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…Validation of the EQ-5D-3L in Spinocerebellar Ataxia (SCA)
Objective: Our study aims to assess the acceptability, validity and responsiveness of the EQ-5D-3L in SCA types 1, 2, 3 and 6. Background: Although health-related…Factors influencing health-related quality of life of patients with spinocerebellar ataxia
Objective: The objective was to demonstrate the progression of HRQoL over time and identify factors affecting SCA patients' HRQoL. Background: Spinocerebellar ataxias (SCA) comprise a…Relationship of health-related quality of life (HRQoL) patterns with clinical diagnosis in patients with spinocerebellar ataxia (SCA) – A latent class analysis
Objective: The aim was to identify patterns of the EQ-5D-3L in patients with SCA to describe the relationship between the patient’s diagnosis and clinical parameters.…
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