Rapidly onset progressive generalised dystonia parkinsonism in a young Indian male with rare FBXO 7 genetic mutation
Objective: To describe a rare case of rapidly progressive generalized dystonia parkinsonism due to FBXO7 gene mutation. Background: Parkinson’s disease is a neurodegenerative disorder of…Cerebrotendinous Xanthomatosis presenting Parkinsonism with bilateral iron accumulation in the basal ganglia
Objective: Cerebrontendinous xanthomatosis(CTX) is a treatable, autosomal recessive, lipid storage disorder disease. Herein, we present a case of CTX. It aims to refresh and improve…A detailed delineation of the clinical phenotype, natural history and quality of life in patients with North Sea Progressive Myoclonus Epilepsy
Objective: To report for the first time on a detailed description of the phenotype, natural history and quality of life (QoL) in a relatively large…Restoring AADC enzyme synthesis in AADC deficiency: MRI-Guided Delivery of AAV2-hAADC Gene Therapy to the Midbrain
Objective: Evaluate the safety and efficacy of real-time MR-guided delivery of adeno-associated virus serotype 2 (AAV2)-hAADC delivery to the SNc and VTA for the treatment…A Case of Diurnally Variable Gut Discomfort in a Patient with RLS
Objective: To report the case of a man with restless legs syndrome (RLS) manifesting as predominantly gastrointestinal discomfort. Background: RLS is an unpleasant urge to…Distribution Characteristics of Limbs Discomfort in Restless Legs Syndrome
Objective: To compare the clinical features of RLS patients with asymmetric distribution of discomfort and symmetry distribution, and provide new ideas for the diagnosis and…Daytime sleepiness in Parkinson’s disease: an indicator of impaired activities of daily living
Objective: To determine the association between excessive daytime sleepiness (EDS) and activities of daily living (ADL) in Parkinson’s disease (PD) patients. Background: EDS is a…The Preferences of Patients with Parkinson’s Disease and their Family Members for Place of End-of-Life Care
Objective: The aim of the research was to determine the preferences of patients with Parkinson´s disease (PD) and their family members for the place of…Stigma and Quality of life in Parkinson’s disease patients on different treatment regimens
Objective: To assess self reported quality of life (QOL) in patients with Parkinson’s disease (PD) under different treatment options and to evaluate the emotional burden…A Protocol to Test the Effects of TDCS on Consolidation of Writing Practice in Parkinson’s Disease
Objective: To investigate effects of transcranial direct current stimulation (tDCS) concurrently applied with writing practice on consolidation of motor learning in Parkinson’s disease (PD) when…
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