Focal sharp waves are a specific early-stage marker of the MM2-cortical form of sporadic Creutzfeldt-Jakob disease

Prion. 2020 Dec;14(1):207-213. doi: 10.1080/19336896.2020.1803516.

Abstract

Periodic sharp wave complexes (PSWCs), identified using electroencephalography, are observed in less than half of patients with the methionine homozygosity type 2 cortical (MM2c) form of sporadic Creutzfeldt-Jakob disease (sCJD), and only at a later stage of the disease. In this study, we identified early and specific markers on the electroencephalograms (EEGs) of patients with MM2c-sCJD. We retrospectively investigated the clinical records, EEGs, and magnetic resonance imaging (MRI) scans of patients diagnosed with sCJD and compared the EEG findings of MM2c-sCJD and MM1/classic sCJD groups. The records of six patients with MM2c-sCJD and eight with MM1/classic sCJD were included. The median ages of onset in the MM2c- and MM1/classic sCJD groups were 75.0 (range, 60-83) and 72.5 (range, 51-74) years, respectively, and the average durations between disease onset and the first EEG were 9.17 (range, 4-15) and 1.88 (range, 1-4) months, respectively. Focal sharp waves and/or focal spike-and-wave complexes in the brain regions corresponding with cortical hyperintensities on MRI scans were identified on the EEGs of patients with MM2c-sCJD in the early stages of disease progression. In contrast, EEGs of patients in the early stages of MM1/classic sCJD showed lateralized or generalized diffuse sharp waves and spike-and-wave complexes, which were not limited to cortical hyperintensities identified with MRI scans. Our findings indicate that focal sharp waves and/or focal spike-and-wave complexes on the EEGs of patients in the early phase of MM2c-sCJD are characteristic of the disease, suggesting the possible usefulness of this characteristic for early diagnosis.

Keywords: Electroencephalogram; MM2 cortical form; focal spike-and-wave complexes; periodic sharp wave complexes; sporadic Creutzfeldt-Jakob disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Biomarkers / analysis*
  • Cerebral Cortex / pathology
  • Creutzfeldt-Jakob Syndrome / diagnostic imaging*
  • Electroencephalography*
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged

Substances

  • Biomarkers

Supplementary concepts

  • Creutzfeldt-Jakob Disease, Sporadic

Grants and funding

This work was partly supported by a Grant-in-Aid from the Research Committee of Prion Disease and Slow Virus Infection of the Ministry of Health, Labour, and Welfare of Japan (TH and MY); a Grant-in-Aid from the Research Committee of Molecular Pathogenesis and Therapies for Prion Disease and Slow Virus Infection (TH and MY); and a Grant-in-Aid from the Research Committee of Surveillance and Infection Control of Prion Disease of the Ministry of Health, Labour, and Welfare of Japan (MY and NS)