Gerstmann-Straüssler-Scheinker disease: Novel PRNP mutation and VGKC-complex antibodies

OBJECTIVE:To describe a unique case of Gerstmann-Straüssler-Scheinker (GSS) disease caused by a novel prion protein (PRNP) gene mutation and associated with strongly positive voltage-gated potassium channel (VGKC)-complex antibodies (Abs). METHODS:Clinical data were gathered from retrospective revie...

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Veröffentlicht in:	Neurology 2014-06, Vol.82 (23), p.2107-2111
Hauptverfasser:	Jones, Matthew, Odunsi, Sola, du Plessis, Daniel, Vincent, Angela, Bishop, Matthew, Head, Mark W, Ironside, James W, Gow, David
Format:	Artikel
Sprache:	eng
Schlagworte:	Antibodies - adverse effects Antibodies - blood Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Encephalitis - drug therapy Encephalitis - genetics Encephalitis - immunology Fatal Outcome Gerstmann-Straussler-Scheinker Disease - genetics Gerstmann-Straussler-Scheinker Disease - immunology Humans Male Medical sciences Middle Aged Mutation - genetics Neurology Pedigree Potassium Channels, Voltage-Gated - immunology Prion Proteins Prions - genetics
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