Clinical and imaging deterioration of a mild case of Wilson’s disease after chelation therapy
Objective: To present a case of a mild wilson disease with neuropsychiatric features which showed clinical and also imaging deteriotation five months after the chelation…Triple X syndrome: Are tremors part of its phenotype?
Objective: To present the case of a woman 47 XXX karyotype who developed tremors, with a background of mild learning disability and epilepsy since childhood.…Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency
Objective: To describe a family with two siblings affected by different dystonic disorders as a resulting phenotype of ECHS1 mutations. Background: ECHS1 encodes a mitochondrial…Human, fly and cellular models of riboflavin transporter neuronopathy
Objective: A) To find the spectrum of defects in riboflavin transporter genes; B) To ascertain the in-vitro cellular effects of SLC52A2 mutations and riboflavin on…Mutant WDR45 links NBIA to impaired autophagy, mitochondrial dysfunction and oxidative stress
Objective: To examine the impact of mutant WDR45 on autophagy,mitochondrial function,and oxidative stress capacity in patient's fibroblasts. Background: Mutations in the WD repeat domain 45…Intracerebroventricular D-galactose injection provokes motor coordination impairment and cerebellar damage in Wistar rats
Objective: The present study was performed to investigate the effect of galactose (GAL) (at concentration in the brain, found in classical galactosemia) on motor coordination…Clinical profile of Wilson’s disease at Yangon General Hospital, Myanmar
Objective: To evaluate clinical, biochemical and imaging profile of patients with Wilson's Disease (WD). Background: There was no reported case series of WD in Myanmar.This…The French experience of liver transplantation for severe neurological forms of Wilson disease
Objective: To evaluate the efficacy of liver transplantation (LT) in patients with severe neurological forms of Wilson disease (WD) who got clinically worse despite a…Substantial motor and non-motor symptoms in children and adults with classical galactosemia and organic acidurias
Objective: To investigate the prevalence of movement disorders (MDs), their impact on quality of life (QoL) and accompanying non-motor symptoms in patients with classical galactosemia…L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency
Objective: To report a patient with L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency. Background: Although segmental dystonia of the cranial muscles is recognized,…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.