Article
Clinical characteristics of combined cases of spinocerebellar ataxia types 6 and 31.
Journal of neurogenetics - 1 Jan 2015
Ohmori Hiroyuki, Hara Akio, Ishikawa Kinya, Mizusawa Hidehiro, Ando Yukio
Abstract excerpt
This study reports the first family in which spinocerebellar ataxia type 6 (SCA6) and spinocerebellar ataxia type 31 (SCA31) mutations were seen. An index patient first presented to our hospital due to gait and speech disturbances. Subsequent clinical investigation of this patient and her family members revealed consistent pure cerebellar ataxia transmitted in an autosomal-dominant manner. Genetic examination...
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