Heritability in frontotemporal tauopathies

Abstract

Abstract 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.

Keywords

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