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 pathoge...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2019-12-01
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| Series: | Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring |
| Subjects: | |
| Online Access: | https://doi.org/10.1016/j.dadm.2018.12.001 |
| _version_ | 1818840273423171584 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Shelley L. Forrest |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-19T04:07:34Z |
| format | Article |
| id | doaj.art-deb878183a6548fa8de57e71b87fd25d |
| institution | Directory Open Access Journal |
| issn | 2352-8729 |
| language | English |
| last_indexed | 2024-12-19T04:07:34Z |
| publishDate | 2019-12-01 |
| publisher | Wiley |
| record_format | Article |
| series | Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring |
| spelling | doaj.art-deb878183a6548fa8de57e71b87fd25d2022-12-21T20:36:29ZengWileyAlzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring2352-87292019-12-0111111512410.1016/j.dadm.2018.12.001Heritability in frontotemporal tauopathiesShelley L. Forrest0Glenda M. Halliday1Heather McCann2Andrew B. McGeachie3Ciara V. McGinley4John R. Hodges5Olivier Piguet6John B. Kwok7Maria G. Spillantini8Jillian J. Kril9Faculty of Medicine and Health, Charles Perkins Centre and Discipline of PathologyUniversity of SydneySydneyAustraliaFaculty of Medicine and HealthBrain and Mind Centre and Central Clinical School, University of SydneySydneyAustraliaNeuroscience Research AustraliaSydneyAustraliaNeuroscience Research AustraliaSydneyAustraliaFaculty of Medicine and Health, Charles Perkins Centre and Discipline of PathologyUniversity of SydneySydneyAustraliaFaculty of Medicine and HealthBrain and Mind Centre and Central Clinical School, University of SydneySydneyAustraliaNeuroscience Research AustraliaSydneyAustraliaFaculty of Medicine and HealthBrain and Mind Centre and Central Clinical School, University of SydneySydneyAustraliaDepartment of Clinical NeurosciencesUniversity of CambridgeCambridgeUKFaculty of Medicine and Health, Charles Perkins Centre and Discipline of PathologyUniversity of SydneySydneyAustraliaAbstract 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.https://doi.org/10.1016/j.dadm.2018.12.001Frontotemporal degenerationFamily historyMAPTTauPathology |
| spellingShingle | 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 Heritability in frontotemporal tauopathies Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring Frontotemporal degeneration Family history MAPT Tau Pathology |
| title | Heritability in frontotemporal tauopathies |
| title_full | Heritability in frontotemporal tauopathies |
| title_fullStr | Heritability in frontotemporal tauopathies |
| title_full_unstemmed | Heritability in frontotemporal tauopathies |
| title_short | Heritability in frontotemporal tauopathies |
| title_sort | heritability in frontotemporal tauopathies |
| topic | Frontotemporal degeneration Family history MAPT Tau Pathology |
| url | https://doi.org/10.1016/j.dadm.2018.12.001 |
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