Novel SACS mutation in a Belgian family with sacsin-related ataxia

Abstract 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 result...

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Published inJournal of the neurological sciences Vol. 264; no. 1; pp. 73 - 76
Main Authors Ouyang, Y, Segers, K, Bouquiaux, O, Wang, F.C, Janin, N, Andris, C, Shimazaki, H, Sakoe, K, Nakano, I, Takiyama, Y
Format Journal Article Web Resource
LanguageEnglish
Published Shannon Elsevier B.V 15.01.2008
Elsevier Science
Elsevier
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Summary:Abstract 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 clinical features, i.e., spastic ataxia with peripheral neuropathy, in our patients were similar to those in Quebec patients, our patients exhibited some atypical clinical features, e.g., teenage-onset and absence of retinal hypermyelination. The present family is from Wallonia, and there could be shared ethnicity with the families of Charlevoix–Saguenay.
Bibliography:ObjectType-Case Study-2
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scopus-id:2-s2.0-36549048305
ISSN:0022-510X
1878-5883
DOI:10.1016/j.jns.2007.07.022