Brainstem Subsegmentation in Spinocerebellar Ataxia Type 3 (SCA3)
Objective: The aim of our work is to create a novel protocol for manual subsegmentation of the human brainstem for creating accurate brainstem labels for…Genetic Profile of Cerebellar Ataxias in Patients from a Reference Center in Brazil
Objective: To describe the genetic profile of patients with cerebellar ataxias followed in a neurogenetics reference center in Brazil Background: Cerebellar ataxias comprise a heterogeneous…A case of ataxia and muscle stiffness in EEF2 gene mutation with associated anti-GAD antibodies
Objective: Here we present a case of ataxia and muscle stiffness in a person with variant EEF2 gene mutation with associated anti-GAD antibodies along with…Assessment of mitochondrial DNA copy number and common deletion (del4977) as candidate peripheral biomarkers for Spinocerebellar ataxia type 2
Objective: Assessing the relevance of mtDNA copy number (mtDNAcn) and its common deletion (del4977) as candidate peripheral biomarkers for Spinocerebellar ataxia type 2 (SCA2). Background:…From Explainable AI to Biomarkers: Identifying Disease-Related Brain Regions in Spinocerebellar Ataxia Type 3
Objective: This study aims to classify healthy control (HC) participants, pre-symptomatic Spinocerebellar Ataxia Type 3 (SCA3) patients (preSCA3), and symptomatic SCA3 patients (SCA3) by processing…Spinocerebellar Ataxia Recessive Type 7 (SCAR7) in a Consanguineous Family: A Case Report
Objective: Spinocerebellar ataxia autosomal recessive type 7 (SCAR7) is a rare disorder caused by biallelic pathogenic variants in TPP1. It usually manifests in childhood or…A Case Report of Two Affected Siblings with Spinocerebellar Ataxia Type 1
Objective: To present a case of two affected siblings with Spinocerebellar ataxia type 1 Background: Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative…Turning Points in Disease Progression: Detecting MRI Biomarker Transitions in SCA3 Using Longitudinal Data
Objective: This study aims to identify data-driven turning points in MRI biomarkers of SCA3 to characterize region-specific disease transitions and inform early intervention strategies. Background: SCA3…Brain Structural Impairment in Spinocerebellar Ataxia Type 6: Not Restricted to the Cerebellum
Objective: To characterize the structural brain signature in SCA6 patients. Background: Spinocerebellar ataxias (SCA) refer to a group of autosomal dominant ataxic disorders that result…Progressive Ataxia in a Young Patient: Atypical Presentation of a Probable Creutzfeldt-Jakob Disease Variant VV1
Objective: To report an unusual presentation of probable Creutzfeldt-Jakob disease (CJD) subtype VV1 in a 27-year-old man. Background: CJD is a rare prion neurodegenerative disorder…
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