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J Neurol Sci. 2008 Jan 15;264(1-2):73-6. Epub 2007 Aug 22.

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

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1
Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi 329-0498, Japan.

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.

PMID:
17716690
DOI:
10.1016/j.jns.2007.07.022
[Indexed for MEDLINE]
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