Open AccessNeurologic and Psychiatric Manifestations in a Family With a Mutation in Exon 2 of the Guanosine Triphosphate–Cyclohydrolase Gene
Author(s) -
Heidi Hahn,
Melissa R. Trant,
Michael J. Brownstein,
R. Andrew Harper,
Sheldon Milstien,
Ian J. Butler
Publication year - 2001
Publication title -
archives of neurology
Language(s) - English
Resource type - Journals
eISSN - 1538-3687
pISSN - 0003-9942
DOI - 10.1001/archneur.58.5.749
Subject(s) - dystonia , medicine , family history , depression (economics) , anxiety , levodopa , proband , neurology , intellectual disability , psychiatry , genetics , mutation , disease , gene , biology , parkinson's disease , economics , macroeconomics
To investigate the range of clinical features to correlate genotypic and phenotypic manifestations in hereditary progressive and/or levodopa-responsive dystonia due to a defect in the guanosine triphosphate-cyclohydrolase (GCH1) gene.