Creutzfeldt-Jakob disease associated with a missense mutation at codon 200 of the prion protein gene in Brazil
نویسندگان
چکیده
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.
منابع مشابه
Inherited prion disease (PrP lysine 200) in Britain: two case reports.
OBJECTIVE To identify cases of inherited prion diseases in Britain and to assess their phenotypic features. DESIGN Screening study of patients suspected clinically to have Creutzfeldt-Jakob disease and other neurodegenerative diseases by prion protein gene analysis. SETTING Biochemical research department. SUBJECTS Patients suspected to have Creutzfeldt-Jakob disease and other neurodegene...
متن کاملFamilial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene.
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. Electroen...
متن کاملAssociation of a null allele of SPRN with variant Creutzfeldt–Jakob disease
BACKGROUND No susceptibility genes have been identified in human prion disase, apart from the prion protein gene (PRNP). The gene SPRN, encodes Shadoo (Sho, shadow of prion protein) which has protein homology and possible functional links with the prion protein. METHODS A genetic screen was carried out of the open reading frame of SPRN by direct sequencing in 522 patients with prion disease, ...
متن کاملCodon 129 polymorphism of the PRNP gene in normal Polish population and in Creutzfeldt-Jakob disease, and the search for new mutations in PRNP gene.
Polymorphism at codon 129 of the prion protein gene (PRNP) is implicated both in susceptibility and phenotype of human prion diseases. We characterized the valine and methionine allele frequency at codon 129 in 109 individuals representing the normal Polish population and in 15 Polish CJD cases. The distribution of the genotype was 45% Met/Met, 39% Met/Val, and 16% Val/Val in the control group ...
متن کاملProspective 10-year surveillance of human prion diseases in Japan.
We analysed the epidemiological data and clinical features of patients with prion diseases that had been registered by the Creutzfeldt-Jakob Disease Surveillance Committee, Japan, over the past 10 years, since 1999. We obtained information on 1685 Japanese patients suspected as having prion diseases and judged that 1222 patients had prion diseases, consisting of definite (n=180, 14.7%) and prob...
متن کامل