| Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene. | |
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MedLine Citation:
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PMID: 18484239 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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S Kamada; S Okawa; T Imota; M Sugawara; I Toyoshima |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2008-05-19 |
Journal Detail:
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Title: Journal of neurology Volume: 255 ISSN: 0340-5354 ISO Abbreviation: J. Neurol. Publication Date: 2008 Jun |
Date Detail:
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Created Date: 2008-08-20 Completed Date: 2008-10-21 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0423161 Medline TA: J Neurol Country: Germany |
Other Details:
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Languages: eng Pagination: 803-6 Citation Subset: IM |
Affiliation:
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Dept. of Neurology, Akita University School of Medicine, 1-1-1, Hondo, Akita 010-8543, Japan. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Atrophy
/
genetics,
pathology,
physiopathology 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* Heterozygote Humans Japan Magnetic Resonance Imaging Male Middle Aged Muscle Spasticity / genetics, pathology, physiopathology Mutation / genetics* Pedigree Phenotype Spinal Cord / pathology, physiopathology |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers; 0/Heat-Shock Proteins; 0/SACS protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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