Creutzfeldt-Jakob disease associated with a missense mutation at codon 200 of the prion protein gene in Brazil

Abstract

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.

Viral and Prion Infections Associated with Central Nervous System Syndromes in Brazil

“…The frequency of allele 129 is 46% MM, 48% MV, and 6% VV in the Brazilian population [ 238 ], suggesting higher susceptibility for the manifestation of the disease. In addition to the notified cases of sCJD, the following case reports have been published: One family with gCJD T183A mutation [ 239 ]; one patient with gCJD V210I mutation and 129M/M [ 240 ], one patient with gCJD E200K mutation and 129M/M [ 241 ], one patient with gCJD V180I mutation and 129M/M [ 242 ], and two probable cases of iCJD due to use of human growth hormone [ 243 , 244 ]. In the case of the very rare GSS disease, the study of two families with the P102L mutation in the PRNP gene was reported, representing seven cases in total: Four with 129M/V and two with 129M/M (molecular data was not obtained from one patient) [ 245 ].…”

Poliformismos do gene da proteína príon celular em pacientes com doença de Alzheimer

“…A mutação mais comum da gDCJ é a E200K, relatada em diversos países, inclusive no Brasil (Smid et al, 2007). A GSS está, mais comumente, associada à mutação P102L, também relatada em nosso meio (Smid et al, 2009 (Palmer et al, 1991;Windl et al 1996;Alperovitch et al, 1999;Glatzel et al, 2005;Wadsworth et al, 2004;Meade, 2006;Kaski et al, 2009 A homozigose para metionina em pacientes com doença de Wilson (degeneração hepatolenticular) está relacionada a maior gravidade dos sintomas neurológicos nos pacientes idosos, além início mais tardio da doença (Grubenbecher et al, 2006, Merle et al, 2006.…”