The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology

on Behalf of the LEFFTDS Consortium

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Introduction: It is important to establish the natural history of familial frontotemporal lobar degeneration (f-FTLD) and provide clinical and biomarker data for planning these studies, particularly in the asymptomatic phase. Methods: The Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects protocol was designed to enroll and follow at least 300 subjects for more than at least three annual visits who are members of kindreds with a mutation in one of the three most common f-FTLD genes—microtubule-associated protein tau, progranulin, or chromosome 9 open reading frame 72. Results: We present the theoretical considerations of f-FTLD and the aims/objectives of this protocol. We also describe the design and methodology for evaluating and rating subjects, in which detailed clinical and neuropsychological assessments are performed, biofluid samples are collected, and magnetic resonance imaging scans are performed using a standard protocol. Discussion: These data and samples, which are available to interested investigators worldwide, will facilitate planning for upcoming disease-modifying therapeutic trials in f-FTLD.

Original languageEnglish (US)
Pages (from-to)22-36
Number of pages15
JournalAlzheimer's and Dementia
Issue number1
StatePublished - Jan 1 2020


  • C9orf72
  • Frontotemporal dementia
  • GRN
  • Genetics
  • MAPT
  • TDP-43
  • Tau

ASJC Scopus subject areas

  • Epidemiology
  • Health Policy
  • Developmental Neuroscience
  • Clinical Neurology
  • Geriatrics and Gerontology
  • Cellular and Molecular Neuroscience
  • Psychiatry and Mental health


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