Heritability in frontotemporal tauopathies

Shelley L. Forrest, Glenda M. Halliday, Heather McCann, Andrew B. McGeachie, Ciara V. McGinley, John R. Hodges, Olivier Piguet, John B. Kwok, Maria G. Spillantini, Jillian J. Kril

Research output: Contribution to journalArticlepeer-review

20 Citations (Scopus)
27 Downloads (Pure)


Introduction: Exploring the degree of heritability in a large cohort of frontotemporal lobar degeneration with tau-immunopositive inclusions (FTLD-tau) and determining if different FTLD-tau subtypes are associated with stronger heritability will provide important insight into disease pathogenesis.

Methods: Using modified Goldman pedigree classifications, heritability was examined in pathologically proven FTLD-tau cases with dementia at any time (n = 124) from the Sydney-Cambridge collection.

Results: Thirteen percent of the FTLD-tau cohort have a suggested autosomal dominant pattern of inheritance, 25% have some family history, and 62% apparently sporadic. MAPT mutations were found in 9% of cases. Globular glial tauopathy was associated with the strongest heritability with 40% having a suggested autosomal dominant pattern of inheritance followed by corticobasal degeneration (19%), Pick's disease (8%), and progressive supranuclear palsy (6%).

Discussion: Similar to clinical frontotemporal dementia syndromes, heritability varies between pathological subtypes. Further identification of a genetic link in cases with strong heritability await discovery.

Original languageEnglish
Pages (from-to)115-124
Number of pages10
JournalAlzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring
Publication statusPublished - Dec 2019
Externally publishedYes

Bibliographical note

Crown Copyright 2018. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.


  • Frontotemporal degeneration
  • Family history
  • MAPT
  • Tau
  • Pathology


Dive into the research topics of 'Heritability in frontotemporal tauopathies'. Together they form a unique fingerprint.

Cite this