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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 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.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Ouyang Y,Segers K,Bouquiaux O,Wang FC,Janin N,Andris C,Shimazaki H,Sakoe K,Nakano I,Takiyama Y

doi

10.1016/j.jns.2007.07.022

subject

Has Abstract

pub_date

2008-01-15 00:00:00

pages

73-6

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(07)00492-3

journal_volume

264

pub_type

杂志文章

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