CerebNet: Deep learning cerebellar subsegmentation for fast and reliable atrophy quantification
Objective: Establish a fast and reliable automatic tool for cerebellar subsegmentation. Background: Quantifying the volume of the cerebellum and its lobes is of profound interest…Extracerebellar Signs and Symptoms in 117 Korean Patients with Early-Stage Spinocerebellar Ataxia
Objective: In this study, extracerebellar signs and symptoms in Korean patients with early-stage spinocerebellar ataxia were investigated. Background: Spinocerebellar ataxias (SCAs) are the most common…Hot cross bun sign in progressive ataxia with ELVOL4 mutation
Objective: To describe a case of progressive gait abnormalities and bulbar dysfunction which was associated with genetic mutation and neuroimaging findings representative of spinocerebellar ataxia…CEREBELLAR COGNITIVE AFFECTIVE SYNDROME IN SPINOCEREBELLAR ATAXIA TYPE 3
Objective: This preliminary study aims to examine whether motor and cognitive features in spinocerebellar ataxia type 3 (SCA3) are manifestations of a shared and parallel,…EATING HABITS AND NUTRITIONAL STATUS OF PATIENTS WITH HEREDITARY ATAXIAS IN A NORTHEAST BRAZILIAN POPULATION
Objective: This study aimed to investigate the eating habits, nutritional and metabolic status in patients with hereditary ataxia (HA) in Northeast Brazil. Background: Studies on…Data-driven model of dynamic biomarkers in SCA3 – from early pre-ataxic to late ataxic disease stages
Objective: The aim was to establish a data-driven model of dynamic biomarkers in SCA3 from the early pre-ataxic to the late ataxic disease stage. Background:…Spinocerebellar ataxia (SCA) type 2 and type 8: a tale of two repeat expansions in a single patient
Objective: To describe the rare occurrence of coexisting SCA Types 2 and 8 in a pediatric patient. Background: SCAs are a group of autosomal dominant…Concurrent SCA3 and SCA10 in a young man with ataxia and prominent dystonia
Objective: To describe a case of a man with pathogenic repeat expansions in both ATXN3 and ATXN10. Background: SCA3 is caused by abnormal polyglutamine repeat…Upward Gaze Palsy in SCA3: a valuable semiological sign
Objective: Evaluate the prevalence of upward gaze palsy (UGP) and investigate its useful in assisting the clinical differentiation of SCAs. Background: Spinocerebellar ataxias (SCAs) represent…Plasma biomarker quantification in SCA3 using the Neurology 4-PLEX A kit and the Simoa technology
Objective: We present the results of plasma biomarker quantification in a cohort of spinocerebellar ataxia type-3 (SCA3) carriers using a Simoa assay. Background: Development of…
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