A case of generalized early-onset dystonia with a novel low-penetrant THAP1 missense variant
Objective: To present a new case with generalized dystonia carrying a novel heterozygous likely pathogenic THAP1 variant associated with reduced penetrance Background: Dystonia is a…Fatigue in patients with focal and segmental dystonia
Objective: To determine relation of fatigue to depression, anxyety and sleep disorder in patients with focal and segmental dystonia. Background: Dystonia is movement disorder characterised…Multimodal neuroimaging during motor tasks in upper limb dystonia
Objective: To investigate brain activation and connectivity dynamics in individuals with idiopathic dystonia during motor tasks using Electroencephalography (EEG), Functional Magnetic Resonance (fMRI) and Functional…Short- and Long-term Healthcare Resource Utilization in Parkinson’s Disease – 20 years of Follow Up in a Population-based Cohort
Objective: To assess Parkinson’s disease (PD) burden by means of healthcare resource utilization (HCRU) and clinical outcomes in Israeli PD patients during 20-year period ,2000…Estimation of the 2020 Global Population of Parkinson’s Disease (PD)
Objective: To estimate the number of individuals living with PD globally in 2020. Background: Although previous studies have estimated PD prevalence in many countries, the…Clinical and demographic characteristics of patients with Functional Movement Disorders in Spain: a Consecutive Cohort Study
Objective: This study aims to describe the clinical and sociodemographic features of patients diagnosed with a functional movement disorder (FMD) at our specialised FMD clinic.…Analysing an extension type of Parkinson’s disease
Objective: We analyse an extension type of Parkinson’s disease. Background: At the International Congress of the Movement Disorder Society last year, we reviewed a patient…Evaluation of the Safety of Deutetrabenazine at Higher Doses to Treat Chorea in Huntington’s Disease
Objective: To evaluate the safety and tolerability of deutetrabenazine >48 mg/d compared to ≤48 mg/d to treat Huntington’s disease (HD)–associated chorea in ARC-HD. Background: In…Evaluation of Cortical Excitability in Huntington’s Disease and Parkinson’s Disease
Objective: To evaluate the cortical excitability difference in Huntington's disease (HD) and Parkinson's disease (PD) using paired-pulse transcranial magnetic stimulation (TMS). Background: TMS is useful…Diagnostic accuracy of MR planimetry in clinically unclassifiable parkinsonism
Objective: To determine diagnostic accuracy of P/M, MRPI, and new indices termed P/M2.0 and MRPI2.0 (multiplying P/M and MRPI by third ventricle width/frontal horns width…
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