DystoniaPlease note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. Dopamine-responsive dystonia (DRD), also known as hereditary progressive dystonia with diurnal fluctuation, Segawa's disease, or Segawa's dystonia, is a genetic ...
Molecular genetics of substance use disorders: An umbrella review SandraLopez-Leon, ...Diego A.Forero, inNeuroscience & Biobehavioral Reviews, 2021 3.6.2Candidate gene studies There were six studies identified that studiedopioid dependence(Table 10). In total, four different genes were studied. The...
Multiple mutations in the gene encoding DAT (SLC6A3) have been identified in humans. The phenotypic spectrum varies widely and includes: infantileparkinsonismand dystonia,Attention Deficitand Hyperactivity Disorder (ADHD), Schizophrenia, andAutism Spectrum Disorder(Hansen et al., 2014;Kurian et al., ...
Dopamine-Responsive Dystonia 作者:Kjeld, Pollux Variste 页数:84 ISBN:9786200709486 豆瓣评分 目前无人评价 写笔记 写书评 加入购书单 分享到
Kurian and coworkers identified a subgroup of parkisonism-dystonia patients with a loss-of-function mutation in the DAT gene SLC6A311, whose spectrum was first assessed in pediatric patients11,12. This parkinsonian-like condition was recognized as an autosomal recessive disorder directly caused by ...
Objective: To describe a patient and present video of a dopamine-responsive movement disorder presenting with clinical and laboratory evidence of a neuromuscular transmission (NMT) defect. Results:Male infant aged 7 weeks was admitted to a paediatric intensive care unit. He presented at birth with ...
Here we evaluate the inheritance of restriction fragment length polymorphisms near the DBH gene in families with four subtypes of hereditary dystonia: Jewish and non-Jewish, early onset, generalized idiopathic torsion dystonia (ITD); dopa-responsive dystonia; and myoclonic dystonia. In all families, ...
DYSTONIAMOVEMENT DISORDERSThe clinical spectrum of dopamine-responsive dystonias (DRDs) has expanded over the last decade to comprise several distinct disorders. At the milder end of the clinical spectrum is the autosomal-dominant guanosine triphosphate cyclohydrolase deficiency syndrome (GTPCH-DRD), and...
BackgroundCharacteristic symptoms of Dopamine-responsive dystonia (DRD) are increased muscle tone and Parkinsonian features. Children with DRD are often misdiagnosed. The disorder responds well to treatment with Levodopa.AimTo reflect on a case of DRD.MethodCase report of a 13 years old girl mis...
Striatal dopamine in dopa-responsive dystonia. Comparison, with idiopathic Parkinson's disease and other dopamine-dependent disorders[A].In: Segawa M, Nomura Y, editors. Age-related dopamine-dependent disorders. Monographs in neural science, vol.14[M]. Basel: Karger, 1995. 101～108....