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

• Published in: Journal of the neurological sciences Vol. 264; no. 1; pp. 73 - 76
• Main Authors: Ouyang, Y, Segers, K, Bouquiaux, O, Wang, F.C, Janin, N, Andris, C, Shimazaki, H, Sakoe, K, Nakano, I, Takiyama, Y
• Format: Journal Article Web Resource
• Language: English
• Published: Shannon Elsevier B.V 15.01.2008; Elsevier Science; Elsevier
• Subjects: Adult; Age of Onset; Amino Acid Substitution - genetics; ARSACS; Ataxia - genetics; Ataxia - metabolism; Ataxia - physiopathology; Ataxia/genetics/metabolism/physiopathology; Belgian family; Belgium - ethnology; Biological and medical sciences; Chromosome Disorders - genetics; Chromosome Disorders - metabolism; Chromosome Disorders - physiopathology; Chromosome Disorders/genetics/metabolism/physiopathology; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Diseases of striated muscles. Neuromuscular diseases; DNA Mutational Analysis; Female; Genes, Recessive - genetics; Genetic Markers - genetics; Genetic Predisposition to Disease - genetics; Genetic Testing; Genetics & genetic processes; Genotype; Génétique & processus génétiques; Heat-Shock Proteins - genetics; Humans; Life sciences; Male; Medical sciences; Mutation - genetics; Mutation, Missense - genetics; Neurology; Pedigree; Peripheral Nervous System Diseases - genetics; Peripheral Nervous System Diseases - metabolism; Peripheral Nervous System Diseases - physiopathology; Peripheral Nervous System Diseases/genetics/metabolism/physiopathology; Quebec - ethnology; Retinal Degeneration - genetics; Retinal Degeneration - metabolism; Retinal Degeneration - physiopathology; Retinal Degeneration/genetics/metabolism/physiopathology; Sciences du vivant; Syndrome; Teenage-onset; The SACS gene; Belgium; Quebec; ARSACS; The SACS gene; Belgian family; Teenage-onset; Nervous system diseases; Central nervous system disease; Ataxia; Mutation; Neurological disorder; Cerebral disorder
• ISSN: 0022-510X; 1878-5883
• DOI: 10.1016/j.jns.2007.07.022

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.