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. 2006 May 1;398(1-2):83-4.
doi: 10.1016/j.neulet.2005.12.056. Epub 2006 Jan 23.

CHMP2B mutations are not a common cause of frontotemporal lobar degeneration

Ashley Cannon  1 , Matthew Baker, Brad Boeve, Keith Josephs, David Knopman, Ron Petersen, Joseph Parisi, Dennis Dickison, Jennifer Adamson, Julie Snowden, David Neary, David Mann, Mike Hutton, Stuart M Pickering-Brown
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CHMP2B mutations are not a common cause of frontotemporal lobar degeneration

Ashley Cannon et al. Neurosci Lett. .

Abstract

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 determine whether CHMP2B mutations are a common cause of disease in patients with frontotemporal lobar degeneration (FTLD) we sequenced all exons and flanking regions of CHMP2B in 141 familial FTLD probands from the USA and UK. We failed to find a single pathogenic variant in any case. Polymorphisms were detected but were present in control samples. We conclude that mutations in CHMP2B are a rare cause of familial FTLD and may be specific to the Danish pedigree.

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