spinocerebellar ataxia 1

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spinocerebellar ataxia 12016-11-28T05:34:57+00:00

spinocerebellar ataxia 1

NEUROLOGY

An autosomal dominant condition (OMIM:164400), characterised by cerebellar ataxia, optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia.  

Molecular pathology Expansion of a CAG repeat in the coding region of ATXN1, a gene that encodes ataxin 1, a chromatin-binding factor, cause spinocerebellar ataxia 1.

Synonyms Cerebelloparenchymal disorder type I, CPD1, CPDI, Menzel syndrome, Menzel type OPCA, olivopontocerebellar atrophy—Menzel type, olivopontocerebellar atrophy—Schut-Haymaker type, olivopontocerebellar atrophy type 1, OPCA 1, OPCA 4, OPCA I, OPCA IV, Schut Haymaker syndrome, spinocerebellar atrophy type I 

References http://www.uniprot.org/uniprot/P54253

http://www.omim.org/entry/164400

 

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