Thalamic sporadic Creutzfeldt-Jakob Disease (Q85585): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed an Item |
||||||||||||||
| (6 intermediate revisions by the same user not shown) | |||||||||||||||
| description / pt-br | description / pt-br | ||||||||||||||
Um dos poucos subtipos de DCJe, Creutzfeldt-Jakob talâmica esporádica (DCJe) é caracterizado pelo envolvimento grave do tálamo e do núcleo olivar inferior com características clínicas de comprometimento autonômico predominante, como insônia, na insônia familiar fatal (FFI). A imagem por ressonância magnética (imagem ponderada por difusão), líquido cefalorraquidiano e eletroencefalograma não mostram características características. A tomografia computadorizada por emissão de fóton único (SPECT) e a tomografia por emissão de pósitrons (PET) revelam hipometabolismo do tálamo. A proteína priônica acumulada é MM2 (MM2-talâmica), o que significa que há uma proteína priônica anormal do tipo 2 com homozigoto de metionina no local polimórfico do códon 129 do gene da proteína priônica. | |||||||||||||||
| description / en | description / en | ||||||||||||||
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. | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/1363394816 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_1363394816 | |||||||||||||||
| Property / CURIE: CID11:ID_1363394816 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_1363394816 | |||||||||||||||
| Property / Canary Token: dki-india-ID_1363394816 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
13 August 2026
| |||||||||||||||
| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest 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 |
||
| 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. |
Statements
CID11:ID_1363394816
0 references
dki-india-ID_1363394816
0 references
Concluído
0 references
13 August 2026
0 references
