Journal
JOURNAL OF THE NEUROLOGICAL SCIENCES
Volume 264, Issue 1-2, Pages 73-76Publisher
ELSEVIER
DOI: 10.1016/j.jns.2007.07.022
Keywords
ARSACS; the SACS gene; Belgian family; teenage-onset
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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. (C) 2007 Elsevier B.V. All rights reserved.
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