A Case report of Progressive Supranuclear Palsy with Cerebellar Ataxia and Chorea
Objective: To report a case of progressive supranuclear palsy cerebellar type (PSP-C) with choreiform movements. Background: PSP-C is a rare subtype of PSP characterized by…A Longitudinal Case of Adult-Onset Progressive Ataxia in a Patient with a Pathogenic Variant of IRF2BPL
Objective: To describe the course of a patient with an inherited IRF2BPL variant presenting as adult-onset indolent ataxia and tremor with no prior developmental abnormalities,…Anti-IgLON5 Encephalitis Presenting as Chronic Progressive Asymmetrical Ataxia and Chorea
Objective: To report a case of gait instability and progressive asymmetrical chorea clinically confirmed as anti-IgLON5 encephalitis. Background: Anti-IgLON5 encephalitis is a rare autoimmune neurological…Hyperemesis Gravidarum Induced Wernicke’s Encephalopathy: A Case Report
Objective: This report aims to bring awareness of Hyperemesis Gravidarum induced Wernicke’s Encephalopathy as a rare cause of ataxia. Background: Wernicke’s Encephalopathy is a neuropsychiatric…Genetic Ataxias in Argentina
Objective: To determine the occurrence and frequency of genetic ataxias in Argentina. Background: Genetic ataxias comprise hundreds of disorders with significant phenotypic, genetic, and epidemiological…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…Ataxia, the initial symptom in a patient with Huntington’s Disease and Acquired (non-Wilsonian) Hepatocerebral Degeneration
Objective: To describe a patient with Huntington disease and acquired (non-Wilsonian) hepatocerebral degeneration (AHD) presenting with ataxia. Background: AHD is a neurological disorder that occurs…Chorea as the initial presentation of Erdheim-Chester disease
Objective: to describe clinical and radiological findings, and disease progression in a patient with Erdheim-Chester disease (ECD) initially presenting with chorea. Background: ECD is a…Spastic Paraplegia as a Novel Phenotype in Late Adulthood Onset POLG Disease: A Pathophysiological Continuum?
Objective: We report a case of late adult onset gradually progressive spastic paraplegia secondary to pathogenic variants in the POLG gene. Background: Many pathogenic mutations…The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights
Objective: Mutations in the GOSR2 gene are associated with North Sea-Progressive Myoclonus Epilepsy (NS-PME). Because more recently additional phenotypes have been described we systematically reviewed…
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