Article
CHMP2B mutations are not a common cause of frontotemporal lobar degeneration.
Neuroscience letters - 1 May 2006
Cannon Ashley, Baker Matthew, Boeve Brad, Josephs Keith, Knopman David, Petersen Ron, Parisi Joseph, Dickison Dennis, Adamson Jennifer, Snowden Julie, Neary David, Mann David, Hutton Mike, Pickering-Brown Stuart M
Abstract excerpt
It was reported in 1995 that a large Danish family with familial frontotemporal dementia (FTD) was linked to the pericentromeric region of chromosome 3. It has since been claimed that a mutation in the splice acceptor site of exon 6 of CHMP2B is the pathogenic variant in this family. In order to...
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