A Novel SLC9A1 Mutation Associated with Cerebellar Ataxia and Sensorineural Hearing Loss
Objective: To report a novel genetic mutation in the SLC9A1 gene presenting with childhood onset ataxia and sensorineural hearing loss. Background: Lichtenstein-Knorr syndrome is a…Ataxia Telangiectasia Diagnosis in Lower-Middle-Income Countries: A Case Report
Objective: to describe clinical features and diagnostic tests in a patient with Ataxia Telangiectasia (AT) in Vietnam. Background: AT is a rare hereditary syndrome, the…Phenotypic Variability of PRNP and Related Movement Disorders
Objective: Delineation of clinical and genetic features of PRNP-related movement disorders in two families. Background: Genetic prion disease can have a variable and overlapping phenotypic presentation…Syllable-based speech characteristics as potential biomarker for differential diagnosis of Parkinson’s disease, multiple system atrophy, and cerebellar ataxia
Objective: To analyze syllable-based speech characteristics in patients with Parkinson’s disease (PD), multiple system atrophy (MSA), and cerebellar ataxia (CA) to determine if there 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,…Spastic Ataxia and Motorneuron disease as possible manifestations of ATP13A2 (PARK 9) variants
Objective: To describe 5 late-onset sporadic cases carrying either biallelic or monoallelic variants in ATP13A2, showing either spastic ataxia(Spatax) or primary lateral sclerosis (PLS) as…The Clinical Implication of Dysphagia in Patients with Multiple System Atrophy
Objective: This study aimed to explore the correlation between dysphagia and key clinical features in Multiple System Atrophy (MSA) patients, along with investigating the link…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…Satisfaction with telemedicine of patients with movement disorders on the Pacific coast of Colombia.
Objective: Determine the level of satisfaction with the telemedicine consultation of patients with movement disorders on the Pacific coast of Valle del Cauca, in Colombia,…Prevalence of Movement Disorders in Epilepsy Patients Taking Antiepileptics Drugs in a Tertiary Care Teaching Hospital in Nepal.
Objective: To assess the prevalence of movement disorders in epilepsy patients taking antiepileptics drugs. Background: A prospective longitudinal observational study was conducted for one year…
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