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

Authors
Type
Published Article
Journal
Journal of the Neurological Sciences
0022-510X
Publisher
Elsevier
Publication Date
Volume
264
Issue
1-2
Pages
73–76
Identifiers
PMID: 17716690
Source
Medline

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.

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