期刊
ARQUIVOS DE NEURO-PSIQUIATRIA
卷 59, 期 4, 页码 932-935出版社
ASSOC ARQUIVOS NEURO- PSIQUIATRIA
DOI: 10.1590/S0004-282X2001000600017
关键词
familial Creutzfeldt-Jakob disease; prion protein gene mutation; codon 210; 14-3-3 protein
cases are familial. To date, seven CJD cases with codon 210 mutation (GTT to ATT) have been reported in the literature. We describe a case of a 57 year-old woman who presented gait disturbances and rapidly progressive dementia, leading to death four months after onset. Electroencephalogram revealed periodic activity, diffusion-weighted magnetic resonance imaging showed hypersignal in basal ganglia, and test for 14-3-3 protein was strongly positive in the CSF The complete prion protein gene coding region was, sequenced after PCR amplification, showing a point mutation in codon 210. This is the first case of CID with codon 210 mutation diagnosed in Brazil. We emphasize the role of genetic search for prion protein gene mutation, even in patients presenting clinical features resembling sporadic CJD.
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