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Alzheimers Dement (Amst). 2019 Jan 24;11:115-124. doi: 10.1016/j.dadm.2018.12.001. eCollection 2019 Dec.

Heritability in frontotemporal tauopathies.

Author information

1
Faculty of Medicine and Health, Charles Perkins Centre and Discipline of Pathology, University of Sydney, Sydney, Australia.
2
Faculty of Medicine and Health, Brain and Mind Centre and Central Clinical School, University of Sydney, Sydney, Australia.
3
Neuroscience Research Australia, Sydney, Australia.
4
School of Medical Sciences, University of New South Wales, Sydney, Australia.
5
ARC Centre of Excellence in Cognition and its Disorders, Sydney, Australia.
6
Brain and Mind Centre and School of Psychology, University of Sydney, Sydney, Australia.
7
Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.

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:

Family history; Frontotemporal degeneration; MAPT; Pathology; Tau

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