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Genetics of Parkinson's disease.
Acta Neurol Belg. 2020 Dec; 120(6):1297-1305.AN

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.

Authors+Show Affiliations

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India, 695011.Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India, 695011. drdivyakp01@gmail.com.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

32813147

Citation

Cherian, Ajith, and K P. Divya. "Genetics of Parkinson's Disease." Acta Neurologica Belgica, vol. 120, no. 6, 2020, pp. 1297-1305.
Cherian A, Divya KP. Genetics of Parkinson's disease. Acta Neurol Belg. 2020;120(6):1297-1305.
Cherian, A., & Divya, K. P. (2020). Genetics of Parkinson's disease. Acta Neurologica Belgica, 120(6), 1297-1305. https://doi.org/10.1007/s13760-020-01473-5
Cherian A, Divya KP. Genetics of Parkinson's Disease. Acta Neurol Belg. 2020;120(6):1297-1305. PubMed PMID: 32813147.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetics of Parkinson's disease. AU - Cherian,Ajith, AU - Divya,K P, Y1 - 2020/08/19/ PY - 2020/05/07/received PY - 2020/08/11/accepted PY - 2020/8/20/pubmed PY - 2021/6/1/medline PY - 2020/8/20/entrez KW - Bradykinesia KW - Lewy body KW - Mutation KW - Parkin KW - Tremor KW - Ubiquitin KW - α-synuclein SP - 1297 EP - 1305 JF - Acta neurologica Belgica JO - Acta Neurol Belg VL - 120 IS - 6 N2 - 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. SN - 2240-2993 UR - https://www.unboundmedicine.com/medline/citation/32813147/Genetics_of_Parkinson's_disease_ L2 - https://dx.doi.org/10.1007/s13760-020-01473-5 DB - PRIME DP - Unbound Medicine ER -
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