Article
Genome wide association study of clinical duration and age at onset of sporadic CJD.
PloS one - 1 Jan 2024
Hummerich Holger, Speedy Helen, Campbell Tracy, Darwent Lee, Hill Elizabeth, Collins Steven, Stehmann Christiane, Kovacs Gabor G, Geschwind Michael D, Frontzek Karl, Budka Herbert, Gelpi Ellen, Aguzzi Adriano, van der Lee Sven J, van Duijn Cornelia M, Liberski Pawel P, Calero Miguel, Sanchez-Juan Pascual, Bouaziz-Amar Elodie, Laplanche Jean-Louis, Haïk Stéphane, Brandel Jean-Phillipe, Mammana Angela, Capellari Sabina, Poleggi Anna, Ladogana Anna, Pocchiari Maurizio, Zafar Saima, Booth Stephanie, Jansen Gerard H, Areškevičiūtė Aušrinė, Løbner Lund Eva, Glisic Katie, Parchi Piero, Hermann Peter, Zerr Inga, Appleby Brian S, Safar Jiri, Gambetti Pierluigi, Collinge John, Mead Simon
Abstract excerpt
Human prion diseases are rare, transmissible and often rapidly progressive dementias. The most common type, sporadic Creutzfeldt-Jakob disease (sCJD), is highly variable in clinical duration and age at onset. Genetic determinants of late onset or slower progression might suggest new targets for research and therapeutics. We assembled and array genotyped sCJD cases diagnosed in life or at autopsy. Clinical...
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