Skibinski, G., Parkinson, N.J., Brown, J.M., Chakrabarti, L., Lloyd, S.L., Hummerich, H., Nielsen, J.E., Hodges, J.R., Spillantini, M.G., Thusgaard, T., Brandner, S., Brun, A., Rossor, M.N., Gade, A., Johannsen, P., Sørensen, S.A., Gydesen, S., Fisher, E.M.C., & Collinge, J. (2005). Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nature Genetics, 37, 806-808.
Abstract:We have previously reported a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). Here we identify a mutation in CHMP2B, encoding a component of the endosomal ESCRTIII complex, and show that it results in aberrant mRNA splicing in tissue samples from affected members of this family. We also describe an additional missense mutation in an unrelated individual with FTD. Aberration in the endosomal ESCRTIII complex may result in FTD and neurodegenerative disease