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...

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Bibliographic Details
Published in:	Acta Biomedica Scientifica
Main Authors:	T. V. Sorokovikova, A. M. Morozov, A. N. Kryukova, S. A. Naumova, A. V. Mitropolskaya
Format:	Article
Language:	Russian
Published:	Scientific Сentre for Family Health and Human Reproduction Problems 2024-07-01
Subjects:	fatal familial insomnia prion diseases prion proteins neurodegeneration
Online Access:	https://www.actabiomedica.ru/jour/article/view/4818

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