Taub Institute: Genomics Core
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Frontotemporal Lobar Degeneration and Related Disorders

The Taub Institute has an active clinical and research program on Frontotemporal lobar degeneration (FTLD) and related disorders including Primary Progressive Aphasia, Semantic Dementia and FTD-ALS. The program is headed by Edward Huey, Jill Goldman, Stephanie Cosentino, and Lawrence Honig. We have a clinic in the Neurological Institute for patients with FTLD and related disorders which includes genetic counseling and caregiver support groups. Our research is focused on several areas including: identifying the genetic bases of FTLD and related disorders, characterizing the earliest changes in thinking and behavior that can occur with these disorders, learning about the functioning of the healthy brain from patients with frontal lobe disorders, and exploring treatments for FTLD and related disorders.


In recent work, we have published an algorithm for clinical genetic testing in patients with FTLD. We were the first to report that TDP-43 mutations can result in corticobasal syndrome, that there may be an association between mutations in GRN and schizophrenia, and that a novel mutation in CHMP2B can cause FTLD. We have also published reports that have described the effects of BDNF genotype on recovery from injury to the frontal lobes, and the phenotype associated with GRN mutations. We continue to investigate the range of phenotypes that can occur with mutations associated with FTLD.

Brain function

We have published several reports on cognitive changes, and the lack of awareness of symptoms, called anosognosia, in patients with FTLD and related disorders. We have explored the neuroanatomical basis of other symptoms of FTLD including apathy, inappropriate behaviors, apraxia, executive dysfunction, sexual symptoms, and semantic knowledge. We continue to work with patients with FTLD and related disorders to better understand the etiology of their symptoms, and to identify the earliest changes in thinking abilities and behavior that occur with these disorders.


We are currently administering two clinical trials targeting behavioral symptoms of FTLD. Please refer to the clinical trials tab for further information.


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