Impulsivity and Compulsivity in Cerebellar Ataxias
Objective: To elucidate the role of human cerebellum in the reward processing system, of which a new cerebellar circuitry was recently identified in mice [1].…Ataxia with(out) oculomotor apraxia: A unique SETX mutation in 3 siblings
Objective: Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive cerebellar ataxia due to SETX gene mutation characterized by progressive cerebellar atrophy, neuropathy,…Outcomes After Weighted Lumbosacral Orthosis (LSO) and Exercises in Patients with Progressive Cerebellar Ataxia
Objective: Readers will recognize the weighted lumbosacral orthosis (LSO) as a tool to enhance balance exercises to improve function in persons with progressive cerebellar ataxia.…A recessive repeat expansion causes CANVAS and is a common cause of Late-Onset Ataxia
Objective: To identify and characterize the genetic cause of common, idiopathic, cerebellar ataxia. Background: Late-onset ataxia is a common reason for neurological consultation, but its…Quantitative evaluation of gait ataxia of Multiple System Atrophy patients
Objective: To perform gait analysis on patients with multiple system atrophy (MSA) and assess whether the obtained data could be used as neurophysiological biomarkers. Background:…A descriptive study with molecular and cytogenetic analysis in patients of ataxia telangiectasia(AT) from the Indian subcontinent
Objective: To characterize the clinical and radiological phenotype in patients with AT and correlate with the genetic analysis. Background: AT is a rare autosomal recessive…Clinico-genetic correlation in 102 Spinocerebellar Ataxia Type 12 (SCA 12) patients
Objective: To report the phenotype among the largest number of genotypically confirmed SCA 12 patients. Background: SCA12 is an autosomal dominant cerebellar ataxia (ADCA) caused…Abnormal Gait in Cerebrotendenious Xanthomatosis a case report
Objective: To identify patients with Cererotendenious xanthomatosis. To present the neurological spectrum of the disease. Background: Cerebrotendenious xanthomatosis is a rare lipid storage disease due…Muscle Ultrasound Comparison between Early, Intermediate and Late Onset Friedreich’s Ataxia
Objective: To elucidate discriminative muscle ultrasound features in Friedreich's ataxia (FA) between pediatric (p-FA), intermediate (i-FA) and very late onset (VLOFA) subgroups. Background: Friedreich’s Ataxia…Huntington’s Disease presenting as sporadic cerebellar ataxia
Objective: To describe a unique case of a woman who presented as a progressive cerebellar ataxia, with no family history of neurological diseases, that after…
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