Article
DYT1 mutations in early onset primary torsion dystonia and Parkinson disease patients in Chinese populations.
Neuroscience letters - 30 Jan 2009
Yang Jing-Fang, Wu Tao, Li Jian-Yu, Li Yong-Jie, Zhang Yan-Li, Chan Piu
Abstract excerpt
Torsion dystonia is an autosomal dominant movement disorder characterized by involuntary, repetitive muscle contractions and twisted postures. The most severe early onset form of dystonia has been linked to mutations in the human DYT1 (TOR1A) gene encoding a protein termed torsinA. Moreover, dystonia and Parkinson disease share the common feature of reduced dopamine neurotransmission in the striatum, so we...
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