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…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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