..., distribution, and reproduction in any medium, provided the original work is properly cited. Mutations in the gene encoding the dopamine-synthetic enzyme GTP cyclohydrolase-1 (GCH1) cause DOPA-responsive dystonia (DRD). Mencacci et al. demonstrate that GCH1 variants are associated...

... 23 2 2009 © The Author (2009). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: [email protected] 2009 Abstract Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized...

...Adam Harper; Mark Bayliss; Romi Saha; Amanda Scutt; Angus Nisbet A lot of the data on dopa-responsive dystonia come from paediatric reports from the Far East [ 3,4 ]. It results from abnormal dopamine synthesis in the striatum rather than neuronal loss. It typically presents with gait disturbance...

... ( Segawa et al., 1976 ; Hwang et al., 2001 ). Abstract Levodopa‐treated Parkinson’s disease is often complicated by the occurrence of motor fluctuations, which can be predictable (‘wearing‐off’) or unpredictable (‘on–off’). In contrast, untreated dopa‐responsive dystonia (DRD) is usually...

... of most cases was broadly comparable to that of previous descriptions of autosomal recessive early‐onset or juvenile parkinsonism and young‐onset Parkinson’s disease and also had similarities with phenotypes of dopa‐responsive dystonia. However, our only case with consanguineous parents had an age...

... dystonias ( DYT6 and DYT13 ), dopa‐responsive dystonia, myoclonus dystonia, rapid‐onset dystonia parkinsonism, Fahr disease, Aicardi–Goutieres syndrome, Hallervorden–Spatz syndrome, X‐linked dystonia parkin sonism, deafness–dystonia syndrome, mitochondrial dystonias, neuroacanthocytosis...

...Johann Tassin; Alexandra Dürr; Anne-Marie Bonnet; Roger Gil; Marie Vidailhet; Christoph B. Lücking; Jean-Yves Goas; Franck Durif; Myriem Abada; Bernard Echenne; Jacques Motte; Alain Lagueny; Lucette Lacomblez; Pierre Jedynak; Barbara Bartholomé; Yves Agid; Alexis Brice DOPA-responsive dystonia...

... hydroxylase HVA, homovanillic acid CNS, central nervous system VMA, vanillylmandelic acid CSF, cerebrospinal fluid MHPG, 3-methoxy-4-hydroxyphenylethyleneglycol 5-HIAA, 5-hydroxyindolacetic acid DRD, dopa-responsive dystonia 3-OMD, 3-o-methyldopa carbidopa, (S)-2-(3,4...

... oxidase inhibitor cholinesterase inhibitor essential tremor tic dystonia primary dystonia dopa-responsive dystonia myoclonic dystonia parkinsonian syndrome botulinum toxin chorea Huntington’s disease corticobasal degeneration hypokinetic movement disorders movement disorders multisystem...

... photon emission computed tomography DAT SPECT dopa responsive dystonia DRD dystonia dystonia plus syndromes DYT genes functional imaging GCH1 gene genetics myoclonus–dystonia MD essential myoclonus positron emission tomography PET single photon emission computed tomography SPECT writer’s cramp...

... cyclohydrolase deficiency (Segawa disease or classical Dopa-responsive dystonia as the heterozygous form), aromatic amino acid decarboxylase deficiency, tyrosine hydrolase deficiency, sepiapterin reductase deficiency, and disorders of tetrahydrobiopterin synthesis. These disorders can be classified according...