Intrafamilial Phenotypic Variability in the C9orf72 Gene Expansion: 2 Case Studies
The C9orf72 genetic mutation is the most common cause of familial frontotemporal dementia (FTD) and motor neuron disease (MND). Previous family studies suggest that while some common clinical features may distinguish gene carriers from sporadic patients, the clinical features, age of onset and disea...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2018-09-01
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| Series: | Frontiers in Psychology |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fpsyg.2018.01615/full |
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| author | David Foxe David Foxe David Foxe Elle Elan Elle Elan James R. Burrell James R. Burrell Felicity V. C. Leslie Emma Devenney Emma Devenney John B. Kwok John B. Kwok Glenda M. Halliday Glenda M. Halliday John R. Hodges John R. Hodges Olivier Piguet Olivier Piguet Olivier Piguet |
| author_facet | David Foxe David Foxe David Foxe Elle Elan Elle Elan James R. Burrell James R. Burrell Felicity V. C. Leslie Emma Devenney Emma Devenney John B. Kwok John B. Kwok Glenda M. Halliday Glenda M. Halliday John R. Hodges John R. Hodges Olivier Piguet Olivier Piguet Olivier Piguet |
| author_sort | David Foxe |
| collection | DOAJ |
| description | The C9orf72 genetic mutation is the most common cause of familial frontotemporal dementia (FTD) and motor neuron disease (MND). Previous family studies suggest that while some common clinical features may distinguish gene carriers from sporadic patients, the clinical features, age of onset and disease progression vary considerably in affected patients. Whilst disease presentations may vary across families, age at disease onset appears to be relatively uniform within each family. Here, we report two individuals with a C9orf72 repeat expansion from two generations of the same family with markedly different age at disease onset, clinical presentation and disease progression: one who developed motor neuron and behavioural symptoms in their mid 40s and died 3 years later with confirmed TDP-43 pathology and MND; and a second who developed cognitive and mild behavioural symptoms in their mid 70s and 8 years later remains alive with only slow deterioration. This report highlights the phenotypic variability, including age of onset, within a family with the C9orf72 repeat expansion. |
| first_indexed | 2024-04-13T00:09:08Z |
| format | Article |
| id | doaj.art-6a312948260146708a525b045e991b80 |
| institution | Directory Open Access Journal |
| issn | 1664-1078 |
| language | English |
| last_indexed | 2024-04-13T00:09:08Z |
| publishDate | 2018-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Psychology |
| spelling | doaj.art-6a312948260146708a525b045e991b802022-12-22T03:11:09ZengFrontiers Media S.A.Frontiers in Psychology1664-10782018-09-01910.3389/fpsyg.2018.01615404634Intrafamilial Phenotypic Variability in the C9orf72 Gene Expansion: 2 Case StudiesDavid Foxe0David Foxe1David Foxe2Elle Elan3Elle Elan4James R. Burrell5James R. Burrell6Felicity V. C. Leslie7Emma Devenney8Emma Devenney9John B. Kwok10John B. Kwok11Glenda M. Halliday12Glenda M. Halliday13John R. Hodges14John R. Hodges15Olivier Piguet16Olivier Piguet17Olivier Piguet18School of Psychology, The University of Sydney, Sydney, NSW, AustraliaBrain and Mind Centre, The University of Sydney, Sydney, NSW, AustraliaARC Centre of Excellence in Cognition and its Disorders, Sydney, NSW, AustraliaBrain and Mind Centre, The University of Sydney, Sydney, NSW, AustraliaSydney Medical School, The University of Sydney, Sydney, NSW, AustraliaBrain and Mind Centre, The University of Sydney, Sydney, NSW, AustraliaConcord Repatriation General Hospital, Sydney, NSW, AustraliaCanberra Hospital and Health Services, Canberra, ACT, AustraliaBrain and Mind Centre, The University of Sydney, Sydney, NSW, AustraliaSydney Medical School, The University of Sydney, Sydney, NSW, AustraliaBrain and Mind Centre, The University of Sydney, Sydney, NSW, AustraliaSydney Medical School, The University of Sydney, Sydney, NSW, AustraliaBrain and Mind Centre, The University of Sydney, Sydney, NSW, AustraliaSydney Medical School, The University of Sydney, Sydney, NSW, AustraliaBrain and Mind Centre, The University of Sydney, Sydney, NSW, AustraliaSydney Medical School, The University of Sydney, Sydney, NSW, AustraliaSchool of Psychology, The University of Sydney, Sydney, NSW, AustraliaBrain and Mind Centre, The University of Sydney, Sydney, NSW, AustraliaARC Centre of Excellence in Cognition and its Disorders, Sydney, NSW, AustraliaThe C9orf72 genetic mutation is the most common cause of familial frontotemporal dementia (FTD) and motor neuron disease (MND). Previous family studies suggest that while some common clinical features may distinguish gene carriers from sporadic patients, the clinical features, age of onset and disease progression vary considerably in affected patients. Whilst disease presentations may vary across families, age at disease onset appears to be relatively uniform within each family. Here, we report two individuals with a C9orf72 repeat expansion from two generations of the same family with markedly different age at disease onset, clinical presentation and disease progression: one who developed motor neuron and behavioural symptoms in their mid 40s and died 3 years later with confirmed TDP-43 pathology and MND; and a second who developed cognitive and mild behavioural symptoms in their mid 70s and 8 years later remains alive with only slow deterioration. This report highlights the phenotypic variability, including age of onset, within a family with the C9orf72 repeat expansion.https://www.frontiersin.org/article/10.3389/fpsyg.2018.01615/fullslowly progressive dementiafrontotemporal dementiamotor neuron diseaseclinical case studyC9orf72genetics |
| spellingShingle | David Foxe David Foxe David Foxe Elle Elan Elle Elan James R. Burrell James R. Burrell Felicity V. C. Leslie Emma Devenney Emma Devenney John B. Kwok John B. Kwok Glenda M. Halliday Glenda M. Halliday John R. Hodges John R. Hodges Olivier Piguet Olivier Piguet Olivier Piguet Intrafamilial Phenotypic Variability in the C9orf72 Gene Expansion: 2 Case Studies Frontiers in Psychology slowly progressive dementia frontotemporal dementia motor neuron disease clinical case study C9orf72 genetics |
| title | Intrafamilial Phenotypic Variability in the C9orf72 Gene Expansion: 2 Case Studies |
| title_full | Intrafamilial Phenotypic Variability in the C9orf72 Gene Expansion: 2 Case Studies |
| title_fullStr | Intrafamilial Phenotypic Variability in the C9orf72 Gene Expansion: 2 Case Studies |
| title_full_unstemmed | Intrafamilial Phenotypic Variability in the C9orf72 Gene Expansion: 2 Case Studies |
| title_short | Intrafamilial Phenotypic Variability in the C9orf72 Gene Expansion: 2 Case Studies |
| title_sort | intrafamilial phenotypic variability in the c9orf72 gene expansion 2 case studies |
| topic | slowly progressive dementia frontotemporal dementia motor neuron disease clinical case study C9orf72 genetics |
| url | https://www.frontiersin.org/article/10.3389/fpsyg.2018.01615/full |
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