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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Spinocerebellar ataxia type 2 (SCA2): Clinical features and genetic analysis
Journal of Tropical Pediatrics, Volume 54, No. 5, Year 2008
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Description
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. © The Author [2008]. Published by Oxford University Press. All rights reserved.
Authors & Co-Authors
Mutesa, Léon
Rwanda, Butare
University of Rwanda
Belgium, Liege
Centre Hospitalier Universitaire de Liege
Pierquin, Geneviève
Belgium, Liege
Centre Hospitalier Universitaire de Liege
Segers, Karin A.
Belgium, Liege
Centre Hospitalier Universitaire de Liege
Vanbellinghen, Jean François
Belgium, Liege
Centre Hospitalier Universitaire de Liege
Gahimbare, Laetitia
Rwanda, Butare
University of Rwanda
Bours, Vincent
Belgium, Liege
Centre Hospitalier Universitaire de Liege
Statistics
Citations: 14
Authors: 6
Affiliations: 2
Identifiers
Doi:
10.1093/tropej/fmn034
ISSN:
01426338
e-ISSN:
14653664
Research Areas
Genetics And Genomics