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Review
Genetics of Parkinson’s disease and related disorders
  1. Pei-Lan Zhang1,
  2. Yan Chen1,
  3. Chen-Hao Zhang1,
  4. Yu-Xin Wang1,
  5. Pedro Fernandez-Funez2
  1. 1Department of Neurology, Tianjin Huanhu Hospital, Tianjin, China
  2. 2Department of Biomedical Sciences, University of Minnesota Medical School–Duluth Campus, Duluth, Minnesota, USA
  1. Correspondence to Dr Pei-Lan Zhang, Department of Neurology, Tianjin Huanhu Hospital, Jinnanqu, Tianjin 300350, P.R. China; peilanzhng{at}sina.com and Dr Pedro Fernandez-Funez, Department of Biomedical Sciences, University of Minnesota School of Medicine-Duluth Campus, 1035 University Drive, Duluth, 55812 MN, USA; pfernand{at}d.umn.edu

Abstract

Parkinson’s disease (PD) is a complex and heterogeneous neurological condition characterised mainly by bradykinesia, resting tremor, rigidity and postural instability, symptoms that together comprise the parkinsonian syndrome. Non-motor symptoms preceding and following clinical onset are also helpful diagnostic markers revealing a widespread and progressive pathology. Many other neurological conditions also include parkinsonism as primary or secondary symptom, confounding their diagnosis and treatment. Although overall disease course and end-stage pathological examination single out these conditions, the significant overlaps suggest that they are part of a continuous disease spectrum. Recent genetic discoveries support this idea because mutations in a few genes (α-synuclein, LRRK2, tau) can cause partially overlapping pathologies. Additionally, mutations in causative genes and environmental toxins identify protein homeostasis and the mitochondria as key mediators of degeneration of dopaminergic circuits in the basal ganglia. The evolving mechanistic insight into the pathophysiology of PD and related conditions will contribute to the development of targeted and effective symptomatic treatments into disease-modifying therapies that will reduce the burden of these dreadful conditions.

  • parkinson’s disease
  • parkinsonism
  • basal ganglia
  • disease mechanisms
  • genetics
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Footnotes

  • Contributors PLZ and PFF conceived the study. YC, CHZ and YXW performed literature search and contributed to the draft. PLZ and PFF completed the draft. PFF created the figures. All authors read and approved the final version.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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