XB-ART-47259
Cold Spring Harb Perspect Med
2012 Feb 01;22:a006254. doi: 10.1101/cshperspect.a006254.
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Frontotemporal dementia: implications for understanding Alzheimer disease.
Goedert M
,
Ghetti B
,
Spillantini MG
.
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Frontotemporal dementia (FTD) comprises a group of behavioral, language, and movement disorders. On the basis of the nature of the characteristic protein inclusions, frontotemporal lobar degeneration (FTLD) can be subdivided into the common FTLD-tau and FTLD-TDP as well as the less common FTLD-FUS and FTLD-UPS. Approximately 10% of cases of FTD are inherited in an autosomal-dominant manner. Mutations in seven genes cause FTD, with those in tau (MAPT), chromosome 9 open reading frame 72 (C9ORF72), and progranulin (GRN) being the most common. Mutations in MAPT give rise to FTLD-tau and mutations in C9ORF72 and GRN to FTLD-TDP. The other four genes are transactive response-DNA binding protein-43 (TARDBP), fused in sarcoma (FUS), valosin-containing protein (VCP), and charged multivesicular body protein 2B (CHMP2B). Mutations in TARDBP and VCP give rise to FTLD-TDP, mutations in FUS to FTLD-FUS, and mutations in CHMP2B to FTLD-UPS. The discovery that mutations in MAPT cause neurodegeneration and dementia has important implications for understanding Alzheimer disease.
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G0301152 Medical Research Council , MC_U105184291 Medical Research Council , MRC_G0301152 Medical Research Council , MRC_MC_U105184291 Medical Research Council
Species referenced: Xenopus
Genes referenced: c1h9orf72 chmp2b fus grn mapt tardbp vcp
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