Central phenotype and related varieties of spinocerebellar ataxia 2 (SCA2): a clinical and genetic study with a pedigree in the Japanese

Journal of the Neurological Sciences
H SasakiK Tashiro

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.

References

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Citations

Apr 18, 2008·The Cerebellum·Isabel Lastres-BeckerGeorg Auburger
Jul 7, 2001·Journal of the Neurological Sciences·M NamekawaI Nakano
Sep 19, 1998·Journal of the Neurological Sciences·H SasakiK Tashiro
Sep 21, 2000·Revista de neurologia·V L Ruggieri, C L Arberas
Jan 6, 1999·Acta Neurologica Scandinavica·H UeyamaT Tsuda
Jul 2, 2011·Internal Medicine·Noriko NishikawaMasahiro Nomoto
Jul 16, 2004·Movement Disorders : Official Journal of the Movement Disorder Society·Jon InfanteOnofre Combarros
Sep 10, 2013·Parkinsonism & Related Disorders·Ketaki Swapnil BhalsingPramod Kr Pal
Jan 23, 2003·Movement Disorders : Official Journal of the Movement Disorder Society·Walter PirkerFrancois Alesch
Nov 28, 2019·The Journal of International Medical Research·Shu-Ting Li, Yang Zhou
Oct 10, 2003·Neuroreport·Christian BrenneisWerner Poewe
Jun 11, 2014·Movement Disorders Clinical Practice·Marcela Amaral AvelinoMarcelo Rodrigues Masruha

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