Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile-X Associated Tremor/Ataxia Syndrome
Objective: To characterize the cerebrospinal fluid (CSF) profile, as well as to identify potential biomarkers, we quantitatively compared the CSF proteome of FXTAS patients with…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…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…Atypical presentation of Ataxia telangiectasia masquerading as Parkinson’s Disease
Objective: NA Background: Parkinson's disease comprises of rest tremor, bradykinesia as well as difficulty with gait and abnormal posture. Certain neurological disorders may mimic Parkinsonism…Acute cerebellar ataxia as a possible post-COVID-19 manifestation – case report
Objective: To describe a case report that developed acute cerebellar ataxia a short time after being diagnosed with COVID-19. Background: The COVID-19 infection has a…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:…Evolution of disability in spinocerebellar ataxias type 1, 2, 3, and 6
Objective: The aim was to study the evolution of disability in spinocerebellar ataxias type 1, 2, 3, and 6 (SCA1, 2, 3, 6) and to…A case of GAD ataxia and stiff leg syndrome
Objective: Stiff person syndrome and cerebellar ataxia are immunological neurological syndromes associated with the presence of glutamic acid decarboxylase (GAD) antibodies. Background: Patients with GAD…Immune-Mediated and Mercury Intoxication Ataxias: Anti-GAD Antibodies and Dynamic Stabilometriс Assessment
Objective: The goals of our study were evaluation of disequilibrium, static and dynamic functions and anti-GAD antibodies concentrations in immune mediated and mercury intoxication ataxias…
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