  http://www.abcam.com/recombinant-human-neuroserpin-protein-ab63224.html
*  Neuroserpin Recombinant Protein (Active) | GeneTex
, Neuroserpin Recombinant Protein (Active), GTX48159-PRO, Applications: ELISA, WB, Functional Assay; ELISA, Western Blot (WB), Functional Assay; CrossReactivity: Human
  http://www.genetex.com/Neuroserpin-Recombinant-Protein-Active-GTX48159-PRO.html
*  Neuroserpin blocking peptide | GeneTex
, Neuroserpin blocking peptide, GTX89544-PEP, Applications: Apuri, Blocking, ELISA; Affinity purification, Blocking, ELISA; CrossReactivity: Human|Mouse|Bovine|Rat
  http://www.genetex.com/Neuroserpin-blocking-peptide-GTX89544-PEP.html
*  重组人TREM1蛋白(ab82984)|Abcam中国
购买我们的重组人TREM1蛋白。Ab82984为蛋白片段,在大肠杆菌中生产并经过Western blot实验验证。Abcam提供免费的实验方案,操作技巧及专业的支持。中国80%以上现货。
  http://www.abcam.cn/recombinant-human-trem1-protein-ab82984.html