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GBA-Associated Parkinson's Disease and Other Synucleinopathies.

著者 Gan-Or Z , Liong C , Alcalay RN
Curr Neurol Neurosci Rep.2018 Jun 08 ; 18(8):44.
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GBA mutations are the most common known genetic cause of Parkinson's disease (PD). Its biological pathway may be important in idiopathic PD, since activity of the enzyme encoded by GBA, glucocerebrosidase, is reduced even among PD patients without GBA mutations. This article describes the structure and function of GBA, reviews recent literature on the clinical phenotype of GBA PD, and suggests future directions for research, counseling, and treatment.
PMID: 29884970 [PubMed - in process]
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