Symptomatic progression of frontotemporal dementia with the TARDBP I383V variant

ABSTRACT

We present a longitudinal description of a man with the TARDBP I383V variant of frontotemporal dementia (FTD). His progressive changes in behavior and language resulted in a diagnosis of the right temporal variant of FTD, also called the semantic behavioral variant (sbvFTD). We also present data from a small series of patients with the TARDBP I383V variant who were enrolled in a nationwide FTD research collaboration (ALLFTD). These data support slowly progressive loss of semantic function. While semantic dementia is infrequently considered genetic, the TARDBP I383V variant seems to be an exception. Longitudinal analyses in larger samples are warranted.

KEYWORDS:

• Frontotemporal dementia
• semantic dementia
• TARDBP
• right temporal FTD
• semantic behavioral variant FTD

Acknowledgements

We would like to thank the participants and staff of the University of Colorado Alzheimer and Cognition Center and ALLFTD, as well as funding from NIH K23 AG0663900-01A1, ALLFTD: U19 AG063911 LEFFTDS: UO1 AG045390; ARTFL: U24 NS092089; NACC: U01 AG016976, NCRAD: U24 AG021886.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Data availability statement

ALLFTD data are available through on reasonable request through https://www.allftd.org/data.

Additional information

Funding

The work was supported by the Foundation for the National Institutes of Health [U01 AG016976]; National Institute on Aging [NIH K23 AG0663900].