Genetics of Parkinsons disease and parkinsonism: a practical guide to assessment and testing

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02 Nov 2026 0 comments

Parkinson’s disease (PD) is the most common neurodegenerative movement disorder. PD involves the progressive loss of dopaminergic neurones, usually associated with the accumulation of abnormal aggregates of fibrillar alpha-synuclein. Until the identification of pathogenic mutations in the alpha-synuclein gene (SNCA) in 1997,1 PD was considered a largely sporadic condition. Since then, several other genes have been identified that cause PD or closely related syndromes.2 Monogenic and risk variants in PD help to define disease heterogeneity, provide information to guide accurate diagnosis and prognostication3–6 and are guiding the development of disease-modifying therapies and future clinical trials.

The expanding availability and decreasing cost of genetic testing have increased its clinical role. However, genetic testing has not been uniformly integrated into clinical practice. Many clinicians remain uncertain about its value, particularly in patients without a strong family history. Concerns regarding limited...