Journal Article

A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33–34

I. Thiffault, M. F. Rioux, M. Tetreault, J. Jarry, L. Loiselle, J. Poirier, F. Gros-Louis, J. Mathieu, M. Vanasse, G. A. Rouleau, J. P. Bouchard, J. Lesage and B. Brais

in Brain

Published on behalf of The Guarantors of Brain

Volume 129, issue 9, pages 2332-2340
ISSN: 0006-8950
Published online May 2006 | e-ISSN: 1460-2156 | DOI: http://dx.doi.org/10.1093/brain/awl110
A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33–34

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Recessive ataxias are a heterogeneous group of diseases. We identified a group of 23 French–Canadian cases belonging to 17 families affected by an autosomal recessive spastic ataxia associated with frequent white matter changes. The fact that 59% of these families have a genealogical relationship to the Portneuf County of Quebec suggests that this is a new form of ataxia with a regional founder effect. All cases present with cerebellar ataxia and spasticity. There is great intrafamilial and interfamilial variability, as illustrated by the spectrum of age of diagnosis (range: 2–59 years, mean: 15.0) and the presence of white matter changes on MRI in 52.4% of cases. The more severe cases have spasticity from birth, scoliosis, dystonia and cognitive impairment and were considered cases of cerebral palsy. Brain MRI constantly shows cerebellar atrophy, which in some cases may be associated with cortical atrophy, leucoencephalopathy and corpus callosum thinning. A genome wide scan uncovered linkage of three families to marker D2S2321 localized on chromosome 2q33–34. Linkage analysis confirmed that all families are linked to the same region [multipoint log of the odds (LOD) score of 5.95]. Haplotype analysis and allele sharing suggest that one common mutation may account for 97% of carrier chromosomes in Quebec. The uncovering of the mutated gene may point to a common pathway for pyramidal and cerebellar degeneration as both are often observed in recessive ataxias and complicated paraplegias.

Keywords: spastic ataxia; paraplegia; founder effect; linkage; genome-wide-scan

Journal Article.  4428 words.  Illustrated.

Subjects: Neurology ; Neuroscience

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