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Genetics of Parkinson's disease--state of the art, 2013.
Parkinsonism Relat Disord. 2014 Jan; 20 Suppl 1:S23-8.PR

Abstract

In the past 15 years there has been substantial progress in our understanding of the genetics of Parkinson's disease (PD). Highly-penetrant mutations in different genes (SNCA, LRRK2, VPS35, Parkin, PINK1, and DJ-1) are known to cause rare monogenic forms of the disease. Furthermore, different variants with incomplete penetrance in the LRRK2 and the GBA gene are strong risk factors for PD, and are especially prevalent in some populations. Last, common variants of small effect size, modulating the risk for PD, have been identified by genome-wide association studies in more than 20 chromosomal loci. Here, I first outline the evolution of the research strategies to find PD-related genes, and then focus on recent advances in the field of the monogenic forms, including VPS35 mutations in autosomal dominant PD, and DNAJC6 and SYNJ1 mutations in recessive forms of juvenile parkinsonism. Additional genetic determinants of PD likely remain to be identified, as the currently known mutations and variants only explain a minor fraction of the disease burden. There is great expectation that the new DNA sequencing technologies (exome and whole-genome sequencing) will bring us closer to the full resolution of the genetic landscape of PD.

Authors+Show Affiliations

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands. Electronic address: v.bonifati@erasmusmc.nl.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

24262182

Citation

Bonifati, Vincenzo. "Genetics of Parkinson's Disease--state of the Art, 2013." Parkinsonism & Related Disorders, vol. 20 Suppl 1, 2014, pp. S23-8.
Bonifati V. Genetics of Parkinson's disease--state of the art, 2013. Parkinsonism Relat Disord. 2014;20 Suppl 1:S23-8.
Bonifati, V. (2014). Genetics of Parkinson's disease--state of the art, 2013. Parkinsonism & Related Disorders, 20 Suppl 1, S23-8. https://doi.org/10.1016/S1353-8020(13)70009-9
Bonifati V. Genetics of Parkinson's Disease--state of the Art, 2013. Parkinsonism Relat Disord. 2014;20 Suppl 1:S23-8. PubMed PMID: 24262182.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetics of Parkinson's disease--state of the art, 2013. A1 - Bonifati,Vincenzo, PY - 2013/11/23/entrez PY - 2013/11/23/pubmed PY - 2014/7/12/medline KW - ATP13A2 KW - DJ-1 KW - DNAJC6 KW - FBXO7 KW - Genetics KW - LRRK2 KW - PINK1 KW - PLA2G6 KW - Parkin KW - Parkinson's disease KW - Parkinsonism KW - SNCA KW - SYNJ1 KW - VPS35 SP - S23 EP - 8 JF - Parkinsonism & related disorders JO - Parkinsonism Relat Disord VL - 20 Suppl 1 N2 - In the past 15 years there has been substantial progress in our understanding of the genetics of Parkinson's disease (PD). Highly-penetrant mutations in different genes (SNCA, LRRK2, VPS35, Parkin, PINK1, and DJ-1) are known to cause rare monogenic forms of the disease. Furthermore, different variants with incomplete penetrance in the LRRK2 and the GBA gene are strong risk factors for PD, and are especially prevalent in some populations. Last, common variants of small effect size, modulating the risk for PD, have been identified by genome-wide association studies in more than 20 chromosomal loci. Here, I first outline the evolution of the research strategies to find PD-related genes, and then focus on recent advances in the field of the monogenic forms, including VPS35 mutations in autosomal dominant PD, and DNAJC6 and SYNJ1 mutations in recessive forms of juvenile parkinsonism. Additional genetic determinants of PD likely remain to be identified, as the currently known mutations and variants only explain a minor fraction of the disease burden. There is great expectation that the new DNA sequencing technologies (exome and whole-genome sequencing) will bring us closer to the full resolution of the genetic landscape of PD. SN - 1873-5126 UR - https://www.unboundmedicine.com/medline/citation/24262182/Genetics_of_Parkinson's_disease__state_of_the_art_2013_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1353-8020(13)70009-9 DB - PRIME DP - Unbound Medicine ER -