Genetic topography and cortical cell loss in Huntington's disease link development and neurodegeneration.

ABSTRACT: Cortical cell loss is a core feature of Huntington's disease (HD), beginning many years before clinical motor diagnosis, during the premanifest stage. However, it is unclear how genetic topography relates to cortical cell loss. Here, we explore the biological processes and cell types underlying this relationship and validate these using cell-specific post-mortem data. Eighty premanifest participants on average 15 years from disease onset and 71 controls were included. Using volumetric and diffusion MRI we extracted HD-specific whole brain maps where lower grey matter volume and higher grey matter mean diffusivity, relative to controls, were used as proxies of cortical cell loss. These maps were combined with gene expression data from the Allen Human Brain Atlas (AHBA) to investigate the bi

SUBMITTER: Estevez-Fraga C 

PROVIDER: S-EPMC10629790 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature