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

Adult; Age of Onset; Amino Acid Substitution/genetics; Ataxia/genetics/metabolism/physiopathology; Belgium/ethnology; Chromosome Disorders/genetics/metabolism/physiopathology; DNA Mutational Analysis; Female; Genes, Recessive/genetics; Genetic Markers/genetics; Genetic Predisposition to Disease/genetics; Genetic Testing; Genotype; Heat-Shock Proteins/genetics; Humans; Male; Mutation/genetics; Mutation, Missense/genetics; Pedigree; Peripheral Nervous System Diseases/genetics/metabolism/physiopathology; Quebec/ethnology; Retinal Degeneration/genetics/metabolism/physiopathology; Syndrome

Abstract :

[en] 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.

Disciplines :

Genetics & genetic processes

Author, co-author :

Ouyang, Y.

SEGERS, Karin ; Centre Hospitalier Universitaire de Liège - CHU > Génétique

BOUQUIAUX, Olivier ; Centre Hospitalier Universitaire de Liège - CHU > Médecine de l'appareil locomoteur

WANG, François-Charles ; Centre Hospitalier Universitaire de Liège - CHU > Médecine de l'appareil locomoteur

JANIN, Nicolas ; Centre Hospitalier Universitaire de Liège - CHU > Génétique

ANDRIS, Cécile ; Centre Hospitalier Universitaire de Liège - CHU > Ophtalmologie

Shimazaki, H.

Sakoe, K.

Nakano, I.

Takiyama, Y.

Language :

English

Title :

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

Publication date :

2008

Journal title :

Journal of the Neurological Sciences

ISSN :

0022-510X

Publisher :

Elsevier, Amsterdam, Netherlands

Volume :

264

Issue :

1-2

Pages :

73-6

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 27 January 2012

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Bibliography

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