Genetic, biochemical and clinical findingss in Friedreich’s ataxia patients – relationship with the disease severity
Objective: To investigate the correlation of disease severity in terms of clinical, genetic and molecular parameters in FRDA. Background: : Friedreich ataxia (FRDA) is a…The use of Virtual Reality to Assess the Quality of Life in Patients with Spinocerebellar Ataxia
Objective: To assess independence, confidence and balance for development daily activities in patients with SCAs, before and after rehabilitation with virtual reality (ViR). Background: Spinocerebellar…Deutetrabenazine Reduces Involuntary Movements in Patients Most Severely Impacted by Tardive Dyskinesia in a 3-year Open-Label Extension Trial
Objective: To evaluate the efficacy of deutetrabenazine (DTBZ) in reducing TD in the most severely impacted patients using data from an ongoing open-label extension (OLE)…Substantia nigra echogenicity as a predictor of drug withdrawal response in suspected drug-induced parkinsonism: a five year follow-up study
Objective: To asses the role of transcranial sonography in suspected drug-induced parkinsonism. Background: Differential diagnosis between drug-induced parkinsonism (DIP) and Parkinson’s disease (PD) is challenging,…KMT2B-related disorders: Expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Objective: Clarifying clinical phenotype, molecular genetic features and evolution with deep brain stimulation (DBS) of KMT2B related disease. Background: Heterozygous mutations in KMT2B are associated…Concordance of different evaluation approaches of non-motor symptoms in patients with cervical dystonia
Objective: The aim of our study was to assess the concordance of different evaluation approaches of non-motor symptoms (NMS) in patients with cervical dystonia (CD).…De-novo ß-actin mutation as a cause of seemingly sporadic dystonia-deafness syndrome responsive to deep-brain stimulation
Objective: To elucidate the cause of dystonia and deafness in a 37-year-old woman and to evaluate the response to deep brain stimulation (DBS). Background: Dystonia-deafness…Regional, Not Global, Functional Connectivity Contributes to Isolated Focal Dystonia
Objective: To test the hypothesis that there is shared regional or global functional connectivity dysfunction in a large cohort with isolated focal dystonia affecting different…Management of Dystonia in Europe from Patients’ Experience
Objective: To investigate management of dystonia in Europe from patients' experience obtained from on-line survey. Background: We have reported a lack of specific training in…Initial Results from the Zambian Epidemiology of Parkinson’s disease and Healthcare Registry (ZEPHyR)
Objective: To describe the launch and preliminary findings of ZEPHyR, the first Parkinson’s Disease (PD) registry in Zambia. Background: PD is the second most common…
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