Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene

Arquivos de Neuro-Psiquiatria

Nancy Huang¹  Suely K.n. Marie¹  Fernando Kok¹  Ricardo Nitrini¹ 

[1] ,University of São Paulo Faculty of Medicine Department of NeurologySão Paulo SP ,Brazil

关键词: familial Creutzfeldt-Jakob disease;    prion protein gene mutation;    codon 210;    14-3-3 protein;    doença de Creutzfeldt-Jakob familial;    codon 210;    gene da proteína priônica;    mutação;    proteína 14-3-3;   

DOI  :  10.1590/S0004-282X2001000600017

来源: SciELO

【 摘 要 】

Creutzfeldt-Jakob disease (CJD), the most known human prion disease, is usually sporadic but approximately 15% of the 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 CJD 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.

【 授权许可】

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