Article (Scientific journals)
Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis.
Mutesa, Leon; Pierquin, Geneviève; Segers, Karin et al.
2008In Journal of Tropical Pediatrics, 54 (5), p. 350-2
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Abstract :
[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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Mutesa, Leon
Pierquin, Geneviève ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Segers, Karin ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Vanbellinghen, Jean-François ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Gahimbare, Laetitia
Bours, Vincent ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Génétique générale et humaine
Language :
English
Title :
Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis.
Publication date :
2008
Journal title :
Journal of Tropical Pediatrics
ISSN :
0142-6338
eISSN :
1465-3664
Publisher :
Oxford University Press - Journals Department
Volume :
54
Issue :
5
Pages :
350-2
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 02 March 2009

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