Felipe Correa-da-Silva, Jenny Carter, Xin-Yuan Wang, Rui Sun, Ekta Pathak, José Manuel Monroy Kuhn, Sonja C Schriever, Clarissa M Maya-Monteiro, Han Jiao, Martin J Kalsbeek, Pedro M M Moraes-Vieira, Johan J P Gille, Margje Sinnema, Constance T R M Stumpel, Leopold M G Curfs, Dirk Jan Stenvers, Paul T Pfluger, Dominik Lutter, Alberto M Pereira, Andries Kalsbeek, Eric Fliers, Dick F Swaab, Lawrence Wilkinson, Yuanqing Gao, Chun-Xia Yi
Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder of genetic etiology, characterized by paternal deletion of genes located at chromosome 15 in 70% of cases. Two distinct genetic subtypes of PWS deletions are characterized, where type I (PWS T1) carries four extra haploinsufficient genes compared to type II (PWS T2). PWS T1 individuals display more pronounced physiological and cognitive abnormalities than PWS T2, yet the exact neuropathological mechanisms behind these differences remain unclear...
March 31, 2024: Acta Neuropathologica