Examination of the Earliest Symptoms and Biomarkers of FTLD

The ESFTLD Study, Examination of the Earliest Symptoms and Biomarkers of FTLD MAPT Carriers (R01NS076837) aimed to better understand and characterize early-stage FTLD, with the larger goal of facilitating earlier disease detection and preventing irreversible neurological changes.

For more information about this study and the data collected, please see the following publications:

Cheran G et al. Cognitive Indicators of Preclinical Behavioral Variant Frontotemporal Dementia in MAPT Carriers.
J Int Neuropsychol Soc. 2019 Feb;25(2):184-194.

Cheran G, et al. Psychiatric symptoms in preclinical behavioural-variant frontotemporal dementia in MAPT mutation carriers.
J Neurol Neurosurg Psychiatry. 2018 May;89(5):449-455.

Domínguez-Vivero C et al. Structural Brain Changes in Pre-Clinical FTD MAPT Mutation Carriers.
J Alzheimers Dis. 2020;75(2):595-606.

Study Participants

ESFTLD followed the offspring generation of a large family with a known mutation in the MAPT (tau) gene to determine the earliest clinical features of FTLD and the variables which may modify disease onset and course.

Of the more than 90 eligible individuals in the family, BioSEND has samples from 60 individuals.

Approximately 25% of the participants in this study were later enrolled in the ALLFTD program, samples from which are managed by the National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD). Visit NCRAD to learn more about samples available through ALLFTD.

Available Data

CLINICAL: cognition, behavior, psychiatric symptoms, lifestyle features

IMAGING: structural and functional neuroimaging

BIOLOGIC: CSF proteomics and more

GENETIC: genotyping

Please contact biosend@iu.edu for more information on how to access available data.

Available Biospecimens

DNA and RNA from blood, plasma, whole blood, and CSF.

Applications for use of the ESFTLD samples are reviewed by the NCRAD BRC.