title: Central phenotype and related varieties of spinocerebellar ataxia 2 (SCA2): a clinical and genetic study with a pedigree in the Japanese.
abstract: The gene for SCA2 has been mapped to chromosome 12q23-q24.1, but the mutant gene remained to be identified. When studying a Japanese family with SCA2, we noted that clinical features and disability varied among patients, with the central feature being progressive ataxia-slow eye movement-hyporeflexia syndrome. Additional symptoms were parkinsonism with minor cerebellar deficits, and severe ataxia with choreoathetosis. Our experience plus related literature documentation indicates that choreoathetosis is not so rare at the advanced stage of the disease, with onset at an early age, and that the variety of SCA2 phenotype depends on age at onset and duration of the disorder.
authors.affiliation: Department of Neurology, Hokkaido University School of Medicine, Sapporo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Sasaki
authors.forename: T
authors.initials: T
authors.lastname: Fukazawa
authors.forename: A
authors.initials: A
authors.lastname: Wakisaka
authors.forename: K
authors.initials: K
authors.lastname: Hamada
authors.forename: T
authors.initials: T
authors.lastname: Hamada
authors.forename: T
authors.initials: T
authors.lastname: Koyama
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
authors.forename: K
authors.initials: K
authors.lastname: Tashiro
mesh_terms: D000328:Adult; D017668:Age of Onset; D001921:Brain / Q000000981:diagnostic imaging; D002881:Chromosomes, Human, Pair 12; D005133:Eye Movements / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009460:Neurologic Examination; D010375:Pedigree; D010641:Phenotype; D012018:Reflex / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000000981:diagnostic imaging / Q000235:genetics*; D013577:Syndrome; D014057:Tomography, X-Ray Computed