MM1+2C sporadic Creutzfeldt-Jakob disease presenting as rapidly progressive nonfluent aphasia

J Alzheimers Dis. 2014;39(1):13-7. doi: 10.3233/JAD-130350.

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.

Keywords: Aphasia; MM1+2C subtype; MM2 cortical subtype; prion; sporadic Creutzfeldt-Jakob disease.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Brain / pathology
  • Cerebellum / pathology*
  • Cerebral Cortex / pathology*
  • Creutzfeldt-Jakob Syndrome / cerebrospinal fluid
  • Creutzfeldt-Jakob Syndrome / complications*
  • Creutzfeldt-Jakob Syndrome / diagnosis
  • Creutzfeldt-Jakob Syndrome / pathology*
  • Disease Progression
  • Fatal Outcome
  • Frontal Lobe / pathology
  • Humans
  • Male
  • Neurologic Examination
  • Primary Progressive Nonfluent Aphasia / etiology*

Supplementary concepts

  • Creutzfeldt-Jakob Disease, Sporadic