Neurotological evaluation on cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (canvas)
Objective: To describe the alterations observed in the vestibular testing in patients with CANVAS. Background: The Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome…POU4F1-related ataxia: phenotyping of a rare genetic ataxia.
Objective: To illustrate the symptoms, signs, and videotaped examination of a rare genetic disorder. Background: POU4F1 encodes a transcription factor involved in nervous system development.…Paraneoplastic cerebellar degeneration due to an anti-SOX 1 antibody manifesting as head tremors, without evidence of underlying malignancy
Objective: To describe a case of Paraneoplastic Cerebellar degeneration (PCD) linked to anti-SOX 1 antibody with no discernible malignancy. Background: PCD is a rare neurological…Analyzing gait videos to identify and evaluate spinocerebellar ataxia types 1 and 3
Objective: To analyze videos of gait to: 1) identify spinocerebellar ataxia types 1 and 3, and 2) predict scores on the gait task section of…Electrophysiology and clinical description of Tremor in Spinocerebellar Ataxia 12 (SCA12)
Objective: To describe the clinical and electrophysiological characteristics of tremor in SCA12. Background: There is scarcity of literature on tremor of SCA12 patients which is…Electrophysiologic and Kinematic characterization of degenerative cerebellar ataxia
Objective: To characterize degenerative cerebellar ataxia by measuring quantitative electrophysiology, upper limb kinematics and gait. Background: Loss of cerebellar brain inhibition (CBI) in ataxia leads…Movement Disorders Associated With Vitamin B12 Deficiency: A Case Series
Objective: we present a case series of movement disorders (MD) due to vitamin B12 deficiency (VB12D) and compare them with the cases reported in the…SARS-CoV-2 Infection and Spinocerebellar Ataxia 12: Demographics, Outcomes and Post- COVID Spectrum
Objective: We aimed to assess the symptoms and long-term symptoms in spinocerebellar ataxia 12 (SCA12) COVID-19 patients. Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)…Late-onset cerebellar ataxia: case report of a new CNV on TTBK2 gene as possible cause of SCA-11
Objective: To describe a case of spinocerebellar ataxia type 11 caused by the copy number variant 43008859_43075833 on the TKKB2 gene Background: The spinocerebellar ataxias…Demographics and Clinical Characteristics of Autosomal Dominant Spinocerebellar Ataxia in Canada: A Multicenter Study
Objective: To describe the demographics and clinical characteristics of Autosomal Dominant (AD) Spinocerebellar Ataxias (SCA) in the Canadian population. Background: SCAs are a group of…
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