Thalamic sporadic Creutzfeldt-Jakob Disease (Q85585): Difference between revisions
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Revision as of 10:56, 15 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1363394816 |
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| English | Thalamic sporadic Creutzfeldt-Jakob Disease |
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. |
