The clinical, neuroanatomical, and neuropathologic phenotype of TBK1 -associated frontotemporal dementia: A longitudinal case report
Abstract Introduction Mutations in the TANK-binding kinase 1 ( TBK1 ) gene have recently been shown to cause frontotemporal dementia (FTD). However, the phenotype of TBK1 -associated FTD is currently unclear. Methods We performed a single case longitudinal study of a patient who was subsequently fou...
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| Published in: | Alzheimer's & dementia : diagnosis, assessment & disease monitoring Vol. 6; no. 1; pp. 75 - 81 |
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| Abstract | Abstract Introduction Mutations in the TANK-binding kinase 1 ( TBK1 ) gene have recently been shown to cause frontotemporal dementia (FTD). However, the phenotype of TBK1 -associated FTD is currently unclear. Methods We performed a single case longitudinal study of a patient who was subsequently found to have a novel A705fs mutation in the TBK1 gene. He was assessed annually over a 7-year period with a series of clinical, cognitive, and magnetic resonance imaging assessments. His brain underwent pathological examination at postmortem. Results The patient presented at the age of 64 years with an 18-month history of personality change including increased rigidity and obsessiveness, apathy, loss of empathy, and development of a sweet tooth. His mother had developed progressive behavioral and cognitive impairment from the age of 57 years. Neuropsychometry revealed intact cognition at first assessment. Magnetic resonance imaging showed focal right temporal lobe atrophy. Over the next few years his behavioral problems progressed and he developed cognitive impairment, initially with anomia and prosopagnosia. Neurological examination remained normal throughout without any features of motor neurone disease. He died at the age of 72 years and postmortem showed TDP-43 type A pathology but with an unusual novel feature of numerous TAR DNA-binding protein 43 (TDP-43)–positive neuritic structures at the cerebral cortex/subcortical white matter junction. There was also associated argyrophilic grain disease not previously reported in other TBK1 mutation cases. Discussion TBK1 -associated FTD can be associated with right temporal variant FTD with progressive behavioral change and relatively intact cognition initially. The case further highlights the benefits of next-generation sequencing technologies in the diagnosis of neurodegenerative disorders and the importance of detailed neuropathologic analysis. |
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| AbstractList | Introduction
Mutations in the TANK‐binding kinase 1 (TBK1) gene have recently been shown to cause frontotemporal dementia (FTD). However, the phenotype of TBK1‐associated FTD is currently unclear.
Methods
We performed a single case longitudinal study of a patient who was subsequently found to have a novel A705fs mutation in the TBK1 gene. He was assessed annually over a 7‐year period with a series of clinical, cognitive, and magnetic resonance imaging assessments. His brain underwent pathological examination at postmortem.
Results
The patient presented at the age of 64 years with an 18‐month history of personality change including increased rigidity and obsessiveness, apathy, loss of empathy, and development of a sweet tooth. His mother had developed progressive behavioral and cognitive impairment from the age of 57 years. Neuropsychometry revealed intact cognition at first assessment. Magnetic resonance imaging showed focal right temporal lobe atrophy. Over the next few years his behavioral problems progressed and he developed cognitive impairment, initially with anomia and prosopagnosia. Neurological examination remained normal throughout without any features of motor neurone disease. He died at the age of 72 years and postmortem showed TDP‐43 type A pathology but with an unusual novel feature of numerous TAR DNA‐binding protein 43 (TDP‐43)–positive neuritic structures at the cerebral cortex/subcortical white matter junction. There was also associated argyrophilic grain disease not previously reported in other TBK1 mutation cases.
Discussion
TBK1‐associated FTD can be associated with right temporal variant FTD with progressive behavioral change and relatively intact cognition initially. The case further highlights the benefits of next‐generation sequencing technologies in the diagnosis of neurodegenerative disorders and the importance of detailed neuropathologic analysis. Mutations in the TANK-binding kinase 1 (TBK1) gene have recently been shown to cause frontotemporal dementia (FTD). However, the phenotype of TBK1-associated FTD is currently unclear. We performed a single case longitudinal study of a patient who was subsequently found to have a novel A705fs mutation in the TBK1 gene. He was assessed annually over a 7-year period with a series of clinical, cognitive, and magnetic resonance imaging assessments. His brain underwent pathological examination at postmortem. The patient presented at the age of 64 years with an 18-month history of personality change including increased rigidity and obsessiveness, apathy, loss of empathy, and development of a sweet tooth. His mother had developed progressive behavioral and cognitive impairment from the age of 57 years. Neuropsychometry revealed intact cognition at first assessment. Magnetic resonance imaging showed focal right temporal lobe atrophy. Over the next few years his behavioral problems progressed and he developed cognitive impairment, initially with anomia and prosopagnosia. Neurological examination remained normal throughout without any features of motor neurone disease. He died at the age of 72 years and postmortem showed TDP-43 type A pathology but with an unusual novel feature of numerous TAR DNA-binding protein 43 (TDP-43)–positive neuritic structures at the cerebral cortex/subcortical white matter junction. There was also associated argyrophilic grain disease not previously reported in other TBK1 mutation cases. TBK1-associated FTD can be associated with right temporal variant FTD with progressive behavioral change and relatively intact cognition initially. The case further highlights the benefits of next-generation sequencing technologies in the diagnosis of neurodegenerative disorders and the importance of detailed neuropathologic analysis. Mutations in the TANK-binding kinase 1 (TBK1) gene have recently been shown to cause frontotemporal dementia (FTD). However, the phenotype of TBK1-associated FTD is currently unclear.INTRODUCTIONMutations in the TANK-binding kinase 1 (TBK1) gene have recently been shown to cause frontotemporal dementia (FTD). However, the phenotype of TBK1-associated FTD is currently unclear.We performed a single case longitudinal study of a patient who was subsequently found to have a novel A705fs mutation in the TBK1 gene. He was assessed annually over a 7-year period with a series of clinical, cognitive, and magnetic resonance imaging assessments. His brain underwent pathological examination at postmortem.METHODSWe performed a single case longitudinal study of a patient who was subsequently found to have a novel A705fs mutation in the TBK1 gene. He was assessed annually over a 7-year period with a series of clinical, cognitive, and magnetic resonance imaging assessments. His brain underwent pathological examination at postmortem.The patient presented at the age of 64 years with an 18-month history of personality change including increased rigidity and obsessiveness, apathy, loss of empathy, and development of a sweet tooth. His mother had developed progressive behavioral and cognitive impairment from the age of 57 years. Neuropsychometry revealed intact cognition at first assessment. Magnetic resonance imaging showed focal right temporal lobe atrophy. Over the next few years his behavioral problems progressed and he developed cognitive impairment, initially with anomia and prosopagnosia. Neurological examination remained normal throughout without any features of motor neurone disease. He died at the age of 72 years and postmortem showed TDP-43 type A pathology but with an unusual novel feature of numerous TAR DNA-binding protein 43 (TDP-43)-positive neuritic structures at the cerebral cortex/subcortical white matter junction. There was also associated argyrophilic grain disease not previously reported in other TBK1 mutation cases.RESULTSThe patient presented at the age of 64 years with an 18-month history of personality change including increased rigidity and obsessiveness, apathy, loss of empathy, and development of a sweet tooth. His mother had developed progressive behavioral and cognitive impairment from the age of 57 years. Neuropsychometry revealed intact cognition at first assessment. Magnetic resonance imaging showed focal right temporal lobe atrophy. Over the next few years his behavioral problems progressed and he developed cognitive impairment, initially with anomia and prosopagnosia. Neurological examination remained normal throughout without any features of motor neurone disease. He died at the age of 72 years and postmortem showed TDP-43 type A pathology but with an unusual novel feature of numerous TAR DNA-binding protein 43 (TDP-43)-positive neuritic structures at the cerebral cortex/subcortical white matter junction. There was also associated argyrophilic grain disease not previously reported in other TBK1 mutation cases.TBK1-associated FTD can be associated with right temporal variant FTD with progressive behavioral change and relatively intact cognition initially. The case further highlights the benefits of next-generation sequencing technologies in the diagnosis of neurodegenerative disorders and the importance of detailed neuropathologic analysis.DISCUSSIONTBK1-associated FTD can be associated with right temporal variant FTD with progressive behavioral change and relatively intact cognition initially. The case further highlights the benefits of next-generation sequencing technologies in the diagnosis of neurodegenerative disorders and the importance of detailed neuropathologic analysis. Mutations in the TANK-binding kinase 1 ( ) gene have recently been shown to cause frontotemporal dementia (FTD). However, the phenotype of -associated FTD is currently unclear. We performed a single case longitudinal study of a patient who was subsequently found to have a novel A705fs mutation in the gene. He was assessed annually over a 7-year period with a series of clinical, cognitive, and magnetic resonance imaging assessments. His brain underwent pathological examination at postmortem. The patient presented at the age of 64 years with an 18-month history of personality change including increased rigidity and obsessiveness, apathy, loss of empathy, and development of a sweet tooth. His mother had developed progressive behavioral and cognitive impairment from the age of 57 years. Neuropsychometry revealed intact cognition at first assessment. Magnetic resonance imaging showed focal right temporal lobe atrophy. Over the next few years his behavioral problems progressed and he developed cognitive impairment, initially with anomia and prosopagnosia. Neurological examination remained normal throughout without any features of motor neurone disease. He died at the age of 72 years and postmortem showed TDP-43 type A pathology but with an unusual novel feature of numerous TAR DNA-binding protein 43 (TDP-43)-positive neuritic structures at the cerebral cortex/subcortical white matter junction. There was also associated argyrophilic grain disease not previously reported in other mutation cases. -associated FTD can be associated with right temporal variant FTD with progressive behavioral change and relatively intact cognition initially. The case further highlights the benefits of next-generation sequencing technologies in the diagnosis of neurodegenerative disorders and the importance of detailed neuropathologic analysis. Abstract Introduction Mutations in the TANK-binding kinase 1 ( TBK1 ) gene have recently been shown to cause frontotemporal dementia (FTD). However, the phenotype of TBK1 -associated FTD is currently unclear. Methods We performed a single case longitudinal study of a patient who was subsequently found to have a novel A705fs mutation in the TBK1 gene. He was assessed annually over a 7-year period with a series of clinical, cognitive, and magnetic resonance imaging assessments. His brain underwent pathological examination at postmortem. Results The patient presented at the age of 64 years with an 18-month history of personality change including increased rigidity and obsessiveness, apathy, loss of empathy, and development of a sweet tooth. His mother had developed progressive behavioral and cognitive impairment from the age of 57 years. Neuropsychometry revealed intact cognition at first assessment. Magnetic resonance imaging showed focal right temporal lobe atrophy. Over the next few years his behavioral problems progressed and he developed cognitive impairment, initially with anomia and prosopagnosia. Neurological examination remained normal throughout without any features of motor neurone disease. He died at the age of 72 years and postmortem showed TDP-43 type A pathology but with an unusual novel feature of numerous TAR DNA-binding protein 43 (TDP-43)–positive neuritic structures at the cerebral cortex/subcortical white matter junction. There was also associated argyrophilic grain disease not previously reported in other TBK1 mutation cases. Discussion TBK1 -associated FTD can be associated with right temporal variant FTD with progressive behavioral change and relatively intact cognition initially. The case further highlights the benefits of next-generation sequencing technologies in the diagnosis of neurodegenerative disorders and the importance of detailed neuropathologic analysis. |
| Author | Crutch, Sebastian Brotherhood, Emilie Warren, Jason D Norsworthy, Penny Blauwendraat, Cornelis Dick, Katrina M Fox, Nick C Bocchetta, Martina Rohrer, Jonathan D Harding, Sophie R Koriath, Carolin A.M Revesz, Tamas Lashley, Tammaryn Mead, Simon Simón-Sánchez, Javier Gordon, Elizabeth Woollacott, Ione O.C |
| AuthorAffiliation | a Department of Neurodegenerative Disease, MRC Prion Unit, UCL Institute of Neurology, London, UK e Queen Square Brain Bank for Neurological Disorders, Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK c Genetics and Epigenetics of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), Tübingen, Germany d Applied Genomics for Neurodegenerative Diseases, German Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany b Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK |
| AuthorAffiliation_xml | – name: d Applied Genomics for Neurodegenerative Diseases, German Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany – name: b Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK – name: c Genetics and Epigenetics of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), Tübingen, Germany – name: e Queen Square Brain Bank for Neurological Disorders, Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK – name: a Department of Neurodegenerative Disease, MRC Prion Unit, UCL Institute of Neurology, London, UK |
| Author_xml | – sequence: 1 fullname: Koriath, Carolin A.M – sequence: 2 fullname: Bocchetta, Martina – sequence: 3 fullname: Brotherhood, Emilie – sequence: 4 fullname: Woollacott, Ione O.C – sequence: 5 fullname: Norsworthy, Penny – sequence: 6 fullname: Simón-Sánchez, Javier – sequence: 7 fullname: Blauwendraat, Cornelis – sequence: 8 fullname: Dick, Katrina M – sequence: 9 fullname: Gordon, Elizabeth – sequence: 10 fullname: Harding, Sophie R – sequence: 11 fullname: Fox, Nick C – sequence: 12 fullname: Crutch, Sebastian – sequence: 13 fullname: Warren, Jason D – sequence: 14 fullname: Revesz, Tamas – sequence: 15 fullname: Lashley, Tammaryn – sequence: 16 fullname: Mead, Simon – sequence: 17 fullname: Rohrer, Jonathan D |
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| Keywords | TBK1 Neurogenetics Frontotemporal dementia Neuropathology |
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| Snippet | Abstract Introduction Mutations in the TANK-binding kinase 1 ( TBK1 ) gene have recently been shown to cause frontotemporal dementia (FTD). However, the... Mutations in the TANK-binding kinase 1 (TBK1) gene have recently been shown to cause frontotemporal dementia (FTD). However, the phenotype of TBK1-associated... Introduction Mutations in the TANK‐binding kinase 1 (TBK1) gene have recently been shown to cause frontotemporal dementia (FTD). However, the phenotype of... Mutations in the TANK-binding kinase 1 ( ) gene have recently been shown to cause frontotemporal dementia (FTD). However, the phenotype of -associated FTD is... |
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| SubjectTerms | Frontotemporal dementia Genetics Neurogenetics Neurology Neuropathology Other TBK1 |
| Title | The clinical, neuroanatomical, and neuropathologic phenotype of TBK1 -associated frontotemporal dementia: A longitudinal case report |
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