Article
Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.
Neurogenetics - 1 Jul 2001
Leung J C, Klein C, Friedman J, Vieregge P, Jacobs H, Doheny D, Kamm C, DeLeon D, Pramstaller P P, Penney J B, Eisengart M, Jankovic J, Gasser T, Bressman S B, Corey D P, Kramer P, Brin M F, Ozelius L J, Breakefield X O
Abstract excerpt
Dystonia is a movement disorder involving sustained muscle contractions and abnormal posturing with a strong hereditary predisposition and without a distinct neuropathology. In this study the TOR1A (DYT1) gene was screened for mutations in cases of early onset dystonia and early onset parkinsonism (EOP), which frequently presents with dystonic symptoms. In a screen of 40 patients, we identified three variations,...
Topics
- Adolescent
- Adult
- Age of Onset
- Carrier Proteins
- Child
- Child, Preschool
- DNA Primers
- Dystonia Musculorum Deformans
- Female
- Humans