Developmental Validity of the revised improved version of the Fragile X-associated Tremor Ataxia Syndrome Rating Scale (FXTAS-RS)
Objective: To qualitatively validate the revised improved version of the Fragile X-associated Tremor Ataxia Syndrome Rating Scale (FXTAS-RS) for motor signs assessment. Background: Clinimetric analyses…Amelioration of Levodopa-induced Dyskinesias using Genetic Silencing of Striatal CaV1.3 in Parkinsonian Rats: Impact of Sex and Advancing Age
Objective: To advance understanding of striatal CaV1.3 (cacna1d) channel silencing as a therapeutic approach to reduce levodopa-induced dyskinesias (LID), a side effect of long-term escalating…Symptomatic brain calcifications in two patients with JAM2 monoallelic variants.
Objective: To describe two subjects carrying monoallelic JAM2 genetic variant associated with brain calcification. Background: Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder…ASYMMETRIC EARLY-ONSET PARKINSONISM DUE TO PSEN1 MUTATION
Objective: To report a novel case of early-onset parkinsonism due to a presenilin 1 gene (PSEN1) mutation. Background: Mutations in PSEN1 gene are the most…“Happy fix” transiently improves cervical dystonia
Objective: To describe an emotional trick that has not been described in patient with cervical dystonia. Background: Geste antagoniste is a sensory trick that can…A randomized, sham-controlled, crossover trial on Transcranial pulsed current stimulation (tPCS) in Huntington disease
Objective: 1. To assess brain network level dysfunction of Huntington disease (HD). 2. To evaluate the effectiveness of 2-week home-based chronic non-invasive transcranial brain stimulation (NIBS) in…Has the COVID-19 pandemic had an impact on Functional Movement Disorders phenotype?: experience from a specialized Unit in Spain.
Objective: To assess the prevalence of paroxysmal functional movement disorders (PFMD) seen in a specialized Unit before and after the COVID-19 pandemic. Background: COVID-19 pandemic…“Mirror” jaw movements in parkinsonian patients
Objective: To describe synchronous involuntary rhythmic jaw movements during voluntary hand movements in parkinsonian patients. We called them "mirror" jaw movements. Background: Mirror movements (MM)…Role of the cerebellocortical pathway in the pathophysiology of adult with Tourette’s syndrome
Objective: To assess state-dependent cerebellar-cortical connectivity, through transcranial magnetic stimulation (TMS), in adult patients with Tourette Syndrome (TS) during a voluntary tic inhibition task. A…Chronotype and Cognition in Veterans with Parkinson’s Disease
Objective: To determine if chronotype impacts the expression of dementia and/or depression in Veterans with Parkinson's disease (PD). Background: Chronotype reflects the periodicity of biological…
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