Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease

A common presentation of inherited prion disease is Gerstmann-Sträussler-Scheinker syndrome, typically presenting with gait ataxia and painful dysaesthesiae in the legs evolving over 2–5 years. The most frequent molecular genetic diagnosis is a P102L mutation of the prion protein gene (PRNP). There...

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Detalles Bibliográficos
Autores principales: Rudge, Peter, Jaunmuktane, Zane, Hyare, Harpreet, Ellis, Matthew, Koltzenburg, Martin, Collinge, John, Brandner, Sebastian, Mead, Simon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391599/
https://www.ncbi.nlm.nih.gov/pubmed/30698738
http://dx.doi.org/10.1093/brain/awy358

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