Spinocerebellar ataxia type 31 (Q101084): Difference between revisions

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Latest revision as of 17:52, 16 August 2026

An autosomal dominant cerebellar ataxia caused by a non-coding TGGAA repeat expansion in the BEAN and TK2 genes. Characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.

Language	Label	Description	Also known as
default for all languages	ID_250956064
English	Spinocerebellar ataxia type 31	An autosomal dominant cerebellar ataxia caused by a non-coding TGGAA repeat expansion in the BEAN and TK2 genes. Characterized by the late-onset of ataxia, dysarthria and horizontal gaze nystagmus, that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.