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Genetics of parkinsonism.
Parkinsonism Relat Disord. 2007; 13 Suppl 3:S233-41.PR

Abstract

Ten years ago, alpha-synuclein mutations were discovered as the first genetic cause of Parkinson's disease (PD). In the following years, linkage mapping and positional cloning studies revealed further highly-penetrant (Mendelian) PD-causing mutations in the parkin, DJ-1, PINK1, LRRK2, and ATP13A2 genes, delineating a highly heterogeneous etiological scenario. Perhaps even more importantly, a low-penetrance LRRK2 mutation (Gly2019Ser) and polymorphic variants in alpha-synuclein and LRRK2 are emerging as relevant genetic determinants for sporadic PD in several populations. Other Mendelian genes remain to be found, but the complete resolution of the genetic architectures of the common PD forms represents the main challenge for the next decade.

Authors+Show Affiliations

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

Pub Type(s)

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

Language

eng

PubMed ID

18267242

Citation

Bonifati, Vincenzo. "Genetics of Parkinsonism." Parkinsonism & Related Disorders, vol. 13 Suppl 3, 2007, pp. S233-41.
Bonifati V. Genetics of parkinsonism. Parkinsonism Relat Disord. 2007;13 Suppl 3:S233-41.
Bonifati, V. (2007). Genetics of parkinsonism. Parkinsonism & Related Disorders, 13 Suppl 3, S233-41. https://doi.org/10.1016/S1353-8020(08)70008-7
Bonifati V. Genetics of Parkinsonism. Parkinsonism Relat Disord. 2007;13 Suppl 3:S233-41. PubMed PMID: 18267242.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetics of parkinsonism. A1 - Bonifati,Vincenzo, PY - 2008/11/19/pubmed PY - 2009/4/2/medline PY - 2008/11/19/entrez SP - S233 EP - 41 JF - Parkinsonism & related disorders JO - Parkinsonism Relat Disord VL - 13 Suppl 3 N2 - Ten years ago, alpha-synuclein mutations were discovered as the first genetic cause of Parkinson's disease (PD). In the following years, linkage mapping and positional cloning studies revealed further highly-penetrant (Mendelian) PD-causing mutations in the parkin, DJ-1, PINK1, LRRK2, and ATP13A2 genes, delineating a highly heterogeneous etiological scenario. Perhaps even more importantly, a low-penetrance LRRK2 mutation (Gly2019Ser) and polymorphic variants in alpha-synuclein and LRRK2 are emerging as relevant genetic determinants for sporadic PD in several populations. Other Mendelian genes remain to be found, but the complete resolution of the genetic architectures of the common PD forms represents the main challenge for the next decade. SN - 1353-8020 UR - https://www.unboundmedicine.com/medline/citation/18267242/Genetics_of_parkinsonism_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1353-8020(08)70008-7 DB - PRIME DP - Unbound Medicine ER -