A Case of Autosomal Dominant Hypocalcemia Presenting with Parkinsonism and Widespread Brain Calcifications
Objective: To describe a case of CASR mutation-related hypocalcemia presenting with progressive movement disorder, cognitive decline, and widespread brain calcifications, illustrating the overlap between metabolic and neurodegenerative disorders.…Clinical case of cerebellar ataxia associated with temporal bone tumor
Objective: To describe a clinical case of tumor-induced cerebellar ataxia in an elderly patient. Background: Ataxia can result from various etiologies, including neurodegenerative diseases, stroke,…Hypothalamic Atrophy in CANVAS/RFC1
Objective: We aimed to investigate hypothalamic volumetry in CANVAS/RFC1. Background: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is now recognized as a late-onset multisystem…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…
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