Article
Novel SACS mutation in a Belgian family with sacsin-related ataxia.
Journal of the neurological sciences - 15 Jan 2008
Ouyang Y, Segers K, Bouquiaux O, Wang F C, Janin N, Andris C, Shimazaki H, Sakoe K, Nakano I, Takiyama Y
Abstract excerpt
The authors describe the four patients in the first known Belgian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). A novel homozygous missense mutation, NM_014363.3: c.3491T>A in exon 9, of the SACS gene was identified in the present family, which results in an original amino acid of methionine to lysine substitution at amino acid residue 1164 (p.M1164K). Although the cardinal...
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