Genetic prion disease – fatal familial insomnia (clinical case)
Background. Fatal familial insomnia is a rare genetically determined neurodegenerative disorder from the group of prion diseases. Its main cause is the autosomal dominant D178N mutation of the PRNP gene, which leads to the synthesis of the pathological prion protein PrP.The aim. Using the example of...
| Published in: | Acta Biomedica Scientifica |
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| Main Authors: | , , , , |
| Format: | Article |
| Language: | Russian |
| Published: |
Scientific Сentre for Family Health and Human Reproduction Problems
2024-07-01
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| Subjects: | |
| Online Access: | https://www.actabiomedica.ru/jour/article/view/4818 |