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

Statistics

Number of views

106 (6 by ULiège)

Number of downloads

3 (3 by ULiège)

More statistics

Scopus citations^®

Scopus citations^®
without self-citations

OpenCitations

OpenAlex citations

Bibliography

Bouchard J.P., Barbeau A., Bouchard R., and Bouchard RW. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci 5 (1978) 61-69
Engert J.C., Bérubé P., Mercier J., Dore C., Lepage P., Ge B., et al. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 24 (2000) 120-125
Takiyama Y. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuropathology 26 (2006) 368-375
Takiyama Y. Sacsinopathies: sacsin-related ataxia. Cerebellum (2007) 6
Takado Y., Hara K., Shimohata T., Tokiguchi S., Onodera O., and Nishizawa M. New mutation in the non-gigantic exon of SACS in Japanese siblings. Mov Disord 22 (2007) 748-749
Gomez C.M. A.R.S.A.C.S., goes global. Neurology 62 (2004) 10-11
Ouyang Y., Takiyama Y., Sakoe K., Shimazaki H., Ogawa T., Nagano S., et al. Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon. Neurology 66 (2006) 1103-1104
Shimazaki H., Takiyama Y., Sakoe K., Ando Y., and Nakano I. A phenotype without spasticity in sacsin-related ataxia. Neurology 64 (2005) 2129-2131
Shimazaki H., Sakoe K., Niijima K., Nakano I., and Takiyama Y. An unusual case of a spasticity-lacking phenotype with a novel SACS mutation. J Neurol Sci 255 (2007) 87-89
Criscuolo C., Banfi S., Orio M., Gasparini P., Monticelli A., Scarano V., et al. A novel mutation in SACS gene in a family from southern Italy. Neurology 62 (2004) 100-102
El Euch-Fayache G., Lalani I., Amouri R., Turki I., Ouahchi K., and Hung W.Y. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. Arch Neurol 60 (2003) 928-982
Richter A.M., Ozgul R.K., Poisson V.C., and Topaloglu H. Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. Neurogenetics 5 (2004) 165-170
Criscuolo C., Sacca F., De Michele G., Mancini P., Combarros O., Infante J., et al. Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia. Mov Disord 20 (2005) 1358-1361
Rost B., and Sander C. Prediction of protein secondary structure at better than 70% accuracy. J Mol Biol 232 (1993) 584-599
Krebe S., Azzedine H., Durr A., Bastien P., Bouslam N., Elleuch N., et al. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain 129 (2006) 1456-1462
Bouslam N., Bouhouche A., Benomar A., Hanein S., Klebe S., Azzedine H., et al. A novel locus for autosomal recessive spastic ataxia on chromosome 17p. Hum Genet 121 (2007) 413-420 [Published online]