Clinicopathological Correlates in a PRNP P102L Mutation Carrier with Rapidly Progressing Parkinsonism‐Dystonia

Parkinsonism‐dystonia is rare in carriers of the prion protein (PrP) gene (PRNP) proline‐to‐leucine substitution at codon 102 (P102L mutation). The severity and distribution of PrP deposition may influence the clinical presentation. The authors present such clinicopathological correlation in a 56‐ye...

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Detalhes bibliográficos
Publicado no:Mov Disord Clin Pract
Main Authors: Umeh, Chizoba C., Kalakoti, Piyush, Greenberg, Michael K., Notari, Silvio, Cohen, Yvonne, Gambetti, Pierluigi, Oblak, Adrian L., Ghetti, Bernardino, Mari, Zoltan
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Clinico‐Pathological Case
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5015693/
https://ncbi.nlm.nih.gov/pubmed/27617269
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.12307
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