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FTDP-17Frontotemporal Dementia With Parkinsonism Linked to Chromosome 17
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Rizzuet al., "Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17," Nature, vol.
Here we review the path from gene discovery to development of a clinical genetic test using frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) [1] as an example of a complex, rare genetic condition.
This linkage gave rise to the name frontotemporal dementia with parkinsonism linked to chromosome 17, or FTDP-17. The tau gene on chromosome 17 was a primary candidate gene because of the neuropathologic examination of brains in familial cases of FTD, which showed neuronal and glial intracytoplasmic tau inclusions.
The identification of tau mutations in FTDP-17 families has led to extensive and continuing research aimed at understanding how these mutations cause disease.
FTDP-17 is generally pathologically characterized by filamentous tau deposits in both neurons and glia accompanied by nerve cell loss and gliosis; however, it has been well documented that different tau mutations can also produce distinct pathologic findings (47).
For example, if a known FTDP-17 mutation is identified, then this information can prevent unnecessary diagnostic studies as well as prevent the utilization of inappropriate therapies.