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Frequency of GBA variants in autopsy-proven multiple system atrophy.

著者 Sklerov M , Kang UJ , Liong C , Clark L , Marder K , Pauciulo M , Nichols WC , Chung WK , Honig LS , Cortes E , Vonsattel JP , Alcalay RN
Mov Disord Clin Pract.2017 Jul-Aug ; 4(4):574-581.
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Multiple system atrophy (MSA) is marked by abnormal inclusions of alpha-synuclein in oligodendrogliocytes. Etiology remains unknown. Variants in the glucocerebrosidase gene have been associated with other synucleinopathies, dementia with Lewy bodies and Parkinson disease. It is unclear whether glucocerebrosidase variants are associated with MSA.
PMID: 28966932 [PubMed]
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