The New Zealand Genetic Frontotemporal Dementia Study (FTDGeNZ): a longitudinal study of pre-symptomatic biomarkers

ABSTRACT

The New Zealand Genetic Frontotemporal Dementia Study (FTDGeNZ) is an emerging longitudinal study of a large New Zealand pedigree with genetic frontotemporal dementia (FTD). Natural history studies of genetic FTD cohorts provide a unique opportunity to identify biomarkers of pre-symptomatic dementia, as carriers can be identified and studied decades before expected symptom onset. FTDGeNZ was established in 2016 with the aim of identifying the earliest pre-symptomatic biomarkers of FTD, in collaboration with international multi-centre cohorts. We enrolled 25 participants from a single family between April 2016 and August 2018. Participants were genotyped to determine whether they were pre-symptomatic carriers of the mutation (MAPT IVS 10 + 16 C > T), or non-carrier controls. Participants have undergone clinical assessments including neuropsychological and mood assessment; olfactory testing; assessment of social cognition; and blood collection for analyses of microRNA and protein fluid biomarkers annually. We have also performed structural and functional MRI of the brain and assessment of autobiographical memory biennially, and retinal imaging at baseline. Here, we describe the full study protocol and the baseline demographic and clinical characteristics of the FTDGeNZ cohort, and we highlight the latest findings in the field.

KEYWORDS:

• Behavioural frontotemporal dementia
• frontotemporal lobar degeneration
• young onset dementia
• tau
• biomarker

Acknowledgements

The authors would like to thank the Neurological Foundation Human Brain Bank, and the participants and their families for taking part in the FTDGeNZ study.

Disclosure statement

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

Additional information

Funding

This work was supported by the Health Research Council of New Zealand [grant number 18/382], the Auckland Medical Research Foundation [grant number 3715182], Brain Research New Zealand Rangahau Roro Aotearoa [grant numbers 3709946, 3709932 and 3717693], the Kelliher Charitable Trust [grant number 3716229] and the University of Auckland Faculty Research Development Fund [grant number 3714135]. D.R.A. is supported by the Canada 150 Research Chairs Program.