Catalog

Thalamic sporadic Creutzfeldt-Jakob Disease

No MMS code

Link to WHO Definition

Thalamic sporadic Creutzfeldt-Jakob Disease – http://id.who.int/icd/entity/1363394816

One of the few sub-types of sCJD, Thalamic sporadic Creutzfeldt-Jakob (sCJD) is characterised by severe involvement of the thalamus and inferior olivary nucleus with clinical features of predominant autonomic impairment such as insomnia like fatal familial insomnia (FFI). Magnetic resonance imaging (diffusion weighted imaging), cerebrospinal fluid, and electroencephalogram do not show characteristic features. Single photon emission computed tomography (SPECT) and positron emission tomography (PET) reveals hypometabolism of the thalamus. The accumulated prion protein is MM2 (MM2-thalamic) which means there is a type 2 abnormal prion protein with methionine homozygote at codon 129 polymorphic site of prion protein gene.