RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses

BackgroundParkinson's disease is a progressive neurodegenerative disorder with multifactorial causes, among which genetic risk factors play a part. The RAB GTPases are regulators and substrates of LRRK2, and variants in the LRRK2 gene are important risk factors for Parkinson's disease. We aimed to explore genetic variability in RAB GTPases within cases of familial Parkinson's disease.MethodsWe did whole-exome sequencing in probands from families in Canada and Tunisia with Parkinson's disease without a genetic cause, who were recruited from the Centre for Applied Neurogenetics (Vancouver, BC, Canada), an international consortium that includes people with Parkinson's disease from 36 sites in 24 countries. 61 RAB…

• MJ
  Michael J. Fox Foundation for Parkinson's Research

  Awards: ASAP-000478, ASAP-000509, ASAP-000463
• G
  GlaxoSmithKline
• MF
  Mayo Foundation for Medical Education and Research
• MK
  Merck KGaA
• WT
  Wellcome Trust
• AS
  Aligning Science Across Parkinson’s
• CR
  Cancer Research UK
• NI
  National Institute for Health and Care Research
• DO
  Department of Health and Social Care
• CE
  Canada Excellence Research Chairs, Government of Canada
• NI
  National Institutes of Health

  Award: NS40256
• CI
  Canadian Institutes of Health Research

  Award: 2005-2009
• MR
  Medical Research Council

  Awards: MC_UU_00018/1, MC_UU_00018/1
• NI
  National Institute of Neurological Disorders and Stroke

  Award: P50 NS40256