Tau protein in frontotemporal dementia linked to chromosome 3 (FTD-3).
Recent work on frontotemporal dementia (FTD) has revealed the existence of at least 3 genetically distinct groups of inherited FTD: FTDP-17, FTD and motor neuron disease linked to chromosome 9, and FTD linked to chromosome 3 (FTD-3). Tau, on chromosome 17, is the only gene where mutations have been identified and its involvement in FTD has been firmly established. The genes on chromosome 9 and chromosome 3 associated with familial forms of FTD remain to be identified. Abnormal aggregates of tau protein characterize the brain lesions of FTDP-17 patients and ubiquitin inclusions have been found in FTD with motor neuron disease linked to chromosome 9. In this study the frontal cortices of 3 FTD-3 patients from a unique Danish family were examined for characteristic neuropathological features. In these brains tau inclusions were present in neurons and some glial cells in the absence of beta-amyloid deposits. The presence of filamentous tau protein in the frontal cortex of these patients suggests a possible link between tau and the genetic defect present on chromosome 3 and associated with FTD-3, although the limited amount of tau deposits observed makes it difficult to define this as a tauopathy.
D000368:Aged; D016229:Amyloid beta-Peptides / Q000378:metabolism; D002893:Chromosomes, Human, Pair 3; D003704:Dementia / Q000145:classification / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D005192:Family Health; D005625:Frontal Lobe / Q000378:metabolism / Q000648:ultrastructure; D008040:Genetic Linkage; D006801:Humans; D015151:Immunoblotting / Q000379:methods; D007150:Immunohistochemistry / Q000379:methods; D016253:Microscopy, Immunoelectron / Q000295:instrumentation / Q000379:methods; D008875:Middle Aged; D016900:Neurofilament Proteins / Q000378:metabolism; D009474:Neurons / Q000166:cytology / Q000378:metabolism; D009836:Oligodendroglia / Q000378:metabolism; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D012269:Ribosomal Proteins / Q000378:metabolism; D016875:tau Proteins / Q000378:metabolism*
D016229:Amyloid beta-Peptides; D016900:Neurofilament Proteins; D020033:Protein Isoforms; D012269:Ribosomal Proteins; C040469:ribosomal protein S30; D016875:tau Proteins