Variably protease sensitive prionopathy (Q51835): Difference between revisions
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Doença do cérebro, causada por mutação(ões) em genes da proteína priônica. Esta doença é caracterizada por deposição de príons anormais no cérebro, levando a alterações comportamentais e de humor, déficits de fala e deficiências motoras progressivas. A confirmação é feita por exame patológico do cérebro ou identificação de proteínas príon sensíveis à protease em uma amostra de cérebro. | |||
| description / en | description / en | ||
A disease of the brain, caused by a mutation(s) in prion protein genes. This disease is characterised by deposition of abnormal prions in the brain leading to behavioural and mood changes, speech deficits, and progressive motor impairments. Confirmation is by pathological examination of the brain or identification of protease-sensitive prion proteins in a brain sample. | |||
Revision as of 23:03, 13 August 2026
A disease of the brain, caused by a mutation(s) in prion protein genes. This disease is characterised by deposition of abnormal prions in the brain leading to behavioural and mood changes, speech deficits, and progressive motor impairments. Confirmation is by pathological examination of the brain or identification of protease-sensitive prion proteins in a brain sample.
| Language | Label | Description | Also known as |
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| default for all languages | 8000 |
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| English | Variably protease sensitive prionopathy |
A disease of the brain, caused by a mutation(s) in prion protein genes. This disease is characterised by deposition of abnormal prions in the brain leading to behavioural and mood changes, speech deficits, and progressive motor impairments. Confirmation is by pathological examination of the brain or identification of protease-sensitive prion proteins in a brain sample. |
