Molecular changes of a de novo missense variant in VPS16 in dystonia
Objective: To present an early-onset dystonia patient with a de novo VPS16 missense variant, along with molecular characterization. Background: Mutations of the adaptor protein vacuolar…Is Generalized and Segmental Dystonia Accompanied by Impairments of the Dopaminergic System?
Objective: To investigate functional dopaminergic impairments in dystonia, we compared patients with dystonia and Parkinson’s disease (PD) with normal controls using neuromelanin-sensitive magnetic resonance imaging…Implementing Extension of Community Healthcare Outcomes (ECHO) framework to educate geographically underserved populations in complex Parkinson disease management
Objective: To determine if a teleconferencing didactic and case presentation model could build the capacity of clinicians to diagnose and treat PD and its complications…Patient-Reported Impact of Standard-of-Care: Change in Symptoms Following Dopamine Initiation and Deep Brain Stimulation
Objective: The goal of this study was to describe changes in patient-reported symptoms following initiation of standard-of-care treatment strategies in Parkinson’s disease (PD). Background: A…Clinical Correlates of Functional Motor Disorders in childhood and adolescence: an emerging diagnostic and clinical challenge.
Objective: This retrospective study was aimed to better-characterized FMDs in a pediatric population: 1) describing FMDs clinical manifestations 2) analyzing clinical and demographic variables 3)…A Child with Fever-Induced Paroxysmal Weakness and Encephalopathy with ATP1A3 mutation
Objective: We describe a case of fever-induced paroxysmal weakness and encephalopathy (FIPWE), also known as relapsing encephalopathy with cerebellar ataxia (RECA) and expand the phenotypic…Characterising the incidence of comorbidities, hospitalisations, and death in patients diagnosed with Huntington’s disease: A cohort study of linked Swedish National Registries (2002-2019)
Objective: To investigate comorbidities, hospitalizations, and mortality in patients newly diagnosed with Huntington’s disease using data extracted from three linked Swedish national health registries from…Using patient-reported quality of life outcomes to assess the validity of smartphone-based remote assessment of motor and cognitive performance in manifest Huntington’s disease patients
Objective: Explore associations between remote monitoring of cognitive and motor functions and digitally administered, self-assessed EuroQol 5-dimension 5-level (EQ-5D-5L) items. Background: Assessment of cognitive and…Myoclonus, Tremor, and Ataxia After COVID-19 Infection
Objective: We report a case of myoclonus, tremor, and ataxia after COVID-19 infection with improvement in myoclonus after treatment with levetiracetam. Background: Neurologic manifestations of…Brain SPECT in Patients with Akinetic-Rigid Syndrome Secondary to Radiotherapy
Objective: The aim of this study is to evaluate the results of brain single photon emission computed tomography (SPECT) with 123-iodine ioflupane in patients with brain…
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