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

Abstract:

: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.

journal_name

Arq Neuropsiquiatr

authors

Huang N,Marie SK,Kok F,Nitrini R

doi

10.1590/s0004-282x2001000600017

subject

Has Abstract

pub_date

2001-12-01 00:00:00

pages

932-5

issue

4

eissn

0004-282X

issn

1678-4227

pii

S0004-282X2001000600017

journal_volume

59

pub_type

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