Frontotemporal dementia caused by CHMP2B mutations
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Frontotemporal dementia caused by CHMP2B mutations. / Isaacs, A M; Johannsen, P; Holm, I; Nielsen, J E; FReJA Consortium.
I: Current Alzheimer Research, Bind 8, Nr. 3, 05.2011, s. 246-51.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Frontotemporal dementia caused by CHMP2B mutations
AU - Isaacs, A M
AU - Johannsen, P
AU - Holm, I
AU - Nielsen, J E
AU - FReJA Consortium
PY - 2011/5
Y1 - 2011/5
N2 - 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.
AB - 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.
KW - Amino Acid Sequence
KW - Endosomal Sorting Complexes Required for Transport
KW - Frontotemporal Dementia
KW - Humans
KW - Molecular Sequence Data
KW - Mutation
M3 - Journal article
C2 - 21222599
VL - 8
SP - 246
EP - 251
JO - Current Alzheimer Research
JF - Current Alzheimer Research
SN - 1567-2050
IS - 3
ER -
ID: 38426019