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Measurement & Analysis of the Temporal Discrimination Threshold Applied to Cervical Dystonia
Published on: January 27, 2018
Phenotypic heterogeneity of dopa-responsive dystonia in monozygotic twins
H Grötzsch1, H Schnorf, M A Morris
1Neurology Department, University Hospital, Geneva, Switzerland.
Abstract:
The clinical expression of dopa-responsive dystonia (DRD) was found to be different in a pair of affected monozygotic twins. An earlier onset was associated with a more disabling course of disease. Whereas monozygosity was genetically proven, the search for pathogenic mutations in the GTP-cyclohydrolase-1 gene was negative. The contribution of environmental factors appeared minimal. Intrafamilial variability of DRD phenotype may be related to yet unknown non-Mendelian epigenetic or proteomic factors.
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