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Article

Neuropathology and C ellular P athogenesis of S pinocerebellar A taxia T ype 12

4 Sept 2015

Abstract excerpt

OBJECTIVE: SCA12 is a progressive autosomal-dominant disorder, caused by a CAG/CTG repeat expansion in PPP2R2B on chromosome 5q32, and characterized by tremor, gait ataxia, hyperreflexia, dysmetria, abnormal eye movements, anxiety, depression, and sometimes cognitive impairment. Neuroimaging has demonstrated cerebellar and cortical atrophy. We now present the neuropathology of the first autopsied SCA12 brain and...

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PMID: 26340331
DOI: 10.1002/mds.26348

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