An autopsy case of MM2-thalamic subtype of sporadic Creutzfeldt-Jakob disease with Lewy bodies presenting as a sleep disorder mimicking anti-IgLON5 disease

A thalamic form of MM2 (methionine homozygosity at codon 129 with type 2 abnormal prion protein)-type sporadic Creutzfeldt-Jakob disease (MM2-thalamic-sCJD) is a rare prion-related disorder characterized by prominent insomnia, progressive psychomotor hyperactivity, and cognitive impairment [1]. This phenotype lacks ante-mortem clinical, laboratory or imaging diagnostic markers; an electroencephalogram (EEG) or brain MRI is often unremarkable, and 14-3-3 protein or altered prion protein is usually not detected in cerebrospinal fluid (CSF).

Source: Journal of the Neurological Sciences - July 9, 2019 Category: Neurology Authors: Yu Hongo, Takahiro Iizuka, Atsushi Kaneko, Hiroki Suga, Akiko Uchino, Shigeo Murayama, Kazuyoshi Namba, Yuichi Inoue, Kazutoshi Nishiyama Tags: Letter to the Editor Source Type: research