Dopa-responsive dystonia (DRD) is one form of childhood-onset idiopathic torsion dystonia. Adult-onset parkinsonism has appeared in several previously unaffected members in families with DRD suggesting that this may be an additional phenotypical expression of the disease. We report a family with DRD...
The prevalence of dopa-responsive dystonia in Estonia was 1.4 per 100,000 (95%CI = 0.39–3.65) children less than 18 years of age. In all children with dystonia it is important to think about possible dopa-responsive dystonia as this is treatable condition and improving the quality of life...
Dopa-responsive dystonia (DRD) is a genetic disorder characterized by childhood onset dystonia, dominant inheritance, diurnal symptoms fluctuation and positive levodopa response. Adult-onset DRD is frequently combined with parkinsonism and can be mistaken with young onset Parkinson's disease (YOPD). Bot...
Dopa-responsive dystonia 2011, Handbook of Clinical Neurology Citation Excerpt : Since the discovery of the causative gene, phenotypical variation of AD GCH-1 deficiency has greatly expanded (Bandmann et al., 1996, 1998). Phenotypic variation is further expanded by studies of early-onset cases (...
Dopa-responsive dystonia (DRD) encompasses a group of clinically and genetically heterogeneous disorders that typically manifest as limb-onset, diurnally fluctuating dystonia and exhibit a robust and sustained response to levodopa treatm... S Wijemanne,J Jankovic - 《Nature Reviews Neurology》 被引量:...
17 Furukawa Y: Update on dopa-responsive dystonia: locus heterogeneity and biochemical features. Adv Neurol 2004; 94: 127–138. 18 Steinberger D, Topka H, Fischer D, Mu¨ ller U: GCH1 mutation in a patient with adult- onset oromandibular dystonia. Neurology 1999; 52: 877–879. European...
Dopa-responsive dystonia (DRD) is a genetically heterogeneous syndrome that typically presents in children with gait and balance difficulties as well as leg dystonia. It later progresses to generalized dystonia with or without associated parkinsonian features. About half of the patients have diurnal ...
of four unrelated pedigrees with DOPA-responsive dystonia in which pathogenic GCH1 variants were identified in family members with adult-onset parkinsonism. Do... Niccolo E. Mencacci,Ioannis U. Isaias,Martin M. Reich,... - 《Brain》 被引量: 0发表: 2014年 Genetic and Molecular Basis of Albi...
Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia. Cao,L. et al. Movement Disorders . 2010Fenelon G, Soulas T, Zenasni F, De Langavant LC. The changing face of Parkinson’s disease-associated psychosis: a cross-sectional study based on the new NINDS...
Hjermind LE, Johannsen LG, Blau N, Wevers RA, Lucking CB, Hertz JM, et al. Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency? Mov Disord. 2006;21(5):679–82. : 10.1002/mds.20773 .Hjermind LE, Johannsen LG, ...