Autoimmune GFAP astrocytopathy as an Etiology of Opsoclonus-Myoclonus-Ataxia Syndrome
Objective: To report a case of opsoclonus-myoclonus-ataxia syndrome (OMAS) due to autoimmune GFAP astrocytopathy. Background: OMAS is associated with brainstem pathology. In adults, common causes…Clinical and epidemiological characterization of patients with cerebellar ataxia in a reference center in Northeastern Brazil
Objective: To describe the epidemiological and clinical characteristics of patients with cerebellar ataxia in a Movement Disorders outpatient clinic at a public reference center in…An Atypical Case of Ataxia and Hyperkinetic Movements
Objective: The objective of this case study is to highlight a rare neurological manifestation of Sjogren's disease. Background: The neurological manifestations of Sjogren’s disease can…Predictive clinical factors for the faster progression from idiopathic late-onset cerebellar ataxia to multiple system atrophy cerebellar type
Objective: Our study aims to investigate the clinical parameters associated with faster conversion from late-onset cerebellar ataxia (ILOCA) to multiple system atrophy cerebellar type (MSA-C)…Phenotypic, Genotypic, Imaging and Neuropsychological Profile of Friedreich Ataxia
Objective: 1. To characterise the phenotypic and genotypic spectrum of patients with Friedreich Ataxia2. To describe the imaging findings and to assess the neuropsychological profile…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…AOA1 Versus AOA2 : A Comparative Study Of A Tunisian Cohort
Objective: The aim of our study is to compare the epidemiological, clinical, paraclinical and follow-up features of AOA1 and AOA2 in order to identify distinctive…SCA27B, an Elusive Diagnosis with Effective Symptomatic Treatment: Two Cases of Late-Onset Progressive and Episodic Cerebellar Ataxia
Objective: We present two cases of late-onset progressive and episodic cerebellar ataxia with prolonged courses of complex diagnostic work-up and management prior to genetic Spinocerebellar…
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