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Advances in the Genetics of P arkinson's Disease: A Guide for the Clinician
Author(s) -
Sheerin UnaMarie,
Houlden Henry,
Wood Nicholas W.
Publication year - 2014
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.12000
Subject(s) - pink1 , parkin , parkinsonism , genetics , lrrk2 , disease , parkinson's disease , medicine , vacuolar protein sorting , genetic testing , biology , bioinformatics , gene , pathology , saccharomyces cerevisiae
Over the last 16 years, insights in clinical and genetic characteristics of P arkinson's disease ( PD ) have increased substantially. We summarize the clinical, genetic, and pathological findings of autosomal dominant PD linked to mutations in SNCA , leucine‐rich repeat kinase 2 , vacuolar protein sorting‐35, and eukaryotic translation initiation factor 4 gamma 1 and autosomal recessive PD linked to parkin , PINK1 , and DJ‐1, as well as autosomal recessive complicated parkinsonian syndromes caused by mutations in ATP13A2 , FBXO7 , PLA2G6 , SYNJ1 , and DNAJC6 . We also review the advances in high‐ and low‐risk genetic susceptibility factors and present multisystem disorders that may present with parkinsonism as the major clinical feature and provide recommendations for prioritization of genetic testing. Finally, we consider the challenges of future genetic research in PD .