GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder
Ziv Gan-Or1, Anat Mirelman2, Ronald B Postuma3
1Montreal Neurological Institute, McGill University Montréal, Quebec, Canada ; Department of Human Genetics, McGill University Montréal, Quebec, Canada.
Annals of Clinical and Translational Neurology
|September 25, 2015
Summary
GBA mutations are linked to rapid eye movement sleep behavior disorder (RBD). This association suggests combining genetic testing with prodromal data can help identify individuals at risk for Parkinson's disease.
Area of Science:
- Neuroscience
- Genetics
- Sleep Medicine
Background:
- Parkinson's disease (PD) is a neurodegenerative disorder.
- Rapid eye movement sleep behavior disorder (RBD) is a prodromal symptom of PD.
- GBA gene mutations are a known risk factor for PD.
Purpose of the Study:
- To investigate the association between GBA mutations and idiopathic RBD.
- To determine if GBA mutations increase the risk of probable RBD in Parkinson's disease patients.
Main Methods:
- GBA gene sequencing in 265 idiopathic RBD patients and 2240 controls.
- Administered RBD questionnaire to 120 Parkinson's disease patients.
- Calculated odds ratios (OR) to assess the association between GBA mutations and RBD.
Main Results:
- GBA mutation carriers had a significantly higher prevalence of RBD (10.2% vs. 1.8%, P < 0.0001).
- The odds of having RBD were 6.24 times higher in GBA mutation carriers compared to controls.
- Among Parkinson's disease patients, GBA mutation carriers had 3.13 times higher odds of probable RBD (P = 0.039).
Conclusions:
- Rapid eye movement sleep behavior disorder is significantly associated with GBA mutations.
- GBA mutations are a risk factor for developing RBD, a prodromal sign of Parkinson's disease.
- Integrating genetic data (GBA mutations) with prodromal symptoms (RBD) may improve early identification of individuals susceptible to Parkinson's disease.
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