title: MM1+2C sporadic Creutzfeldt-Jakob disease presenting as rapidly progressive nonfluent aphasia.
abstract: We report a 77-year-old man, presenting with progressive aphasia as an initial symptom, who developed severe dementia over the course of 20 months. Frontal cortex PrPSc western blot was type 2 and codon 129 was MM; brain neuropathology showed cortical vacuoles with perivacuolar PrP immunostaining characteristic of MM2C. Cerebellum showed focal coarse, patchy staining in different sections of the molecular layer, diffuse fine punctuate and coarse PrP immunopositive deposits in the granule cell layer, and focal synaptic immunostaining in the molecular layer, suggestive of MM1+2C by histotyping. This clinical presentation has not yet been described in an MM1+2C subtype by histotyping.
authors.affiliation: Department of Cognitive Neurology, Neuropsychology and Neuropsychiatry, Institute for Neurological Research "Raul Carrea", FLENI, Buenos Aires, Argentina.
authors.forename: Ricardo F
authors.initials: RF
authors.lastname: Allegri
authors.affiliation: Laboratory for Memory Research, Hospital Abel Zubizarreta, GCBA. Buenos Aires, Argentina.
authors.forename: Leonardo
authors.initials: L
authors.lastname: Bartoloni
authors.affiliation: Department of Neuroimaging, Institute for Neurological Research "Raul Carrea", FLENI, Buenos Aires, Argentina.
authors.forename: Mónica
authors.initials: M
authors.lastname: Iturry
authors.affiliation: Department of Neuroimaging, Institute for Neurological Research "Raul Carrea", FLENI, Buenos Aires, Argentina.
authors.forename: Carlos
authors.initials: C
authors.lastname: Romero
authors.affiliation: Department of Neuropathology, Institute for Neurological Research "Raul Carrea", FLENI, Buenos Aires, Argentina.
authors.forename: Christián
authors.initials: C
authors.lastname: Begué
authors.affiliation: Department of Neuropathology, Institute for Neurological Research "Raul Carrea", FLENI, Buenos Aires, Argentina.
authors.forename: Gustavo
authors.initials: G
authors.lastname: Sevlever
authors.affiliation: Department of Neuropathology, Institute for Neurological Research "Raul Carrea", FLENI, Buenos Aires, Argentina.
authors.forename: Ana Lía
authors.initials: AL
authors.lastname: Taratuto
mesh_terms: D000368:Aged; D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000473:pathology*; D002540:Cerebral Cortex / Q000473:pathology*; D007562:Creutzfeldt-Jakob Syndrome / Q000134:cerebrospinal fluid / Q000150:complications* / Q000175:diagnosis / Q000473:pathology*; D018450:Disease Progression; D017809:Fatal Outcome; D005625:Frontal Lobe / Q000473:pathology; D006801:Humans; D008297:Male; D009460:Neurologic Examination; D057178:Primary Progressive Nonfluent Aphasia / Q000209:etiology*
keywords: Aphasia; MM1+2C subtype; MM2 cortical subtype; prion; sporadic Creutzfeldt-Jakob disease