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

doi:10.1016/j.dadm.2018.12.001

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

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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.

Original language	English
Pages (from-to)	115-124
Number of pages	10
Journal	Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring
Volume	11
Issue number	1
DOIs	https://doi.org/10.1016/j.dadm.2018.12.001
Publication status	Published - Dec 2019
Externally published	Yes

Bibliographical note

Keywords

Frontotemporal degeneration
Family history
MAPT
Tau
Pathology

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10.1016/j.dadm.2018.12.001

Publisher version (open access)Final published version, 1.38 MBLicence: CC BY-NC-ND

Cite this

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title = "Heritability in frontotemporal tauopathies",

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.",

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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.",

year = "2019",

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AU - Forrest, Shelley L.

AU - Halliday, Glenda M.

AU - McCann, Heather

AU - McGeachie, Andrew B.

AU - McGinley, Ciara V.

AU - Hodges, John R.

AU - Piguet, Olivier

AU - Kwok, John B.

AU - Spillantini, Maria G.

AU - Kril, Jillian J.

N1 - 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.

PY - 2019/12

Y1 - 2019/12

N2 - 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.

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Heritability in frontotemporal tauopathies

Abstract

Bibliographical note

Keywords

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