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Acta Neurologica Belgica

Erschienen in:

19.08.2020 | Review article

Genetics of Parkinson's disease

verfasst von: Ajith Cherian, K. P. Divya

Erschienen in: Acta Neurologica Belgica | Ausgabe 6/2020

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Abstract

Less than a quarter century after the discovery of SNCA as the first attributable gene in Parkinson's disease (PD), our knowledge of the genetic architecture underlying this disease has improved by leaps and bounds. About 5–10% of all patients suffer from a monogenic form of PD where mutations in autosomal-dominant (AD) genes—SNCA, LRRK2, and VPS35 and autosomal recessive (AR) genes—PINK1, DJ-1, and Parkin cause the disease. Whole-exome sequencing has described AR DNAJC6 mutations not only in predominantly atypical, but also in patients with typical PD. Majority of PD is genetically complex, caused by the combination of common genetic variants in concert with environmental factors. Genome-wide association studies have identified twenty six PD risk loci till date; however, these show only moderate effects on the risk for PD. The validation of novel genes and its association with PD remains extremely challenging as families harboring rare genetic variants are sparse and globally widespread. This review article aims to provide a comprehensive overview on PD genetics.

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Titel: Genetics of Parkinson's disease
verfasst von: Ajith Cherian
K. P. Divya
Publikationsdatum: 19.08.2020
Verlag: Springer International Publishing
Erschienen in: Acta Neurologica Belgica / Ausgabe 6/2020
Print ISSN: 0300-9009
Elektronische ISSN: 2240-2993
DOI: https://doi.org/10.1007/s13760-020-01473-5

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