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Article

First case of V180I rare mutation in a Brazilian patient with Creutzfeldt-Jakob disease.

Prion - 2 Nov 2017

De Souza Ricardo Krause Martinez, Josviak Nalini Drieli, Batistela Meire Silva, Santos Paulo Sergio Faro, Landemberger Michele Christine, Ramina Ricardo

Abstract excerpt

Here, we report the first case of V180I rare mutation in a Brazilian woman whose clinical condition started with memory impairment for recent events and insomnia with 2 months of evolution, without any other alterations in neurological examination. Both the electroencephalogram (EEG) and the routine biochemical examination of cerebrospinal fluid (CSF) were normal. CSF 14-3-3 protein search was positive. Magnetic...

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Identifiers

PMID: 29095671
DOI: 10.1080/19336896.2017.1397869
PMCID: PMC5786352

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PRNP

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