Article
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
Human molecular genetics - 1 Apr 1999
Abbas N, Lücking C B, Ricard S, Dürr A, Bonifati V, De Michele G, Bouley S, Vaughan J R, Gasser T, Marconi R, Broussolle E, Brefel-Courbon C, Harhangi B S, Oostra B A, Fabrizio E, Böhme G A, Pradier L, Wood N W, Filla A, Meco G, Denefle P, Agid Y, Brice A
Abstract excerpt
Autosomal recessive juvenile parkinsonism (AR-JP, PARK2; OMIM 602544), one of the monogenic forms of Parkinson's disease (PD), was initially described in Japan. It is characterized by early onset (before age 40), marked response to levodopa treatment and levodopa-induced dyskinesias. The gene responsible for AR-JP was recently identified and designated parkin. We have analysed the 12 coding exons of the parkin...
Topics
- Binding Sites
- Europe
- Exons
- Family Health
- Female
- Gene Deletion
- Genes, Recessive
- Genotype
- Humans