Document Detail

Identification of a SACS gene missense mutation in ARSACS.
MedLine Citation:
PMID:  14718708     Owner:  NLM     Status:  MEDLINE    
The authors describe two patients in a Japanese family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. They presented early onset spastic ataxia, sensorimotor neuropathy, nystagmus, slurred speech, and hypermyelinated retinal nerve fibers. The authors identified a homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R).
T Ogawa; Y Takiyama; K Sakoe; K Mori; M Namekawa; H Shimazaki; I Nakano; M Nishizawa
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neurology     Volume:  62     ISSN:  1526-632X     ISO Abbreviation:  Neurology     Publication Date:  2004 Jan 
Date Detail:
Created Date:  2004-01-13     Completed Date:  2004-03-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  107-9     Citation Subset:  AIM; IM    
Department of Neurology, Jichi Medical School, Tochigi, Japan.
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MeSH Terms
Ataxia / complications,  diagnosis,  genetics*
Cerebellum / pathology
DNA Mutational Analysis
Dysarthria / diagnosis,  etiology,  genetics
Gait Disorders, Neurologic / diagnosis,  etiology,  genetics
Genes, Recessive
Heat-Shock Proteins / genetics*
Magnetic Resonance Imaging
Muscle Spasticity / complications,  diagnosis,  genetics*
Mutation, Missense*
Nerve Fibers, Myelinated / pathology
Neural Conduction
Neuropsychological Tests
Retina / pathology
Sural Nerve / pathology,  physiopathology
Reg. No./Substance:
0/Heat-Shock Proteins; 0/SACS protein, human
Comment In:
Neurology. 2004 Jan 13;62(1):10-1   [PMID:  14718687 ]

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