Urinary symptoms and Urodynamic findings in patients with SCAs and DRPLA
Objective: To investigate the lower urinary tract symptoms (LUTS) and findings of the urodynamic study (UDS) in patients with spinocerebellar ataxia (SCA) and dentatorubral pallidoluysian…Clinical and mutation spectrum of Ataxia with oculomotor apraxia-2: An Indian perspective
Objective: To report clinical and mutation spectrum of AOA2 in Indian population Background: The Autosomal Recessive Cerebellar Ataxias (ARCAs) are less explored in Indian population.…Cerebrotendinous Xanthomatosis: A Rare Lipid Storage Disease
Objective: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease. It is caused by the deficiency of mitochondrial enzyme sterol 27-hydroxylase due to…Comorbid Pediatric Early Onset Ataxia and Dystonia – Is the Cerebellum Involved?
Objective: In children with Early Onset Ataxia (EOA), we aimed to determine the prevalence of comorbid dystonia and to explore the pathogenesis by the shared…Loss of paraplegin drives spasticity rather than ataxia in SPG7: A European cohort analysis of 238 patients
Objective: The aim of this work was to delineate the clinical phenotype of SPG7 patients, integrating genetic data and follow-up examinations, taking advantage of a…Muscle Ultrasound Comparison Between Early And Intermediate Onset Friedreich’s Ataxia
Objective: Background: Early-onset Friedreich’s Ataxia (FA) concerns a classic pediatric phenotype (p-FA, starting before 18 years of age), characterized by relentlessly progressive ataxia and (cardio)myopathy.…Relationship between sensory augmentation and exercise routine in the improvement in balance and gait in a patient with lithium-induced ataxia
Objective: This case report describes the use of sensory augmentation and an exercise routine to improve balance and gait in a patient with lithium-induced ataxia.…Astasia, reach and grasp deficits following bilateral medio-dorsal pulvinar lesions
Objective: Analysis of the consequences of bilateral dorso-medial pulvinar lesions Background: Expansion of the dorsal pulvinar in humans and its anatomical connectivity suggests its involvement…Dr. Paula Coutinho’s Seminal Contributions to the Understanding of Machado-Joseph’s Disease
Objective: To recognize the contributions of Dr. Paula Coutinho to Neurology through her studies of Machado-Joseph’s disease (SCA3) Background: One of the unique opportunities in…Steroid-responsive encephalopathy with associated thyroiditis (SREAT) presenting with pure cerebellar ataxia
Objective: To describe two patients with SREAT presenting with progressive cerebellar ataxia. Background: SREAT or Hashimoto’s encephalopathy is an autoimmune encephalopathy typically presenting with rapidly…
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