法国格勒诺布尔大学Sandrine Humbert、索邦大学Alexandra Durr等研究人员合作发现亨廷顿舞蹈症可改变人类神经发育。2020年7月16日，《科学》在线发表了这一成果。

Title: Huntington’s disease alters human neurodevelopment

Author: Monia Barnat, Mariacristina Capizzi, Esther Aparicio, Susana Boluda, Doris Wennagel, Radhia Kacher, Rayane Kassem, Sophie Lenoir, Fabienne Agasse, Barbara Y. Braz, Jeh-Ping Liu, Julien Ighil, Aude Tessier, Scott O. Zeitlin, Charles Duyckaerts, Marc Dommergues, Alexandra Durr, Sandrine Humbert

Issue&Volume: 2020/07/16

Abstract: Abstract Although Huntington’s disease is a late-manifesting neurodegenerative disorder, both mouse studies and neuroimaging studies of presymptomatic mutation carriers suggest that Huntington’s disease might affect neurodevelopment. To determine whether this is actually the case, we examined tissue from human fetuses (13 weeks gestation) that carry the Huntington’s disease mutation. These tissues showed clear abnormalities in the developing cortex, including mislocalization of mutant huntingtin and junctional complex proteins, defects in neuroprogenitor cell polarity and differentiation, abnormal ciliogenesis, and changes in mitosis and cell cycle progression. We observed the same phenomena in Huntington’s disease mouse embryos, where we linked these abnormalities to defects in interkinetic nuclear migration of progenitor cells. Huntington’s disease thus has a neurodevelopmental component and is not solely a degenerative disease.

DOI: 10.1126/science.aax3338

Source: https://science.sciencemag.org/content/early/2020/07/15/science.aax3338