Overview

Frontotemporal lobar degeneration (FTLD) is one of the dementia disorders that present behavioral abnormalities, psychiatric symptoms, and speech disturbances due to neurodegeneration of the frontal and temporal lobes of the brain.

Characteristics

Gene mutations occur in microtubule-associated protein tau (MAPT), the so-called tau gene, and other genes that are known to cause familial FTLD, such as the progranulin gene.

Research status

Using iPS cells established from FTLD patients, reproduction of pathological changes have been reported such as neuronal vulnerability, dysregulation of calcium ion dynamics associated with neuronal activity, hyperphosphorylation of tau protein, and dystrophic neurites. And several investigations of therapeutic agents are underway, such as drugs to increase progranulin.
In cerebral organoids, RNA splicing abnormalities and autophagy dysregulation due to mutant tau genes have also been observed.

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