Corticobasal syndrome mimicking Foix-Chavany-Marie syndrome with suggested 4-repeat tauopathy by tau PET
Abstract Background Corticobasal syndrome (CBS) is a neurodegenerative disease diagnosed based on clinical manifestations such as asymmetrical parkinsonism, limb apraxia, and speech and language impairment. The background pathology of CBS is commonly a variety of proteinopathies, but association wit...
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| Format: | Article |
| Language: | English |
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BMC
2023-12-01
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| Series: | BMC Geriatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12877-023-04564-z |
| _version_ | 1797388079665774592 |
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| author | Kosei Nakamura Yasuko Kuroha Masahiro Hatakeyama Atsushi Michael Kimura Yukimi Nakamura Yoshihiro Murakami Masaki Watanabe Hironaka Igarashi Tetsuya Takahashi Hitoshi Shimada |
| author_facet | Kosei Nakamura Yasuko Kuroha Masahiro Hatakeyama Atsushi Michael Kimura Yukimi Nakamura Yoshihiro Murakami Masaki Watanabe Hironaka Igarashi Tetsuya Takahashi Hitoshi Shimada |
| author_sort | Kosei Nakamura |
| collection | DOAJ |
| description | Abstract Background Corticobasal syndrome (CBS) is a neurodegenerative disease diagnosed based on clinical manifestations such as asymmetrical parkinsonism, limb apraxia, and speech and language impairment. The background pathology of CBS is commonly a variety of proteinopathies, but association with cerebrovascular disease has also been reported. Foix-Chavany-Marie syndrome (FCMS) is a rare neurological disorder characterized by facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation presenting with bilateral paresis of the facial, lingual, pharyngeal and masticatory muscles. FCMS is commonly attributable to stroke. Transactive response DNA binding protein of 43 kD (TDP-43) proteinopathy is also known as the pathological background of FCMS, while the pathological background of the majority of CBS cases consists of diverse tauopathies instead of TDP-43 proteinopathy. In this report, we describe a case mimicking FCMS that was finally diagnosed as CBS with suggested 4-repeat tauopathy. Case presentation A 68-year-old female started experiencing difficulty speaking followed by difficulty writing, and especially texting, several years before her visit. Her impairment had been gradually worsening, and she came to our hospital. On neurological examination, she demonstrated the facial apraxia, frontal lobe dysfunction, and upper motor neuron signs. She presented some characteristics suggestive of FCMS. Her symptoms exhibited rapid progression and myoclonus, parkinsonism, and left-side dominant cortical sensory deficit occurred, resulting in the fulfillment of diagnostic criteria for CBS after 9 months. Tau PET imaging displayed notable ligand uptake in the brainstem, subthalamic nuclei, basal ganglia, and bilateral subcortical frontal lobe, suggesting that her pathological background was 4-repeat tauopathy. As a result of her progressive dysphagia, she became unable to eat and passed away after 12 months. Conclusion We hereby present an atypical case of CBS showing clinical features mimicking FCMS at first presentation. TDP-43 proteinopathy was suspected based on the clinical symptoms in the early stages of the disease; however, the clinical course and imaging findings including tau PET suggested that her pathological background was 4-repeat tauopathy. |
| first_indexed | 2024-03-08T22:35:36Z |
| format | Article |
| id | doaj.art-a8af366b868c480a95654de25107f9f6 |
| institution | Directory Open Access Journal |
| issn | 1471-2318 |
| language | English |
| last_indexed | 2024-03-08T22:35:36Z |
| publishDate | 2023-12-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Geriatrics |
| spelling | doaj.art-a8af366b868c480a95654de25107f9f62023-12-17T12:29:22ZengBMCBMC Geriatrics1471-23182023-12-012311610.1186/s12877-023-04564-zCorticobasal syndrome mimicking Foix-Chavany-Marie syndrome with suggested 4-repeat tauopathy by tau PETKosei Nakamura0Yasuko Kuroha1Masahiro Hatakeyama2Atsushi Michael Kimura3Yukimi Nakamura4Yoshihiro Murakami5Masaki Watanabe6Hironaka Igarashi7Tetsuya Takahashi8Hitoshi Shimada9Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata UniversityDepartment of Neurology, NHO Nishiniigata Chuo HospitalDepartment of Neurology, Clinical Neuroscience Branch, Brain Research Institute, Niigata UniversityDepartment of Functional Neurology & Neurosurgery, Center for Integrated Human Brain Science, Brain Research Institute, Niigata UniversityDepartment of Integrated Neuroscience, Center for Integrated Human Brain Science, Brain Research Institute, Niigata UniversityDepartment of Functional Neurology & Neurosurgery, Center for Integrated Human Brain Science, Brain Research Institute, Niigata UniversityDepartment of Biological Magnetic Resonance, Center for Integrated Human Brain Science, Brain Research Institute, Niigata UniversityDepartment of Biological Magnetic Resonance, Center for Integrated Human Brain Science, Brain Research Institute, Niigata UniversityDepartment of Neurology, NHO Nishiniigata Chuo HospitalDepartment of Functional Neurology & Neurosurgery, Center for Integrated Human Brain Science, Brain Research Institute, Niigata UniversityAbstract Background Corticobasal syndrome (CBS) is a neurodegenerative disease diagnosed based on clinical manifestations such as asymmetrical parkinsonism, limb apraxia, and speech and language impairment. The background pathology of CBS is commonly a variety of proteinopathies, but association with cerebrovascular disease has also been reported. Foix-Chavany-Marie syndrome (FCMS) is a rare neurological disorder characterized by facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation presenting with bilateral paresis of the facial, lingual, pharyngeal and masticatory muscles. FCMS is commonly attributable to stroke. Transactive response DNA binding protein of 43 kD (TDP-43) proteinopathy is also known as the pathological background of FCMS, while the pathological background of the majority of CBS cases consists of diverse tauopathies instead of TDP-43 proteinopathy. In this report, we describe a case mimicking FCMS that was finally diagnosed as CBS with suggested 4-repeat tauopathy. Case presentation A 68-year-old female started experiencing difficulty speaking followed by difficulty writing, and especially texting, several years before her visit. Her impairment had been gradually worsening, and she came to our hospital. On neurological examination, she demonstrated the facial apraxia, frontal lobe dysfunction, and upper motor neuron signs. She presented some characteristics suggestive of FCMS. Her symptoms exhibited rapid progression and myoclonus, parkinsonism, and left-side dominant cortical sensory deficit occurred, resulting in the fulfillment of diagnostic criteria for CBS after 9 months. Tau PET imaging displayed notable ligand uptake in the brainstem, subthalamic nuclei, basal ganglia, and bilateral subcortical frontal lobe, suggesting that her pathological background was 4-repeat tauopathy. As a result of her progressive dysphagia, she became unable to eat and passed away after 12 months. Conclusion We hereby present an atypical case of CBS showing clinical features mimicking FCMS at first presentation. TDP-43 proteinopathy was suspected based on the clinical symptoms in the early stages of the disease; however, the clinical course and imaging findings including tau PET suggested that her pathological background was 4-repeat tauopathy.https://doi.org/10.1186/s12877-023-04564-zCorticobasal syndromeFoix-Chavany-Marie syndromeTau PETAphasia |
| spellingShingle | Kosei Nakamura Yasuko Kuroha Masahiro Hatakeyama Atsushi Michael Kimura Yukimi Nakamura Yoshihiro Murakami Masaki Watanabe Hironaka Igarashi Tetsuya Takahashi Hitoshi Shimada Corticobasal syndrome mimicking Foix-Chavany-Marie syndrome with suggested 4-repeat tauopathy by tau PET BMC Geriatrics Corticobasal syndrome Foix-Chavany-Marie syndrome Tau PET Aphasia |
| title | Corticobasal syndrome mimicking Foix-Chavany-Marie syndrome with suggested 4-repeat tauopathy by tau PET |
| title_full | Corticobasal syndrome mimicking Foix-Chavany-Marie syndrome with suggested 4-repeat tauopathy by tau PET |
| title_fullStr | Corticobasal syndrome mimicking Foix-Chavany-Marie syndrome with suggested 4-repeat tauopathy by tau PET |
| title_full_unstemmed | Corticobasal syndrome mimicking Foix-Chavany-Marie syndrome with suggested 4-repeat tauopathy by tau PET |
| title_short | Corticobasal syndrome mimicking Foix-Chavany-Marie syndrome with suggested 4-repeat tauopathy by tau PET |
| title_sort | corticobasal syndrome mimicking foix chavany marie syndrome with suggested 4 repeat tauopathy by tau pet |
| topic | Corticobasal syndrome Foix-Chavany-Marie syndrome Tau PET Aphasia |
| url | https://doi.org/10.1186/s12877-023-04564-z |
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