Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12.
Identifieur interne : 000152 ( Main/Merge ); précédent : 000151; suivant : 000153Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12.
Auteurs : Elizabeth E. O'Hearn [États-Unis] ; Hyon S. Hwang [États-Unis] ; Susan E. Holmes [États-Unis] ; Dobrila D. Rudnicki [États-Unis] ; Daniel W. Chung [États-Unis] ; Ana I. Seixas [États-Unis] ; Rachael L. Cohen [États-Unis] ; Christopher A. Ross [États-Unis] ; John Q. Trojanowski [États-Unis] ; Olga Pletnikova [États-Unis] ; Juan C. Troncoso [États-Unis] ; Russell L. Margolis [États-Unis]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.
Abstract
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 utilize cell models to characterize potential mechanisms of SCA12 neurodegeneration.
DOI: 10.1002/mds.26348
PubMed: 26340331
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<front><div type="abstract" xml:lang="en">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 utilize cell models to characterize potential mechanisms of SCA12 neurodegeneration.</div>
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