Article
Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm.
Movement disorders : official journal of the Movement Disorder Society - 1 Mar 2002
Opal Puneet, Tintner Ron, Jankovic Joseph, Leung Joanne, Breakefield Xandra O, Friedman Jennifer, Ozelius Laurie
Abstract excerpt
When primary torsion dystonia is caused by a GAG deletion in the TOR1A gene (DYT1 dystonia), it typically presents with an early-onset dystonia involving distal limbs, subsequently spreading to a generalized dystonia. We describe a large family with an unusually broad variability in the clinical features of their dystonia both with regard to severity and age of onset. The proband of this family succumbed in his...
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