Reference : Novel SACS mutation in a Belgian family with sacsin-related ataxia.
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/110234
Novel SACS mutation in a Belgian family with sacsin-related ataxia.
English
Ouyang, Y. [> > > >]
SEGERS, Karin mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique]
BOUQUIAUX, Olivier [Centre Hospitalier Universitaire de Liège - CHU > > Médecine de l'appareil locomoteur]
WANG, François-Charles mailto [Centre Hospitalier Universitaire de Liège - CHU > > Médecine de l'appareil locomoteur]
JANIN, Nicolas [Centre Hospitalier Universitaire de Liège - CHU > > Génétique]
ANDRIS, Cécile mailto [Centre Hospitalier Universitaire de Liège - CHU > > Ophtalmologie]
Shimazaki, H. [> > > >]
Sakoe, K. [> > > >]
Nakano, I. [> > > >]
Takiyama, Y. [> > > >]
2008
Journal of the Neurological Sciences
Elsevier
264
1-2
73-6
Yes
International
0022-510X
Amsterdam
The Netherlands
[en] 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
[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.
http://hdl.handle.net/2268/110234
10.1016/j.jns.2007.07.022

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