Detecting Lower Extremity Ataxia: Toe-Heel Tap is the Best Screening Tool
Objective: Identify the most reliable bedside screening test for lower extremity ataxia. Background: Accurate identification of ataxia is critical for appropriate diagnosis and treatment. The…Clinical correlation with the Genotype of Friedreich’s Ataxia (FRDA) patients in Indian population
Objective: To describe genotype-phenotype correlation in Indian FRDA patients. Background: Friedreich’s Ataxia(FRDA), an early onset rare autosomal recessive ataxia is caused by bi-allelic loss of…Reclassification of variant c.5825C>T and clinical evidence of variant c.3955_3958dup in a Peruvian family with ATM syndrome
Objective: To describe a Peruvian family carrying variants c.3955_3958dup and c.5825C>T in the ATM gene. Background: Pathogenic variants at ATM gene are associated both, to…Gerstmann-Sträussler-Scheinker disease presenting as a late onset slowly progressive spinocerebellar ataxia: expanding the phenotypic spectrum of genetic prion disease
Objective: We describe a late-onset presentation of Gerstmann-Sträussler-Scheinker disease (GSS) with a novel mutation in the prion protein (PRNP) gene. We compare this case to…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…Impulsivity and Compulsivity in Cerebellar Ataxias
Objective: To elucidate the role of human cerebellum in the reward processing system, of which a new cerebellar circuitry was recently identified in mice [1].…Axial myoclonus and cerebellar ataxia in a patient with mutation in ADCK3
Objective: We herein report a 20 years old female, who presented with axial myoclonus, dysarthria and gait ataxia. Background: Autosomal recessive ataxias are a group…Measurement of speech as a biomarker of neurodegenerative disease using acoustic profiles and machine learning
Objective: To examine the utility of speech biometrics for describing and delineating neurodegenerative diseases using acoustic measures and machine learning procedures. Background: Progressive neurological disorders…Characterization of ataxia in Sjogren’s syndrome
Objective: This study aimed to characterize the pattern of ataxia in Sjogren’s syndrome and also to describe cerebellar ataxia and cerebellar atrophy in some of…The Phenotypical Presentation of SCA8 in Taiwan
Objective: We described the clinical features and phenotypic presentation of 40 patients who was diagnosed with spinocerebellar ataxia type 8 (SCA8) in a single tertiary…
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