Journal
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
Volume 18, Issue 8, Pages -Publisher
SPRINGER
DOI: 10.1007/s11910-018-0860-4
Keywords
Parkinson's disease; Glucocerebrosidase; Genetics; Synucleinopathy
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Funding
- Michael J. Fox Foundation
- Canadian Consortium on Neurodegeneration in Aging (CCNA)
- Canadian Glycomics Network (GlycoNet)
- Canada First Research Excellence Fund
- Parkinson's Disease Foundation
- National Institutes of Health
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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. 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.
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