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Current Neurology and Neuroscience Reports

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01.08.2017 | Genetics (V Bonifati, Section Editor)

GBA-Associated Parkinson’s Disease and Other Synucleinopathies

verfasst von: Ziv Gan-Or, Christopher Liong, Roy N. Alcalay

Erschienen in: Current Neurology and Neuroscience Reports | Ausgabe 8/2018

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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.

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Titel: GBA-Associated Parkinson’s Disease and Other Synucleinopathies
verfasst von: Ziv Gan-Or
Christopher Liong
Roy N. Alcalay
Publikationsdatum: 01.08.2017
Verlag: Springer US
Erschienen in: Current Neurology and Neuroscience Reports / Ausgabe 8/2018
Print ISSN: 1528-4042
Elektronische ISSN: 1534-6293
DOI: https://doi.org/10.1007/s11910-018-0860-4

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GBA-Associated Parkinson’s Disease and Other Synucleinopathies

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