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…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…Distinct impulsive traits in cerebellar ataxia and Parkinson’s disease
Objective: To determine the differences in impulsive personality traits between patients with cerebellar ataxia (CA) and Parkinson’s disease (PD). Background: Impulsivity is a multifaceted construct…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…Autosomal recessive spinocerebellar ataxia type 10: a case report in Mexico
Objective: To provide a comprehensive description of the first clinical case of SCAR10 diagnosed in Mexico. Background: The autosomal recessive spinocerebellar ataxia type 10 is…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…
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