1. Novel SACS mutation in a Belgian family with sacsin-related ataxia.
- Author
-
Ouyang Y, Segers K, Bouquiaux O, Wang FC, Janin N, Andris C, Shimazaki H, Sakoe K, Nakano I, and Takiyama Y
- Subjects
- Adult, Age of Onset, Amino Acid Substitution genetics, Ataxia metabolism, Ataxia physiopathology, Belgium ethnology, Chromosome Disorders metabolism, Chromosome Disorders physiopathology, DNA Mutational Analysis, Female, Genetic Markers genetics, Genetic Testing, Genotype, Humans, Male, Mutation, Missense genetics, Pedigree, Peripheral Nervous System Diseases genetics, Peripheral Nervous System Diseases metabolism, Peripheral Nervous System Diseases physiopathology, Quebec ethnology, Retinal Degeneration genetics, Retinal Degeneration metabolism, Retinal Degeneration physiopathology, Syndrome, Ataxia genetics, Chromosome Disorders genetics, Genes, Recessive genetics, Genetic Predisposition to Disease genetics, Heat-Shock Proteins genetics, Mutation genetics
- 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.
- Published
- 2008
- Full Text
- View/download PDF