Genotype-Specific Risk Factors for Falls in Spinocerebellar Ataxia: A Cross-Sectional Analysis of SCA1, SCA2, SCA3, and SCA6
Objective: To determine fall prevalence and identify predictors of fall risk across SCA1, SCA2, SCA3, and SCA6. Background: Falls represent a major source of morbidity in spinocerebellar…Archimedes Spiral and Straight-Line Drawings as Digital Biomarkers in Cerebellar Ataxia: A Preliminary Study
Objective: To develop a computer vision-based pipeline for extraction of digital biomarkers from hand drawing tasks and to evaluate their correlation with clinical ataxia severity.…Ambulatory prognosis in spinocerebellar ataxia type 6: a single-center cohort study
Objective: To evaluate the ambulatory prognosis and fall-related events in patients with spinocerebellar ataxia type 6 (SCA6) in a real-world clinical setting. Background: SCA6 is…Single-Camera AI Pose Estimation Predicts Clinician-Rated Gait Severity in Cerebellar Ataxia
Objective: We validated a single-camera AI pipeline to predict clinician-rated gait severity in cerebellar ataxia from standard video recordings. Background: Gait instability is among the…Early Manifestations of Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS) Include Dystonic Laryngeal Phenomena
Objective: To describe four patients in whom laryngeal dystonia manifesting as cough and spasmodic dysphonia preceded Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS)…The epidemiological study of multiple system atrophy beginning in Hokkaido, Japan 2014-2026
Objective: To investigate epidemiological information of multiple system atrophy (MSA) patients in Hokkaido by using the data from the Hokkaido Rare-disease Consortium for MSA Extended…Neurological disease progression in adults with ataxia telangiectasia – a longitudinal study
Objective: To evaluate longitudinal neurological disease progression in the largest available worldwide cohort of adults with ataxia-telangiectasia. Background: Ataxia-telangiectasia (AT) is a rare, multisystem neurodegenerative…Evaluation of Cardiac Markers and Clinical Metrics in Friedreich’s Ataxia
Objective: To evaluate cardiac specific markers and clinical metrics associated with Friedreich’s Ataxia (FA) and FA cardiomyopathy severity and progression. Background: Friedreich’s Ataxia is a…A prospective single-center study investigating the utility of supportive features in the diagnosis of multiple system atrophy with predominant cerebellar ataxia
Objective: The present study aimed to determine the utility of supportive motor and nonmotor features in differentiating multiple system atrophy (MSA) with predomainat cerebellar ataxia…Movement Disorder Phenotypes and Etiological Associations in Genetic Early-Onset Ataxias: A Pediatric Cohort Study
Objective: To investigate the frequency, clinical spectrum, and etiological correlates of movement disorders (MD) in early-onset ataxias. Background: Early-onset ataxias are rare genetic disorders (1).…
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