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NEUROLOGY 2004;62:637-639
© 2004 American Academy of Neurology
Brief Communications

Phenotypic heterogeneity of dopa-responsive dystonia in monozygotic twins

H. Grötzsch, MD, H. Schnorf, MD, M. A. Morris, PhD, I. Moix, Dipl Biol, J. Horvath, MD, O. Prilipko, MD and P. R. Burkhard, MD

From the Neurology Department (Drs. Grötzsch, Schnorf, Horvath, Prilipko, and Burkhard) and Division of Medical Genetics (Dr. Morris and I. Moix), University Hospital, Geneva, Switzerland.

Address correspondence and reprint requests to Dr. Pierre R. Burkhard, Clinique et Policlinique de Neurologie, Hôpital Cantonal Universitaire/HUG, 1211 Genève 14, Switzerland; e-mail: Pierre.Burkhard{at}hcuge.ch

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.

Received May 28, 2003. Accepted in final form October 17, 2003.




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