Frontotemporal dementia (FTD) is one of a number of inherited neurodegenerative disorders associated with aggregation of tau protein in the brain. Experiments done in flies using the human tau gene (MAPT, microtubule-associated protein tau) and the orthologous Drosophila tau gene are described in reports titled 'frontotemporal dementia with parkinsonism 17' (FBhh0000111) and 'tauopathies, MAPT-related' (FBhh0000101).
Less commonly, a second human gene, PSEN1, is implicated in FTD; PSEN1 has been implicated in several other human diseases (see MIM:104311), including Alzheimer disease 3 (AD3, FBhh0000120), Pick disease (FBhh0000112), and dilated cardiomyopathy 1U (CMD1U, FBhh0000154).
[updated May 2018 by FlyBase; FBrf0222196]
[FRONTOTEMPORAL DEMENTIA 1; FTD1](https://omim.org/entry/600274)
Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration. Effects upon speech are commonly observed; symptoms include loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output, specific loss of comprehension of language and impaired facial and object recognition. There is relative preservation of memory, at least in the early stages. [from MIM:600274; 2016.01.11]
The most commonly identified genetic cause of FTD is heterozygous mutation in the the MAPT gene; mutations in the PSEN1 gene have also been implicated in the disease. [from MIM:600274; 2016.01.11]
Upon pathological examination, frontotemporal lobar degeneration is observed; frequently characterized by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. Neuropathologic examination of 124 individuals diagnosed with FTD showed that 46% had a tauopathy, 29% had frontotemporal lobar degeneration with ubiquitin inclusions, and 17% had findings consistent with Alzheimer disease (Forman et al. 2006; pubmed:16718704). [from MIM:600274; 2016.01.08]
