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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Veröffentlicht in:	Movement disorders clinical practice (Hoboken, N.J.) N.J.), 2016-07, Vol.3 (4), p.355-358
Hauptverfasser:	Umeh, Chizoba C., Kalakoti, Piyush, Greenberg, Michael K., Notari, Silvio, Cohen, Yvonne, Gambetti, Pierluigi, Oblak, Adrian L., Ghetti, Bernardino, Mari, Zoltan
Format:	Artikel
Sprache:	eng
Schlagworte:	Clinico‐Pathological Case dystonia Genes Gerstmann-Sträussler-Scheinker disease Mutation parkinsonism prion protein proline-to-leucine substitution at codon 102 (P102L) mutation Rodents
Online-Zugang:	Volltext
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