Journal Article

Spinocerebellar Ataxia Type 2 (SCA2): Clinical Features and Genetic Analysis

Léon Mutesa, Geneviève Pierquin, Karin Segers, Jean François Vanbellinghen, Laetitia Gahimbare and Vincent Bours

in Journal of Tropical Pediatrics

Volume 54, issue 5, pages 350-352
Published in print October 2008 | ISSN: 0142-6338
Published online May 2008 | e-ISSN: 1465-3664 | DOI: http://dx.doi.org/10.1093/tropej/fmn034
Spinocerebellar Ataxia Type 2 (SCA2): Clinical Features and Genetic Analysis

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Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease that results from the expansion of an unstable trinucleotide CAG repeat encoding for a polyglutamine tract. In normal individuals, alleles contain between 14 and 31 CAG repeats, whereas the pathological alleles have more than 35 CAG repeats. The clinical phenotype of SCA2 includes a progressive cerebellar ataxia with additional features such as ophthalmoplegia, extra-pyramidal or pyramidal signs and peripheral neuropathy.

We report a SCA2 large African family with several affected individuals. A major pathological allele carrying 43 CAG repeats was identified in the proband. To our knowledge, this is a first report of a SCA disorder described in Central African patients, thus indicating the need to consider this diagnosis in young African ataxic patients.

Keywords: Spinocerebellar ataxia 2; autosomal dominant; CAG repeats; Central African patients

Journal Article.  1422 words.  Illustrated.

Subjects: Paediatrics

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