| Autor: |
Smid J; Behavioral and Cognitive Neurology Unit, Departament of Neurology, University of São Paulo School of Medicine., Martins VR; Ludwig Institute for Cancer Research, Hospital Alemão Oswaldo Cruz, São Paulo., Landemberger MC; Ludwig Institute for Cancer Research, Hospital Alemão Oswaldo Cruz, São Paulo., Riva D; São Paulo Syrian-Lebanese Hospital., Anghinah R; Behavioral and Cognitive Neurology Unit, Departament of Neurology, University of São Paulo School of Medicine., Nitrini R; Behavioral and Cognitive Neurology Unit, Departament of Neurology, University of São Paulo School of Medicine. |
| Jazyk: |
angličtina |
| Zdroj: |
Dementia & neuropsychologia [Dement Neuropsychol] 2007 Apr-Jun; Vol. 1 (2), pp. 222-224. |
| DOI: |
10.1590/s1980-57642008dn10200017 |
| Abstrakt: |
Genetic Creutzfeldt-Jakob disease (gCJD) represents less than 15% of CJD cases, and its clinical picture may be either indistinguishable from that of sporadic CJD (sCJD) or be atypical, usually with younger onset and longer duration. We report a case of 59-year old Brazilian man who presented rapidly progressive cognitive decline and cerebellar ataxia. EEG revealed periodic activity. A brother and a cousin of the patient had CJD. A point mutation at codon 200 (E200K) of the prion protein gene (PRNP) was found and death occurred 11 months after onset of symptoms. Autopsy was not performed. The clinical presentation of gCJD associated with E200K, which is the most frequent PRNP mutation, is quite similar to sCDJ. This is the first report of E200K mutation in Brazil, and it is possible that a more systematic search for its occurrence may show it to be relatively frequent in Brazil. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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