|Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.|
|PMID: 18484239 Owner: NLM Status: MEDLINE|
|Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder first described among French Canadians in Quebec. To date, 24 mutations have been reported in the SACS gene of ARSACS patients. The authors report a clinical and genetic analysis of a Japanese family with ARSACS with novel compound heterozygous mutations in the SACS gene (N161fsX175, L802P). The phenotype is similar to that of previously reported ARSACS patients.|
|S Kamada; S Okawa; T Imota; M Sugawara; I Toyoshima|
Related Documents :
|20035629 - Prnp variation in uk sporadic and variant creutzfeldt jakob disease highlights genetic ...
19822779 - Codistribution of amyloid beta plaques and spongiform degeneration in familial creutzfe...
16674609 - Polymorphism of prnp codons in the normal icelandic population.
16230019 - Levels of mutant huntingtin influence the phenotypic severity of huntington disease in ...
15722549 - Polymorphisms at codons 108 and 189 in murine prp play distinct roles in the control of...
21722899 - A polymorphism in the abcg1 promoter is functionally associated with coronary artery di...
15043529 - Activated protein c resistance in anterior ischaemic optic neuropathy.
18551009 - Glutathione s-transferase variants and hypertension.
7904129 - Characterization of anopheles pseudopunctipennis sensu lato from three countries of neo...
|Type: Case Reports; Journal Article Date: 2008-05-19|
|Title: Journal of neurology Volume: 255 ISSN: 0340-5354 ISO Abbreviation: J. Neurol. Publication Date: 2008 Jun|
|Created Date: 2008-08-20 Completed Date: 2008-10-21 Revised Date: -|
Medline Journal Info:
|Nlm Unique ID: 0423161 Medline TA: J Neurol Country: Germany|
|Languages: eng Pagination: 803-6 Citation Subset: IM|
|Dept. of Neurology, Akita University School of Medicine, 1-1-1, Hondo, Akita 010-8543, Japan.|
|APA/MLA Format Download EndNote Download BibTex|
Base Sequence / genetics
Cerebellar Ataxia / genetics*, pathology, physiopathology
Cerebellum / pathology, physiopathology
Chromosome Disorders / genetics*
Chromosomes, Human, Pair 13 / genetics
DNA Mutational Analysis
Exons / genetics
Genes, Recessive / genetics*
Genetic Markers / genetics
Genetic Predisposition to Disease / ethnology, genetics*
Heat-Shock Proteins / genetics*
Magnetic Resonance Imaging
Muscle Spasticity / genetics, pathology, physiopathology
Mutation / genetics*
Spinal Cord / pathology, physiopathology
|0/Genetic Markers; 0/Heat-Shock Proteins; 0/SACS protein, human|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Interpretation of electrodiagnostic findings in sporadic progressive muscular atrophy.
Next Document: Phagocytosis of co-developing neutrophil progenitors by dendritic cells in a culture of human CD34(+...