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Parkinson's genetics--creating exciting new insights
Authors:Grimes D A  Bulman D E
Affiliation:

a Parkinson's Disease and Movement Disorders Clinic, The Ottawa Hospital, Civic Campus, 1053 Carling Ave, Ottawa, Ont., Canada K1Y 4E9

b Centre for Neuromuscular Disease, Ottawa Health Research Institute, University of Ottawa, 501 Smyth Road, Ottawa, Ont., Canada K1H 8L6

Abstract:Parkinson's disease is a complex disorder in which the genetic aspects are only just being realized. The underlying cause for the degeneration of dopaminergic substantia nigra neurons and the formation of Lewy bodies in Parkinson's disease is unknown. The identification of clear inherited forms of the disease has provided important clues as to how this complex process may be occurring. Mutations have now been identified in the -synuclein (4q21.3-23), parkin (6q25.2-27), and ubiquitin carboxy terminal hydrolase-L1 (4p16.3) genes in families with Parkinson's disease. Four additional chromosomal locations; 2p13, 4p14-15, 1p35-36, and 12p11.2-q13.1 have been linked to Parkinson's disease families but no pathologic gene mutations have been identified to date. As additional Parkinson's disease loci are mapped and their genes identified we will continue to add to our understating of the critical biochemical pathways involved and be able to develop effective disease altering treatments.
Keywords:Parkinson's disease   Genetics   Parkin   Synuclein   UCH-L1
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