Ziv Gan-Or1,2,3, Christopher Liong4, Roy N Alcalay5. 1. Montréal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada. 2. Department of Human Genetics, McGill University, Montréal, QC, Canada. 3. Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada. 4. Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, 710 West 168th street, New York, NY, USA. 5. Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, 710 West 168th street, New York, NY, USA. rna2104@columbia.edu.
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.
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 PDpatients without GBA mutations. This article describes the structure and function of GBA, reviews recent literature on the clinical phenotype of GBAPD, and suggests future directions for research, counseling, and treatment. RECENT FINDINGS: Several longitudinal studies have shown that GBAPD 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 GBAPD are described. These studies may increase the interest of PDpatients and caregivers in genetic counseling. GBA mutation status may help clinicians estimate PD progression, though mechanisms underlying GBA and synucleinopathy require further understanding.
Authors: Nathan Pankratz; Gary W Beecham; Anita L DeStefano; Ted M Dawson; Kimberly F Doheny; Stewart A Factor; Taye H Hamza; Albert Y Hung; Bradley T Hyman; Adrian J Ivinson; Dmitri Krainc; Jeanne C Latourelle; Lorraine N Clark; Karen Marder; Eden R Martin; Richard Mayeux; Owen A Ross; Clemens R Scherzer; David K Simon; Caroline Tanner; Jeffery M Vance; Zbigniew K Wszolek; Cyrus P Zabetian; Richard H Myers; Haydeh Payami; William K Scott; Tatiana Foroud Journal: Ann Neurol Date: 2012-03 Impact factor: 10.422
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Authors: Alberto J Espay; Lorraine V Kalia; Ziv Gan-Or; Caroline H Williams-Gray; Philippe L Bedard; Steven M Rowe; Francesca Morgante; Alfonso Fasano; Benjamin Stecher; Marcelo A Kauffman; Matthew J Farrer; Chris S Coffey; Michael A Schwarzschild; Todd Sherer; Ronald B Postuma; Antonio P Strafella; Andrew B Singleton; Roger A Barker; Karl Kieburtz; C Warren Olanow; Andres Lozano; Jeffrey H Kordower; Jesse M Cedarbaum; Patrik Brundin; David G Standaert; Anthony E Lang Journal: Neurology Date: 2020-02-26 Impact factor: 9.910
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