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…Automatic quantification of micro-sleep stability in isolated REM sleep behavior disorder and Parkinson’s disease
Objective: To investigate micro-sleep stability in patients with Parkinson’s disease (PD) with REM sleep behavior disorder (PD+RBD), PD patients without RBD (PDnoRBD), patients with isolated…Dyadic analysis of the Parkinson’s disease impact on the patient-spouse couple
Objective: The present research aims to understand the dyadic functioning of couples faced with Parkinson’s disease (PD) considering disease progression. Background: PD has detrimental effects…Considerations before initiating therapy in Parkinsonism: basing on the health-related quality of life.
Objective: We aimed to compare the determinants of life quality between drug naïve PD and MSA-P patients. Background: To improve the quality of life (QoL)…Impact of cathine and carthinone use among Parkinson’s disease Patients
Objective: Evaluate cathine and cathinone’s effect on alertness, energy, sleep pattern, and tremor among Parkinson’s disease patient. Background: Khat, a plant that contains amphetamine like…Evaluating Implementation of an Evidence-based Physical and Occupational Therapy (LSVT BIG®) for Parkinson’s Disease: Germany, France and Japan
Objective: To evaluate implementation of LSVT BIG across diverse health care systems, languages, and culture in Germany, France and Japan. Background: The goal of implementation…
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