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Clinical implications of gene discovery in Parkinson's disease and parkinsonism.
Mov Disord. 2010; 25 Suppl 1:S15-20.MD

Abstract

Over the past decade, major progress has been achieved in the identification of genes associated with Parkinson's disease (PD) and parkinsonism. Five genes have now been shown conclusively to play a role in PD susceptibility. Mutations in three of these genes, PRKN, PINK1, and DJ1, are important in early onset, recessively inherited PD, while mutations in LRRK2 and SNCA result in autosomal-dominant PD. LRRK2 has emerged as the most prevalent genetic cause of PD and has been implicated in both familial and sporadic forms of disease. In addition, autosomal-dominant dementia and Parkinsonism has been shown to be caused by mutations in the MAPT and PGRN genes. Molecular tests are now commercially available for several of these genes; however, in some of them, positive results need to be interpreted with caution until penetrance is better understood. In addition, clinical treatment of PD remains largely unaltered by the results of genetic testing.

Authors+Show Affiliations

Department of Neurology, Mayo Clinic, Jacksonville, Florida 32224, USA.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20187245

Citation

Wider, Christian, et al. "Clinical Implications of Gene Discovery in Parkinson's Disease and Parkinsonism." Movement Disorders : Official Journal of the Movement Disorder Society, vol. 25 Suppl 1, 2010, pp. S15-20.
Wider C, Foroud T, Wszolek ZK. Clinical implications of gene discovery in Parkinson's disease and parkinsonism. Mov Disord. 2010;25 Suppl 1:S15-20.
Wider, C., Foroud, T., & Wszolek, Z. K. (2010). Clinical implications of gene discovery in Parkinson's disease and parkinsonism. Movement Disorders : Official Journal of the Movement Disorder Society, 25 Suppl 1, S15-20. https://doi.org/10.1002/mds.22723
Wider C, Foroud T, Wszolek ZK. Clinical Implications of Gene Discovery in Parkinson's Disease and Parkinsonism. Mov Disord. 2010;25 Suppl 1:S15-20. PubMed PMID: 20187245.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical implications of gene discovery in Parkinson's disease and parkinsonism. AU - Wider,Christian, AU - Foroud,Tatiana, AU - Wszolek,Zbigniew K, PY - 2010/2/27/entrez PY - 2010/2/27/pubmed PY - 2010/6/15/medline SP - S15 EP - 20 JF - Movement disorders : official journal of the Movement Disorder Society JO - Mov Disord VL - 25 Suppl 1 N2 - Over the past decade, major progress has been achieved in the identification of genes associated with Parkinson's disease (PD) and parkinsonism. Five genes have now been shown conclusively to play a role in PD susceptibility. Mutations in three of these genes, PRKN, PINK1, and DJ1, are important in early onset, recessively inherited PD, while mutations in LRRK2 and SNCA result in autosomal-dominant PD. LRRK2 has emerged as the most prevalent genetic cause of PD and has been implicated in both familial and sporadic forms of disease. In addition, autosomal-dominant dementia and Parkinsonism has been shown to be caused by mutations in the MAPT and PGRN genes. Molecular tests are now commercially available for several of these genes; however, in some of them, positive results need to be interpreted with caution until penetrance is better understood. In addition, clinical treatment of PD remains largely unaltered by the results of genetic testing. SN - 1531-8257 UR - https://www.unboundmedicine.com/medline/citation/20187245/Clinical_implications_of_gene_discovery_in_Parkinson's_disease_and_parkinsonism_ DB - PRIME DP - Unbound Medicine ER -