Is there a genetic test for PSP?
To our knowledge, MAPT is currently the only gene for which clinical genetic testing for PSP is available. This means that if a person with PSP is found to have a disease-causing mutation in the MAPT gene, genetic testing of other family members for the same mutation in this gene may be available.
What is the MAPT gene?
The MAPT gene provides instructions for making a protein called tau. This protein is found throughout the nervous system, including in nerve cells (neurons) in the brain.
Is PSP familial?
Familial forms of PSP, classically thought to be a sporadic condition, have been increasingly recognized, and several families have been reported to carry MAPT mutations . However, a major genetic cause has never been identified for most familial PSP cases.
What is PSP in neurobiology?
Progressive supranuclear palsy (PSP) is a complex condition that affects the brain. Progressive means that the condition’s symptoms will keep worsening over time. Supranuclear refers to the region of the brain affected by the disorder — the section above 2 small areas called nuclei.
What is the life expectancy of someone with PSP?
Help from a speech and language therapist at an early stage can lower this risk for as long as possible. As a result of these complications, the average life expectancy for someone with PSP is around 6 or 7 years from when their symptoms start.
What produces tau protein?
Tau proteins are produced through alternative splicing of a single gene called MAPT (microtubule-associated protein tau). The proteins were discovered in Marc Kirschner’s laboratory at Princeton University in 1975.
Can supranuclear palsy be genetic?
In most cases, the genetic cause of progressive supranuclear palsy is unknown. Rarely, the disease results from mutations in the MAPT gene. Certain normal variations (polymorphisms) in the MAPT gene have also been associated with an increased risk of developing progressive supranuclear palsy.
Why does tau get Hyperphosphorylated?
This biological activity of tau is regulated by its degree of phosphorylation. In AD brain, tau is abnormally hyperphosphorylated. The hyperphosphorylation inhibits the activity of tau to promote microtubule assembly (Lindwall and Cole, 1984; Iqbal et al., 1986; Alonso et al., 1994).
What happened to the NCBI Map Viewer?
As described in that announcement, the Map Viewer web interface will be removed in one week on May 2, 2018. Map Viewer links will be redirected to the GDV home page. Map Viewer static data will remain on the NCBI FTP site. Please review details related to the FTP content in our February announcement.
How do I customize the NCBI sequence viewer browser view?
The center of the page contains an instance of the NCBI Sequence Viewer where tracks and track data is visualized. This GDV browser view can be customized in several ways. The caret arrow can be used to show or minimize each of the widgets on the left sidebar.
What is gengenome Data Viewer?
Genome Data Viewer. GDV is a genome browser supporting the exploration and analysis of more than 690 eukaryotic RefSeq genome assemblies.
What is the genome data viewer (GDV)?
The Genome Data Viewer (GDV) is now the main genome browser at NCBI replacing the Map Viewer, our original genome browser. GDV is a modern genome browser with essential improvements over Map Viewer. These include sequence-level details and an automated update process that keeps up with the rapid pace of genome sequencing, assembly and annotation.