[Molecular biology of hereditary dystonia].

Abstract excerpt

The causative genes of hereditary dystonia (hereditary progressive dystonia, HPD; dopa-responsive dystonia, DRD) were discovered in 1994-1995. HPD/DRD is caused by the deficiency of dopamine to less than 20% of the normal level in the nigro-striatum of the brain owing to the mutations of the dopamine synthesizing enzymes. Autosomal dominant dystonia (Segawa's disease) was found to be caused by mutations of GTP...

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