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

Prion
Ricardo Krause Martinez De SouzaRicardo Ramina

Abstract

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 resonance imaging (MRI) of the encephalon showed findings suggestive of Creutzfeldt-Jakob disease, confirmed by sequencing of PRNP gene that reveal V180I mutation also homozygosity for methionine at codon 129 (M129M).

References

Jun 17, 2005·Brain : a Journal of Neurology·Henriette J TschampaInga Zerr
Jan 5, 2006·European Journal of Human Genetics : EJHG·Simon Mead
Sep 22, 2010·Brain : a Journal of Neurology·Ichiro NozakiMasahito Yamada
May 23, 2014·Journal of Korean Medical Science·Byung-Hoon Jeong, Yong-Sun Kim
Jan 23, 2016·Science Translational Medicine·Eric Vallabh MinikelDaniel G MacArthur

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