Reference : Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis.
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/7328
Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis.
English
Mutesa, Leon [> > > >]
Pierquin, Geneviève mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Segers, Karin mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Vanbellinghen, Jean-François mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Gahimbare, Laetitia [> > > >]
Bours, Vincent mailto [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Génétique générale et humaine >]
2008
Journal of Tropical Pediatrics
Oxford University Press - Journals Department
54
5
350-2
Yes (verified by ORBi)
International
0142-6338
1465-3664
[en] 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.
http://hdl.handle.net/2268/7328
10.1093/tropej/fmn034

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