First case of V180I rare mutation in a Brazilian patient with Creutzfeldt-Jakob disease |
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| Authors: | Ricardo Krause Martinez De Souza Meire Silva Batistela Paulo Sergio Faro Santos Michele Christine Landemberger Ricardo Ramina |
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| Affiliation: | 1. Neurological Institute of Curitiba (INC), Department of Neurology, Curitiba, Paraná, Brazil;2. Pontifícia Universidade Católica do Paraná (PUCPR), School of Medicine, Curitiba, Paraná, Brazil;3. Hospital AC Camargo, International Research Center, S?o Paulo, S?o Paulo, Brazil |
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| 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). |
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| Keywords: | Creutzfeldt-Jakob disease V180I mutation V180I/129M haplotype |
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