Genetics of Parkinson's disease and related disorders

Pei Lan Zhang, Yan Chen, Chen Hao Zhang, Yu Xin Wang, Pedro Fernandez-Funez

Research output: Contribution to journalReview articlepeer-review

17 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)73-80
Number of pages8
JournalJournal of medical genetics
Volume55
Issue number2
DOIs
StatePublished - Feb 1 2018

Keywords

  • Parkinson's disease
  • basal ganglia
  • disease mechanisms
  • genetics
  • parkinsonism

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