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,…Same cerebellar atrophy pattern in hyper- and hypokinetic movement disorders due to mitochondrial cytopathy
Objective: To describe the prevalence and phenotype of movement disorders (MDs) in patients with mitochondrial cytopathy (MC) and corresponding pattern of cerebral atrophy. Background: MCs…Bristle hair may point to hereditary spastic paraplegia type SPG35/ FAHN
Objective: Finding new phenotypic features or biomarkers in hereditary spastic paraplegia type SPG35 / Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN) to help clinicians to identify this…Levodopa-responsive hereditary spastic paraplegia, SPG35, due to FA2H mutations in siblings
Objective: To describe FA2H mutations, one novel, in siblings with SPG35 with symptoms responsive to levodopa. Background: Hereditary spastic paraplegia (HSP) is a phenotypically and…Deficiency of HGprt in Lesch-Nyhan disease is associated with abnormal dopaminergic neurodevelopment in vivo
Objective: To determine the in vivo effects of hypoxanthine-guanine phosphoribosyl transferase (HGprt) deficiency on dopaminergic neurodevelopment in a genetic mouse model of Lesch-Nyhan disease (LND).…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.