title: Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis.
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.
authors.affiliation: Medical Genetics Laboratory, National University of Rwanda, CHU of Butare, Rwanda.
authors.forename: Léon
authors.initials: L
authors.lastname: Mutesa
authors.forename: Geneviève
authors.initials: G
authors.lastname: Pierquin
authors.forename: Karin
authors.initials: K
authors.lastname: Segers
authors.forename: Jean François
authors.initials: JF
authors.lastname: Vanbellinghen
authors.forename: Laetitia
authors.initials: L
authors.lastname: Gahimbare
authors.forename: Vincent
authors.initials: V
authors.lastname: Bours
mesh_terms: D000293:Adolescent; D000483:Alleles; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D006801:Humans; D009069:Movement Disorders / Q000209:etiology; D009886:Ophthalmoplegia / Q000209:etiology; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000209:etiology; D010641:Phenotype; D012432:Rwanda; D020754:Spinocerebellar Ataxias / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D018911:Trinucleotide Repeats