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Article

Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.

Genes - 7 Mar 2022

Jia Fangzhi, Fellner Avi, Kumar Kishore Raj

Abstract excerpt

Parkinson's disease may be caused by a single pathogenic variant (monogenic) in 5-10% of cases, but investigation of these disorders provides valuable pathophysiological insights. In this review, we discuss each genetic form with a focus on genotype, phenotype, pathophysiology, and the geographic and ethnic distribution. Well-established Parkinson's disease genes include autosomal dominant forms (SNCA, LRRK2, and...

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Identifiers

PMID: 35328025
DOI: 10.3390/genes13030471
PMCID: PMC8950888

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