A patient with MV2 subtype of sporadic Creutzfeldt-Jakob disease and atypical clinical presentation.
Clin Neuropathol
; 27(6): 408-13, 2008.
Article
em En
| MEDLINE
| ID: mdl-19130739
ABSTRACT
We report the case of a 71-year-old woman with progressive dementia over the course of 4 years, characterized by prominent pyramidal signs and by the lack of ataxia and other cerebellar signs. Creutzfeldt-Jakob disease (CJD) was not suspected during the patient's life. Autopsy brain tissue showed severe spongiform encephalopathy with kuru-like, but not florid, plaques in neocortex and cerebellum. Massive synaptic diffuse and plaque-like PrP(Sc) deposition was found in the cerebral cortex, striatum, cerebellum and brainstem. Genetic analysis revealed no PRNP gene mutations and methionine/valine heterozygosity (MV) at codon 129. The pathogenic scrapie prion protein (PrP(Sc)) pattern detected by Western blot was Type 2. However, this pattern showed a single unglycosylated band in contrast to the doublet described for MV2 subtype of sCJD with kuru plaques. In summary, this is an autopsy case report of a particular presentation of MV2 subtype of sCJD.
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Base de dados:
MEDLINE
Assunto principal:
Síndrome de Creutzfeldt-Jakob
/
Proteínas PrPSc
Limite:
Aged
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article