Vestibulo-Ocular Reflex Assessment in Patients with Sporadic Ataxia
Objective: To identify vestibular alterations in patients with sporadic ataxia (SA). Background: Sporadic ataxia (SA) is classified as a neurological condition characterized by adult onset,…Influence of disease progression on the quality of life of individuals with spinocerebellar ataxia type 10
Objective: To evaluate quality of life (QoL) of individuals with Spinocerebellar Ataxia Type 10 (SCA10) and investigate whether there is an association between self-perception and…Chorea and Ataxia as Manifestations of Xeroderma Pigmentosum: A Case Report
Objective: To report a case of a 51-year-old woman with recurrent basal cell carcinoma, severe photosensitivity, and progressive chorea and ataxia caused by xeroderma pigmentosum…Effects of a combined approach with botulinum toxin (BONT) and motor-learning techniques (MLT) on sensori-motor functional connectivity in patients with cervical dystonia (CD)
Objective: Aim of this study is to evaluate sensori-motor connectivity associated with a multimodal BoNT/MLT teratment in CD patients using advanced Resonance Imaging (MRI) techniques.…Prevalence and Correlates of Anxiety & Depression in Cervical Dystonia
Objective: Our aim was to assess the prevalence and severity of mood disorder in our Cervical Dystonia population attending the botulinum toxin clinic and to…Generation and in-depth characterization of induced pluripotent stem cell (iPSC) lines from 10 affected and unaffected carriers of THAP1 mutations
Objective: To establish induced pluripotent stem cells (iPSCs) of affected and unaffected Mutation carriers to investigate disease mechanisms of THAP1 in dystonia. Background: Mutations in…A Registry of Real-World Outcomes Using Deep Brain Stimulation for the Treatment of Dystonia
Objective: The objective of this device registry entails collecting clinical outcomes, economic value and technical performance of a Deep Brain Stimulation (DBS) system capable of…Frequency and Phenoptypic Spectrum of KMT2B Mutations in Childhood-Onset Dystonia: Results from a Single-Centre Cohort Study
Objective: To assess the frequency of KMT2B mutations in a cohort of patients with childhood-onset dystonia and characterize the related molecular and phenotypic spectrum. Background:…Prevalence of REM Sleep Behavior Disorder in Sun City, Arizona
Objective: Determine prevalence of REM Sleep Behavior Disorder (RBD) in Sun City, Arizona Background: RBD is the strongest known clinical risk factor for neurodegenerative disorders…Prevalence and characteristics of patients with progressive supranuclear palsy (PSP) in US health insurance claims data
Objective: To estimate the prevalence of PSP in the United States (US) and present a profile of PSP patients. Background: Progressive supranuclear palsy (PSP) is…
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