GBA-Associated Parkinson’s Disease and Other Synucleinopathies

Ziv Gan-Or, Christopher Liong, Roy N. Alcalay*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

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. Summary: GBA mutation status may help clinicians estimate PD progression, though mechanisms underlying GBA and synucleinopathy require further understanding.

Original languageEnglish
Article number44
JournalCurrent Neurology and Neuroscience Reports
Volume18
Issue number8
DOIs
StatePublished - 1 Aug 2017
Externally publishedYes

Funding

FundersFunder number
National Institutes of Health
Michael J. Fox Foundation for Parkinson's Research
McGill University
Parkinson’s Disease Foundation of India
Consortium canadien en neurodégénérescence associée au vieillissement
Canadian Glycomics Network
Canada First Research Excellence Fund

    Keywords

    • Genetics
    • Glucocerebrosidase
    • Parkinson’s disease
    • Synucleinopathy

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