Differential temporal dynamics of axial and appendicular ataxia in SCA3
Objective: To investigate the temporal dynamics of Scale for the Assessment and Rating of Ataxia (SARA) item scores in patients with spinocerebellar ataxia type 3…Paraneoplastic Cerebellar Ataxia Due To Ovarian Teratoma: A Case Report
Objective: report the case of a young woman who presented with rapidly progressive ataxia caused by an ovarian teratoma Background: paraneoplastic cerebellar degeneration (PCD) is…Amyotrophic Lateral Sclerosis with SOD1 mutation presenting with progressive cerebellar ataxia
Objective: To present a rare case of Amyotrophic Lateral Sclerosis (ALS) with cerebellar ataxia onset. Background: ALS is a fatal neurodegenerative disorder known to affect…Phenotype characteristics of ANO10 mutation carries: a case series from Serbia and a systematic review of the literature
Objective: To describe Romani patients with ANO10 mutation diagnosed at a single-center in Serbia and to provide a systematic literature review on ANO10 phenotype and…Hyperintensity in Middle Cerebellar Peduncles, an infrequent and reversible finding in Marchiafava-Bignami Disease.
Objective: We present a case of Marchiafava-Bignami Disease (MBD), where reversible hyperintensity in Middle Cerebellar Peduncle (MCP-sign) is observed. Background: MCP sign is an infrequent…Phenotype-genotype correlation in a case series from South Spain of Hereditary Spastic Paraplegia 7 (SPG7)
Objective: To describe the phenotype and genotype of patients with confirmed diagnosis of SPG7 Background: Coarelli et al described the possible correlation between genotype and…Reliability and Validity of the Greek Translation of the Scale for Assessment and Rating Ataxia in Ataxic Children
Objective: Translation and Cross-cultural adaptation of the Scale for Assessment and Rating Ataxia (SARA) in Greek ataxic pediatric population. Background: Ataxia in the pediatric population…Clinical presentation of coexistence of Spinocerebellar ataxia (SCA14) gene duplication variant in association with Spinocerebellar Ataxia (SCA8) gene mutation in a same patient.
Objective: First case report to demonstrate an overlap of two autosomal dominant ataxia's (SCA8 and SCA14) in same patient expanding the clinical spectrum of spinocerebellar…Prevalence and Clinical Characteristics of Autosomal Dominant Spinocerebellar Ataxia in a Large Canadian Cohort from Ontario
Objective: To describe the prevalence and clinical characteristics of Autosomal Dominant (AD) Spinocerebellar Ataxias (SCA) in a Canadian cohort of patients in Ontario. Background: SCAs…A novel GRM1 variant associated with autosomal dominant cerebellar ataxia (ADCA)
Objective: To present a unique case of ataxia that adds to the genotypic variants associated with the GRM1 gene implicated in SCA44 Background: Heterozygous dominant…
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