Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

Background:An autosomal dominantly inherited defect in the GCH1 gene that encodes guanosine triphosphate cyclohydrolase 1 (GTPCH1) is the most common cause of dopa-responsive dystonia (DRD). A classic phenotype of young-onset lower-limb dystonia, diurnal fluctuations and excellent response to levodo...

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Veröffentlicht in:	Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 2009-08, Vol.80 (8), p.839-845
Hauptverfasser:	Trender-Gerhard, I, Sweeney, M G, Schwingenschuh, P, Mir, P, Edwards, M J, Gerhard, A, Polke, J M, Hanna, M G, Davis, M B, Wood, N W, Bhatia, K P
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age of Onset Aged Aged, 80 and over Biological and medical sciences Cohort Studies Comorbidity Disease Progression Dopamine Dopamine Agents - therapeutic use Dystonia - drug therapy Dystonia - genetics Dystonia - psychology Family medical history Female Genes Genotype & phenotype GTP Cyclohydrolase - genetics Hormones - blood Humans Levodopa - therapeutic use Long-Term Care Male Medical sciences Mental Disorders - etiology Mental Disorders - psychology Middle Aged Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis Mutation Mutation - genetics Neurology Neurosurgery Treatment Outcome Young Adult
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