Profile of patients affected by movement disorders in subspecialized outpatient clinics of a tertiary hospital in Southern Brazil
Objective: To delineate the epidemiological and clinical characteristics of movement disorders (MD) in patients attending subspecialty clinics at a tertiary hospital in Southern Brazil. Background:…FGF14 repeat expansions: prevalence and case series of patients with SCA27B from Slovakia
Objective: This study aimed to investigate the presence of pathogenic repeat expansion in the Fibroblast Growth Factor (FGF14) gene in patients with idiopathic late-onset cerebellar…Clinical characteristics of movement disorders associated with multiple sclerosis patients: A cross sectional preliminary single center results.
Objective: The aim of our study was to observe the clinical characteristics of different movement disorders (MD) in patients with multiple sclerosis (MS). Background: Demyelinating…CAPRIN1 defect: a new severe neurodegenerative disorder with childhood dementia, myoclonus-ataxia, and sensorimotor neuropathy
Objective: To present the case of a patient with a severe neurodegenerative disorder with onset in pediatric age carrying a pathogenic variant in CAPRIN1 gene…Longitudinal Analysis of fragile X-associated tremor/ataxia syndrome Progression: A One-Year Follow-Up of 24 Patients
Objective: Determine the rate of progression of motor signs in fragile X-associated tremor/ataxia syndrome (FXTAS) over a one-year follow-up. Background: Limited information exists regarding the…Clinico-radiological and genetic profile of patients with Ataxia with Oculomotor apraxia type-2 (AOA2)- A case series from India
Objective: To delineate clinical, radiological and genetic profile of patients with ataxia with oculomotor apraxia type-2 (AOA2) in Indian cohort. Background: AOA2 is a relatively…‘If you can’t beat them, join them’: a patient and family perspective on quality of life with North Sea progressive myoclonus epilepsy
Objective: To describe the perspectives of patients and their family on quality of life (QoL) in North Sea- Progressive Myoclonus Epilepsy (NS-PME). Background: NS-PME is…paraneoplastic cerebellar ataxia: a rare cause of late-onset ataxia
Objective: investigate the clinical features, imaging findings and immunological characteristics of Paraneoplastic cerebellar ataxia (PCA) in our cohort. Background: Paraneoplastic cerebellar ataxia (PCA) is a…Spectrum of polysomnographic abnormalities in a cohort of sporadic late onset ataxia patients
Objective: To evaluate the occurrence of rapid eye movement behavioral disorder (RBD) and associated polysomnographic abnormalities in patients of sporadic adult onset ataxia Background: Sporadic…Movement disorders secondary to neurocysticercosis: a case report from Bolivia
Objective: The objective is the presentation of a movement disorder related to Taenia solium infection that produces neurocysticercosis. Background: The incidence of neurocysticercosis in Bolivia…
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