Progressive supranuclear palsy 1 (PSNP1) is one of a number of inherited neurodegenerative disorders associated with aggregation of tau protein in the brain; PSNP1 exhibits autosomal dominant inheritance. Experiments done in flies using the human MAPT gene (microtubule-associated protein tau) and the orthologous Drosophila tau gene are described in the reports titled 'tauopathies, MAPT-related' (FBhh0000101) and 'frontotemporal dementia with parkinsonism 17' (FBhh0000111).
Many different UAS constructs of the Hsap\MAPT gene have been introduced into flies, including wild-type MAPT and genes carrying mutational lesions implicated in disease. Although some researchers categorize all pathologies associated with variants of MAPT as one disease spectrum, others indicate specific variants as implicated in progressive supranuclear palsy 1. Variant(s) implicated in this human disease tested (as transgenic human gene, MAPT): the variant forms R5L, P618L (P301L), and S669L (S352L) have been introduced into flies. The P618L (P301L) variant of MAPT is described as implicated in both frontotemporal dementia (FTDP-17) and progressive supranuclear palsy 1.
[updated Aug. 2019 by FlyBase; FBrf0222196]
[SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1](https://omim.org/entry/601104)
[MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT](https://omim.org/entry/157140)
Symptoms of progressive supranuclear palsy 1 (PSNP1) resemble those of Parkinson disease (parkinsonism), include resting tremor, muscular rigidity, bradykinesia [abnormal slowness of movement], postural instability, and cognitve decline; supranuclear gaze palsy [inability to look in a particular direction] is also characteristic. [from MIM:601104; 2016.01.11]
Heterozygous mutations in the MAPT gene have been implicated in PSNP1. [from MIM:601104; 2016.01.11]
Neuropathologically, the disorder is characterized by abundant neurofibrillary tangles, which differ in both distribution and composition from those associated with Alzheimer disease; the tangles are primarily localized to subcortical regions and are found in both neurons and glia. [from MIM:601104; 2016.01.11]
Many to one: 3 human to 1 Drosophila. Three human genes, MAPT, MAP2 and MAP4, are orthologous to the fly gene Dmel\tau.