title: 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.
authors: Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi 329-0498, Japan.
authors: Y
authors: Y
authors: Ouyang
authors: K
authors: K
authors: Segers
authors: O
authors: O
authors: Bouquiaux
authors: F C
authors: FC
authors: Wang
authors: N
authors: N
authors: Janin
authors: C
authors: C
authors: Andris
authors: H
authors: H
authors: Shimazaki
authors: K
authors: K
authors: Sakoe
authors: I
authors: I
authors: Nakano
authors: Y
authors: Y
authors: Takiyama
mesh_terms: D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution / Q000235:genetics; D001259:Ataxia / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D001530:Belgium / Q000208:ethnology; D025063:Chromosome Disorders / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D011792:Quebec / Q000208:ethnology; D012162:Retinal Degeneration / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D013577:Syndrome
chemical_list: D005819:Genetic Markers; D006360:Heat-Shock Proteins; C404403:SACS protein, human