Late-Onset Bulbar-Predominant Neurodegeneration Associated With a Truncating AFG3L2 Variant: Expanding the Clinical Spectrum of AFG3L2-Related Disease
Objective: To describe an atypical late-onset, bulbar-predominant neurodegenerative presentation associated with a heterozygous truncating AFG3L2 variant and contextualize this phenotype within the expanding spectrum of…Cerebellar Variant of Progressive Supranuclear Palsy: First Case Report from Peru
Objective: To describethe clinical and neuroimaging features of a patient with the cerebellar variant of Progressive Supranuclear Palsy (PSP-C) Background: Progressive supranuclear palsy (PSP)is a…Imbalance and falls in individuals with Hereditary Spastic Paraplegia
Objective: The aim of this systematic review is to assess imbalance and falls in patients with HSP through a systematic and comprehensive evaluation of the…Refractory Orthostatic Hypotension, Anterocollis Predominant Cervical Dystonia and Parkinsonism Associated with a Previously Undiscovered SYT14 Gene Mutation
Objective: We present a case of a patient with spinocerebellar ataxia symptoms associated with a previously unknown mutation of the SYT14 gene. Background: Spinocerebellar ataxias…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…
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