Assessment of GCA repeat expansion in the GLS gene among Indian patients with Spinocerebellar Ataxia
Objective: Spinocerebellar ataxia (SCA) is a group of neurodegenerative disorders. More than 40 microsatellite repeat loci have been associated with ataxia. The GCA repeat expansion…SCA-2 Presenting as Isolated Progressive Spastic Paraparesis
Objective: Describe an infrequently encountered phenotypical presentation of Spinocerebellar ataxia (SCA) Background: SCAs are a group of genetically diverse neurodegenerative disorders marked by high clinical heterogeneity. …Disease Burden Profile of Patients with Spinocerebellar Ataxia in China: A Real-World Registry Study (2025)
Objective: To analyze the clinical characteristics, diagnostic pathways, and socioeconomic impact on newly registered SCA patients in China during the year 2025. Background: Spinocerebellar ataxia…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…SCA27B and MSA-C with Positive Alpha-Synuclein Skin Biopsy – Case Report
Objective: To present the first reported case of Spinocerebellar Ataxia 27B (SCA27B) and clinically probable Multiple System Atrophy-Cerebellar subtype (MSA-C) with skin biopsy positive for alpha synuclein. Background: SCA27B is…Late-Onset Ataxia, Tremor and Spastic Paraparesis associated with the a Novel CCDC88C Variant: Expanding the Phenotypic Spectrum of mutation in the CCDC88C gene
Objective: to describe a Croatian family presenting with late-onset spastic paraparesis and cognitive decline associated with a distinct amino acid substitution. Background: Variants in CCDC88C…A Methodological Framework for Selecting Digital Gait Outcomes in Clinical Trials
Objective: To present a systematic framework for identifying the most sensitive, reliable, and valid digital gait measures to be used as digital endpoint in clinical…PPP2R2B Splice Variant Dysregulation Promotes Mitochondrial Association and Neuronal Apoptosis in iPSC-Derived Neurons from Spinocerebellar Ataxia Type 12 Patient
Objective: This study aimed to investigate the impact of PPP2R2B mutation in Spinocerebellar Ataxia Type 12 (SCA12) by analysing PPP2R2B splice variant expression, subcellular localization,…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…Mapping Intrinsic Brain Network Connectivity Using Resting-State Functional MRI In Spinocerebellar Ataxia 12 In Comparison with Healthy Controls
Objective: To assess and quantify the functional brain networks in resting-state fMRI (rsfMRI) of patients with spinocerebellar ataxia type 12 (SCA 12) compared with healthy…
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