Phenotypic heterogeneity of dopa-responsive dystonia in monozygotic twins.
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.
Grötzsch
H
H
Neurology Department, University Hospital, Geneva, Switzerland.
Schnorf
H
H
Morris
M A
MA
Moix
I
I
Horvath
J
J
Prilipko
O
O
Burkhard
P R
PR
D000328:Adult; D001545:Benserazide / Q000627:therapeutic use; D001708:Biopterins / Q000134:cerebrospinal fluid / Q000172:deficiency; D003025:Clubfoot / Q000235:genetics; D004295:Dihydroxyphenylalanine / Q000627:therapeutic use*; D018450:Disease Progression; D004200:Diseases in Twins; D015259:Dopamine Agents / Q000627:therapeutic use; D020821:Dystonic Disorders / Q000134:cerebrospinal fluid / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006136:GTP Cyclohydrolase / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D019798:Neopterin / Q000134:cerebrospinal fluid / Q000172:deficiency; D010641:Phenotype; D014430:Twins, Monozygotic
D015259:Dopamine Agents; D001708:Biopterins; D004295:Dihydroxyphenylalanine; D019798:Neopterin; D001545:Benserazide; D006136:GTP Cyclohydrolase