Abstract:
PURPOSE OF REVIEW: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. RECENT FINDINGS:Several longitudinal studies have shown that GBA PD has faster motor and cognitive progression than idiopathic PD and that this effect is dose dependent. New evidence suggests that GBA mutations may be important in multiple system atrophy. Further, new interventional studies focusing on GBA PD are described. These studies may increase the interest of PD patients and caregivers in genetic counseling. GBA mutation status may help clinicians estimate PD progression, though mechanisms underlying GBA and synucleinopathy require further understanding.
journal_name
Curr Neurol Neurosci Repjournal_title
Current neurology and neuroscience reportsauthors
Gan-Or Z,Liong C,Alcalay RNdoi
10.1007/s11910-018-0860-4subject
Has Abstractpub_date
2018-06-08 00:00:00pages
44issue
8eissn
1528-4042issn
1534-6293pii
10.1007/s11910-018-0860-4journal_volume
18pub_type
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journal_title:Current neurology and neuroscience reports
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journal_title:Current neurology and neuroscience reports
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journal_title:Current neurology and neuroscience reports
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更新日期:2005-11-01 00:00:00
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journal_title:Current neurology and neuroscience reports
pub_type: 杂志文章,评审
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