Journal
PARKINSONISM & RELATED DISORDERS
Volume 86, Issue -, Pages 81-83Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2021.04.004
Keywords
Dystonia; DYT-GCH1; DYT5a; Dopa-responsive; GCH1
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DYT-GCH1 is the most common form of Dopa-responsive dystonia. A three-generation Portuguese family with the same variant of DYT-GCH1 was analyzed, showing a wide array of phenotypic manifestations including dystonia, parkinsonism, and non-motor symptoms. Further studies are needed to explain the wide clinical expression of this entity.
DYT-GCH1 is the most common form of Dopa-responsive dystonia. We analysed a three-generation Portuguese family with the same variant of DYT-GCH1. Dystonia and parkinsonism were found, along with non-motor symptoms. There was a wide array of phenotypic manifestations. Further studies are needed to explain the wide clinical expression of this entity.
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