Peripheral neuropathy in Autosomal Recessive Spinocerebellar Ataxia due to ANO10 mutation – Expanding the phenotypic spectrum
Objective: SCAR10/ Adult-onset autosomal recessive cerebellar ataxia is an exceptionally rare form of ataxia, caused by mutations in the ANO10 gene and the specific genotype–phenotypecorrelation…Oculomotor Abnormalities in Spinocerebellar Ataxia Type-12: A Functional Neuroimaging Study
Objective: This study aimed to investigate eye movements, specifically dysmetric saccades and cerebellar nystagmus, in Spinocerebellar Ataxia Type-12 (SCA12) using functional magnetic resonance imaging (fMRI)…Hierarchical Machine Learning Classification of Parkinsonian Disorders using Saccades
Objective: To evaluate the discriminative power of a novel saccade waveform reconstruction approach compared to conventional saccadic metrics in differentiating Parkinson's disease (PD), progressive supranuclear…4-Aminopyridine improves downbeat nystagmus in SCA27b: A case report
Objective: To assess objective clinical improvement in video-oculography in a patient with SCA27b on 4-aminopyridine (4-AP) treatment. Background: Spinocerebellar ataxia 27b (SCA27b; MIM 620174) is…Opsoclonus after Covid-19 infection
Objective: Describe the first Brazilian case of opsoclonus due to COVID-19 infection Background: Opsoclonus-myoclonus is a rare movement disorder associated with a variety of conditions,…Oculomotor Biomarkers for Cerebellar Ataxia and Severity in Smooth Pursuit
Objective: Our research utilizes the technique of brief linear smooth pursuit of a moving target, to derive various parameters. These parameters are then analyzed to…Movement Disorders In Children With Monoamine Neurotransmitter Disorders
Objective: To describe clinical, para-clinical, therapeutic and evolutionary characteristics of movement disorders (MD) and oculogyric crises (OC) in children with monoamine neurotransmitter disorders (MND) Background:…Differences in Oculometric Measures between Patients with LRRK2-associated and Idiopathic Parkinson’s Disease
Objective: To examine the use of oculometric measures (OMs) as a tool to differentiate patients with Leucine-Rich Repeat Kinase (LRRK2) - associated (L2PD) and idiopathic…A Unique case of Ataxia, Neuropathy, and chronic cough: CANVAS
Objective: We describe a unique case of a 68-year-old man with chronic ataxia, spasmodic cough, neuropathy and hearing loss who was initially felt to have…Linear Mixed-Effect Modelling of Antisaccades in Parkinson’s Disease and Progressive Supranuclear Palsy
Objective: This study aims to investigate variations in antisaccade parameters (latency, damping ratio, peak velocity, and amplitude) among different stages of Parkinson's Disease (PD), Progressive…
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