title: A patient with MV2 subtype of sporadic Creutzfeldt-Jakob disease and atypical clinical presentation.
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.
authors.affiliation: Biomedical Research Center-Neurological Tissue Bank of Navarra, Irunlarrea, 3, Pamplona, 31008, Navarra, Spain. dguerres@cfnavarra.es
authors.forename: D
authors.initials: D
authors.lastname: Guerrero
authors.forename: N
authors.initials: N
authors.lastname: Martínez-Velilla
authors.forename: M C
authors.initials: MC
authors.lastname: Caballero
authors.forename: M T
authors.initials: MT
authors.lastname: Mendióroz
authors.forename: T
authors.initials: T
authors.lastname: Tuñón
authors.forename: J
authors.initials: J
authors.lastname: Masdeu
authors.forename: A
authors.initials: A
authors.lastname: Rodríguez
authors.forename: J
authors.initials: J
authors.lastname: Armstrong
authors.forename: I
authors.initials: I
authors.lastname: Ferrer
mesh_terms: D000368:Aged; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis* / Q000209:etiology* / Q000378:metabolism; D005260:Female; D006801:Humans; D018620:PrPSc Proteins / Q000235:genetics / Q000378:metabolism*
chemical_list: D018620:PrPSc Proteins