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

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.

Role of Biomarkers for the Diagnosis of Prion Diseases: A Narrative Review

“…Among the other limitations, it should be noted that similar alterations have been described in other neurodegenerative dementias, such as Alzheimer's disease (AD) and Lewy body dementia (LBD), although less frequently. It is also noteworthy that the probability of detection of PSWC is much lower in other prionopathies, such as FFI or GSS, and even in the MV2, VV2 and MM2 forms of sCJD [3,17,19].…”

Role of Biomarkers for the Diagnosis of Prion Diseases

“…Among the other limitations, it should be noted that similar alterations have been described in other neurodegenerative dementias, such as Alzheimer's disease (AD) and Lewy body dementia (LBD), although less frequently. It is also noteworthy that the probability of detection of PSWC is much lower in other prionopathies such as FFI or GSS and even in MV2, VV2 and MM2 forms of sCJD [3,13,15].…”

Optimization of the RT-QuIC in prion disease diagnostic

“…. Depending on the sCJD subtype, the PSWC could be detected on the EEG in the very early stages of the disease (1-4 months after onset) in the case of the MM1/classic sCJD group (Figure5) or only in the later stages of the disease (27-58 months after onset), MM2C-sCJD group (Figure6)73 .…”