Compound heterozygous PANK2 variants in two unrelated kindreds with atypical PKAN
Objective: To describe two unrelated individuals with progressive, late-onset Pantothenate kinase-associated neurodegeneration (PKAN) and a common missense variant in the PANK2 gene Background: Neurodegeneration with Brain-Iron Accumulation…Experience with apomorphine infusion cartridge in France – evaluation of patient and healthcare team benefits
Objective: To evaluate ‘real-world’ benefits for patients with Parkinson’s disease (PD) and impact on healthcare team practice of the introduction of apomorphine infusion (APO) cartridge…NIMHANS Neuropsychological Battery for Elderly in Parkinson’s disease patients: Validation and diagnosis using MDS PD-MCI task force criteria in Indian population
Objective: To validate NIMHANS Neuropsychological Battery for Elderly( NNB-E) and evaluate cognitive impairment in Parkinson's disease (PD) patients in comparison with healthy controls. Background: Cognitive…Quality of Life in African American and White Parkinson’s Disease Patients
Objective: To determine the quality of life of African American (AA) and White patients with Parkinson’s disease (PD) at the Rush University Medical Center (RUMC)…VALIDATING ACCELEROMETRY AS A MEASURE OF ENERGY EXPENDITURE AND PHYSICAL ACTIVITY IN ADULTS WITH HUNTINGTON’S DISEASE
Objective: to validate the use of accelerometers to quantify energy expenditure (EE) under controlled conditions for Huntington’s disease (HD) patients using Indirect Calorimetry (IC) as…Validation of the PD Home Diary for Assessment of Motor Fluctuations in Advanced Parkinson’s Disease
Objective: To determine the validity of the Parkinson’s disease (PD) home diary for quantification of motor states in patients with advanced PD and motor fluctuations.…Hyperkinetic movement disorder following Covid: A Temporal corelation or Coincidental ?
Objective: Hypokinetic movement disorder and parkinsonian like picture has been well described in literature but hyperkinetic movements are extremely rare and less highlighted in global…The role of intraoperative electrophysiological monitoring in implanting globus pallidus internus electrodes in patients with dystonia
Objective: The first aim was to compare the preplanned GPi electrode neuroradiological trajectory with the final trajectory selected after electrophysiological monitoring. The second aim was…What research participants want to know: Feedback from participants in an observational study of Parkinson’s disease
Objective: To compare participant feedback regarding clinical assessments, patient-reported outcomes (PROs), and digital technologies provided in individual research reports in an observational study of Parkinson’s…A child with infantile onset paroxysmal episodes of jerks and stiff limbs
Objective: To present a child with ADCY5 related movement disorder having clinical response to steroids. Background: A 17 year old female, with delayed developmental milestones…
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