Clinical features and biomarkers of semantic variant primary progressive aphasia with MAPT mutation
Abstract Background Semantic variant primary progressive aphasia (svPPA) is generally sporadic, with very few reports of tau pathology caused by MAPT mutations. Methods A 64-year-old man was diagnosed with svPPA with MAPT P301L mutation. Clinical information, cognitive and language functions, multim...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-01-01
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| Series: | Alzheimer’s Research & Therapy |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13195-023-01176-y |
| _version_ | 1811175988408614912 |
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| author | Jing Xu Yanmin Xia Meng Meng Fang Liu Ping Che Yanxin Zhang Ying Wang Li Cai Wen Qin Nan Zhang |
| author_facet | Jing Xu Yanmin Xia Meng Meng Fang Liu Ping Che Yanxin Zhang Ying Wang Li Cai Wen Qin Nan Zhang |
| author_sort | Jing Xu |
| collection | DOAJ |
| description | Abstract Background Semantic variant primary progressive aphasia (svPPA) is generally sporadic, with very few reports of tau pathology caused by MAPT mutations. Methods A 64-year-old man was diagnosed with svPPA with MAPT P301L mutation. Clinical information, cognitive and language functions, multimodal magnetic resonance imaging (MRI), blood biomarkers, fluorodeoxyglucose (FDG) imaging and tau positron emission tomography (PET) were obtained. Results Semantic memory impairment was the earliest and most prominent symptom in this family. Tau accumulation and hypometabolism were observed prior to brain atrophy in mutation carriers. Plasma NfL and GFAP concentrations were elevated in the two svPPA patients. Some relative decreases and some relative increases in regional cerebral blood flow (CBF) as measured by arterial spin labelling (ASL) were observed in mutation carriers compared to noncarriers. Conclusions This study describes a large svPPA-affected family with the MAPT P301L mutation and provides an ideal model for inferring underlying pathology and pathophysiological processes in svPPA caused by tauopathies. |
| first_indexed | 2024-04-10T19:45:47Z |
| format | Article |
| id | doaj.art-e389ecd79dd845d8bef51154557d6204 |
| institution | Directory Open Access Journal |
| issn | 1758-9193 |
| language | English |
| last_indexed | 2024-04-10T19:45:47Z |
| publishDate | 2023-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Alzheimer’s Research & Therapy |
| spelling | doaj.art-e389ecd79dd845d8bef51154557d62042023-01-29T12:06:11ZengBMCAlzheimer’s Research & Therapy1758-91932023-01-0115111410.1186/s13195-023-01176-yClinical features and biomarkers of semantic variant primary progressive aphasia with MAPT mutationJing Xu0Yanmin Xia1Meng Meng2Fang Liu3Ping Che4Yanxin Zhang5Ying Wang6Li Cai7Wen Qin8Nan Zhang9Department of Neurology, Tianjin Neurological Institute, Tianjin Medical University General HospitalDepartment of Neurology, Tianjin Neurological Institute, Tianjin Medical University General HospitalDepartment of Neurology, Tianjin Medical University General Hospital Airport SiteDepartment of Neurology, Tianjin Neurological Institute, Tianjin Medical University General HospitalDepartment of Neurology, Tianjin Neurological Institute, Tianjin Medical University General HospitalDepartment of Neurology, Tianjin Neurological Institute, Tianjin Medical University General HospitalDepartment of PET-CT Diagnostic, Tianjin Medical University General HospitalDepartment of PET-CT Diagnostic, Tianjin Medical University General HospitalDepartment of Radiology and Tianjin Key Laboratory of Functional Imaging, Tianjin Medical University General HospitalDepartment of Neurology, Tianjin Neurological Institute, Tianjin Medical University General HospitalAbstract Background Semantic variant primary progressive aphasia (svPPA) is generally sporadic, with very few reports of tau pathology caused by MAPT mutations. Methods A 64-year-old man was diagnosed with svPPA with MAPT P301L mutation. Clinical information, cognitive and language functions, multimodal magnetic resonance imaging (MRI), blood biomarkers, fluorodeoxyglucose (FDG) imaging and tau positron emission tomography (PET) were obtained. Results Semantic memory impairment was the earliest and most prominent symptom in this family. Tau accumulation and hypometabolism were observed prior to brain atrophy in mutation carriers. Plasma NfL and GFAP concentrations were elevated in the two svPPA patients. Some relative decreases and some relative increases in regional cerebral blood flow (CBF) as measured by arterial spin labelling (ASL) were observed in mutation carriers compared to noncarriers. Conclusions This study describes a large svPPA-affected family with the MAPT P301L mutation and provides an ideal model for inferring underlying pathology and pathophysiological processes in svPPA caused by tauopathies.https://doi.org/10.1186/s13195-023-01176-yFrontotemporal lobar degenerationSemantic variant primary progressive aphasiaMAPT geneP301L mutationNext-generation sequencing |
| spellingShingle | Jing Xu Yanmin Xia Meng Meng Fang Liu Ping Che Yanxin Zhang Ying Wang Li Cai Wen Qin Nan Zhang Clinical features and biomarkers of semantic variant primary progressive aphasia with MAPT mutation Alzheimer’s Research & Therapy Frontotemporal lobar degeneration Semantic variant primary progressive aphasia MAPT gene P301L mutation Next-generation sequencing |
| title | Clinical features and biomarkers of semantic variant primary progressive aphasia with MAPT mutation |
| title_full | Clinical features and biomarkers of semantic variant primary progressive aphasia with MAPT mutation |
| title_fullStr | Clinical features and biomarkers of semantic variant primary progressive aphasia with MAPT mutation |
| title_full_unstemmed | Clinical features and biomarkers of semantic variant primary progressive aphasia with MAPT mutation |
| title_short | Clinical features and biomarkers of semantic variant primary progressive aphasia with MAPT mutation |
| title_sort | clinical features and biomarkers of semantic variant primary progressive aphasia with mapt mutation |
| topic | Frontotemporal lobar degeneration Semantic variant primary progressive aphasia MAPT gene P301L mutation Next-generation sequencing |
| url | https://doi.org/10.1186/s13195-023-01176-y |
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