Review

Journal of Neurology

, Volume 261, Issue 2, pp 259-266

First online:

Recent advances in Parkinson’s disease genetics

  • Steven LubbeAffiliated withMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine
  • , Huw R. MorrisAffiliated withMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of MedicineNeurology (C4), University Hospital of Wales Email author 

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

Abstract

The last 5 years have seen rapid progress in Parkinson’s disease (PD) genetics, with the publication of a series of large-scale genome wide association studies for PD, and evaluation of the roles of the LRRK2 and GBA genes in the aetiology of PD. We are beginning to develop a coherent picture of the interplay of Mendelian and non-Mendelian factors in PD. Pathways involved in mitochondrial quality control (mitophagy), lysosomal function and immune function are emerging as important in the pathogenesis of PD. These pathways represent a target for therapeutic intervention and a way in which the heterogeneity of disease cause, as well as disease mechanism, can be established. In the future, there is likely to be an individualised basis for the treatment of PD, linked to the identification of specific genetic factors.

Keywords

Parkinson’s disease Genetics Genome wide-association study LRRK2 Parkin GBA