Identifying genes in Parkinson disease: state of the art

Elaine GY Chew, Jia Nee Foo and Eng-King Tan
Med J Aust 2018; 208 (9): . || doi: 10.5694/mja17.01254
Published online: 21 May 2018

Recent studies are expanding our understanding of the genetic basis of Parkinson disease

Parkinson disease (PD) is a common neurodegenerative disorder which manifests as bradykinesia, movement rigidity and tremors in affected individuals. Our understanding of the genetic basis of PD has been steadily increasing since the initial report of α-synuclein mutations two decades ago.1 Mutations implicated in familial PD fully account for monogenic inheritance and point to potential functional mechanisms underlying PD.2,3 However, most sporadic PD cannot be accounted for by known familial PD genes, with the late-onset nature of PD making further linkage studies challenging. Genome-wide association and whole exome sequencing studies have implicated a growing list of mutations and genes in PD, which are expected to provide new insights into potential pathways involved in PD pathogenicity.

  • 1 Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore
  • 2 Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore
  • 3 National Neuroscience Institute, Singapore
  • 4 Duke–NUS Medical School, Singapore


Eng-King Tan acknowledges funding from the National Medical Research Council Singapore under the Singapore Translational Research Investigator Award and the Translational and Clinical Research Flagship Programme (NMRC/TCR/013-NNI/2014); Duke–NUS Medical School; and the Singapore Millennium Foundation. Jia Nee Foo is a Singapore National Research Foundation Fellow (NRF-NRFF2016-03).

Competing interests:

No relevant disclosures.

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