Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's

Abstract

We hypothesized that specific mutations in the β‐glucocerebrosidase gene (GBA) causing neuropathic Gaucher's disease (GD) in homozygotes lead to aggressive cognitive decline in heterozygous Parkinson's disease (PD) patients, whereas non‐neuropathic GD mutations confer intermediate progression rates.

Document Details

Document Type
Pub Defense Publication
Publication Date
Nov 01, 2016
Source ID
10.1002/ana.24781

Entities

People

  • Alexis Brice
  • Alexis Elbaz
  • Bernard Ravina
  • Brendon Boot
  • Caroline H. Williams‐gray
  • Clemens R. Scherzer
  • Florence Cormier‐dequaire
  • For The International Genetics Of Parkinson Disease Progression (igpp) Consortium
  • Ganqiang Liu
  • Iris E. Jansen
  • Jacobus J. Van Hilten
  • Jean‐christophe Corvol
  • Johan Marinus
  • Joseph J. Locascio
  • Peter Heutink
  • Roger A. Barker
  • Shirley Eberly
  • Sophie Winder‐rhodes

Organizations

  • Assistance Publique – Hôpitaux de Paris
  • Brigham and Women's Hospital
  • French National Institute of Health and Medical Research
  • German Center for Neurodegenerative Diseases
  • Harvard Medical School
  • Harvard NeuroDiscovery Center
  • Leiden University
  • Massachusetts General Hospital
  • Medical Research Council
  • National Institute for Health and Care Research
  • National Institutes of Health
  • Parkinson's Foundation
  • Parkinson's UK
  • Princess Beatrix Muscle Disease Fund
  • Sorbonne University
  • Stichting ParkinsonFonds
  • The Michael J. Fox Foundation
  • United States Department of Defense
  • University of Cambridge
  • University of Paris-Sud
  • University of Rochester
  • VU University Medical Center
  • Voyager Therapeutics
  • Wellcome Trust

Tags

Fields of Study

  • Biology
  • Psychology

Readers

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