RESUMEN
Immune-mediated cerebellar ataxias were initially described as a clinical entity in the 1980s, and since then, an expanding body of evidence has contributed to our understanding of this topic. These ataxias encompass various etiologies, including postinfectious cerebellar ataxia, gluten ataxia, paraneoplastic cerebellar degeneration, opsoclonus-myoclonus-ataxia syndrome and primary autoimmune cerebellar ataxia. The increased permeability of the brain-blood barrier could potentially explain the vulnerability of the cerebellum to autoimmune processes. In this manuscript, our objective is to provide a comprehensive review of the most prevalent diseases within this group, emphasizing clinical indicators, pathogenesis, and current treatment approaches.
Asunto(s)
Ataxia Cerebelosa , Síndrome de Opsoclonía-Mioclonía , Humanos , Ataxia Cerebelosa/etiología , Ataxia Cerebelosa/patología , Ataxia/diagnóstico , Ataxia/etiología , Cerebelo/patología , Síndrome de Opsoclonía-Mioclonía/patologíaAsunto(s)
Ataxia Cerebelosa , Glútenes , Ataxia , Ataxia Cerebelosa/diagnóstico , Glútenes/efectos adversos , HumanosAsunto(s)
Enfermedad de Machado-Joseph/patología , Enfermedades de la Retina/diagnóstico por imagen , Enfermedades de la Retina/patología , Adolescente , Ataxina-3/genética , Femenino , Humanos , Enfermedad de Machado-Joseph/complicaciones , Enfermedad de Machado-Joseph/genética , Proteínas Represoras/genética , Enfermedades de la Retina/complicaciones , Tomografía de Coherencia Óptica , Expansión de Repetición de Trinucleótido/genéticaRESUMEN
Researchers from the Rett Syndrome Natural History Study (RNHS) present longitudinal data across the United States of America aimed to characterize hand stereotypies (HS) in this large cohort of patients with Rett syndrome.