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Journal of Tropical Pediatrics Advance Access published online on May 22, 2008
Journal of Tropical Pediatrics, doi:10.1093/tropej/fmn034
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© The Author [2008]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

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

Léon Mutesaa,b, Geneviève Pierquinb, Karin Segersb, Jean François Vanbellinghenb, Laetitia Gahimbarec and Vincent Boursb

aMedical Genetics Laboratory, National University of Rwanda, CHU of Butare, Rwanda
bCenter for Human Genetics, University of Liège, CHU, Liège, Belgium
cDepartment of Clinical Biology, National University of Rwanda, CHU of Kigali, Rwanda

Correspondence: Prof. Vincent Bours, Center for Human Genetics, CHU Sart-Tilman, University of Liège, 4000 Liège, Belgium. Tel.: (0032)4 366 81 44; Fax: (0032)4 366 81 46. E-mail <vbours{at}ulg.ac.be>.


  Abstract

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.

Key Words: Spinocerebellar ataxia 2 • autosomal dominant • CAG repeats • Central African patients


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