TY - JOUR
T1 - Heritability in frontotemporal tauopathies
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.
AB - 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.
KW - Frontotemporal degeneration
KW - Family history
KW - MAPT
KW - Tau
KW - Pathology
UR - http://purl.org/au-research/grants/nhmrc/1132524
UR - http://purl.org/au-research/grants/nhmrc/1095127
UR - http://purl.org/au-research/grants/arc/CE11000102
UR - http://purl.org/au-research/grants/nhmrc/1079679
UR - http://purl.org/au-research/grants/nhmrc/1103258
UR - http://www.scopus.com/inward/record.url?scp=85060310592&partnerID=8YFLogxK
U2 - 10.1016/j.dadm.2018.12.001
DO - 10.1016/j.dadm.2018.12.001
M3 - Article
C2 - 30723775
SN - 2352-8729
VL - 11
SP - 115
EP - 124
JO - Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring
JF - Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring
ER -