This article is a US Government work and, as such, is in the public domain in the United States of America.
Genetics of parkinsonism†
Article first published online: 29 MAR 2002
Copyright © 2002 Movement Disorders Society
Volume 17, Issue 4, pages 645–656, July/August 2002
How to Cite
Gwinn-Hardy, K. (2002), Genetics of parkinsonism. Mov. Disord., 17: 645–656. doi: 10.1002/mds.10173
- Issue published online: 22 JUL 2002
- Article first published online: 29 MAR 2002
- Manuscript Accepted: 11 JAN 2002
- Manuscript Revised: 5 JAN 2002
- Manuscript Received: 14 JUL 2001
- Parkinson's disease;
- Lewy body;
Parkinson's disease (PD) was noted to have a familial component as early as 1880 (Leroux, 1880). More recently, the discovery of several genetic factors influencing parkinsonism has emphasized the importance of heredity in PD. The clinical spectrum of familial parkinsonism is wide; it includes not only PD, but also dementia with Lewy bodies (DLB), progressive supranuclear palsy (PSP), essential tremor, and other disorders. In the general population, it is likely that PD results from combined genetic and environmental factors, most of which are not yet known. The discovery of causal mutations in the gene for α-synuclein, parkin, and of genetic linkages to chromosomes 2p4, 4p5, and three loci on 1q6–8 have revolutionized PD research. This review focuses on recent progress in the Mendelian genetics of PD and those diseases in which parkinsonism is a prominent feature, and considers how these discoveries modify our beliefs regarding the etiology and pathogenesis of these disorders.