A Case of CANVAS Misdiagnosed as Subacute Labyrinthitis and Meniere’s Disease
Objective: To report a case of CANVAS initially misdiagnosed as subacute labyrinthitis and Meniere’s disease, highlighting the diagnostic challenges and the importance of recognizing this…Novel SPTAN1 Variant in Adult-Onset Cerebellar Ataxia in Active Duty Military Member
Objective: The objective is to investigate the genetic basis of cerebellar ataxia and identify a novel variant associated with this condition in an active-duty military…Frequency and Phenotype of GAA-FGF14 Disease in Bilateral Vestibulopathy Syndromes: Insights from Repeat Expansion Carriers, Including a Dual Diagnosis with RFC1-Related CANVAS
Objective: To study the frequency and phenotype of GAA-FGF14 expansions in a large cohort of patients with bilateral vestibulopathy (BVP) syndromes. Background: Intronic GAA repeat expansions in FGF14 cause spinocerebellar ataxia…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…
- « Previous Page
- 1
- …
- 3
- 4
- 5
- 6
- 7
- …
- 31
- Next Page »