Abstract
CHMP2B mutations are a rare cause of autosomal dominant frontotemporal dementia (FTD). The best studied example is frontotemporal dementia linked to chromosome 3 (FTD-3) which occurs in a large Danish family, with a further CHMP2B mutation identified in an unrelated Belgian familial FTD patient. These mutations lead to C-terminal truncations of the CHMP2B protein and we will review recent advances in our understanding of the molecular effects of these mutant truncated proteins on vesicular fusion events within the endosome-lysosome and autophagy degradation pathways. We will also review the clinical features of FTD caused by CHMP2B truncation mutations as well as new brain imaging and neuropathological findings. Finally, we collate the current data on CHMP2B missense mutations, which have been reported in FTD and motor neuron disease.
Keywords: Frontotemporal dementia, CHMP2B, endosome, lysosome, autophagy, brain imaging, neuropathology, CBD, FTLD-TDP, CHMP2BIntron5, CHMP2BDelta10, CHMP2BQ165X, lateral preponderance, MND, neurotransmitter receptors
Current Alzheimer Research
Title: Frontotemporal Dementia Caused by CHMP2B Mutations
Volume: 8 Issue: 3
Author(s): A. M. Isaacs, P. Johannsen, I. Holm, J. E. Nielsen and FReJA Consortium
Affiliation:
Keywords: Frontotemporal dementia, CHMP2B, endosome, lysosome, autophagy, brain imaging, neuropathology, CBD, FTLD-TDP, CHMP2BIntron5, CHMP2BDelta10, CHMP2BQ165X, lateral preponderance, MND, neurotransmitter receptors
Abstract: CHMP2B mutations are a rare cause of autosomal dominant frontotemporal dementia (FTD). The best studied example is frontotemporal dementia linked to chromosome 3 (FTD-3) which occurs in a large Danish family, with a further CHMP2B mutation identified in an unrelated Belgian familial FTD patient. These mutations lead to C-terminal truncations of the CHMP2B protein and we will review recent advances in our understanding of the molecular effects of these mutant truncated proteins on vesicular fusion events within the endosome-lysosome and autophagy degradation pathways. We will also review the clinical features of FTD caused by CHMP2B truncation mutations as well as new brain imaging and neuropathological findings. Finally, we collate the current data on CHMP2B missense mutations, which have been reported in FTD and motor neuron disease.
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Cite this article as:
M. Isaacs A., Johannsen P., Holm I., E. Nielsen J. and Consortium FReJA, Frontotemporal Dementia Caused by CHMP2B Mutations, Current Alzheimer Research 2011; 8 (3) . https://dx.doi.org/10.2174/156720511795563764
DOI https://dx.doi.org/10.2174/156720511795563764 |
Print ISSN 1567-2050 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5828 |
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