Characteristic cerebral perfusion pattern in neuronal intranuclear inclusion disease
BackgroundNeuronal intranuclear inclusion disease (NIID), which pathogenesis remains largely unclear, is a neurodegenerative disease caused by GGC repeat expansion in NOTCH2NLC gene. As case studies have reported dynamic cortical perfusion changes in NIID, this study aimed to explore the cerebral pe...
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| Format: | Article |
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Frontiers Media S.A.
2022-12-01
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| Series: | Frontiers in Neuroscience |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fnins.2022.1081383/full |
| _version_ | 1828175600798400512 |
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| author | Hong-Fei Tai Hong-Fei Tai Tian-Tian Hua Tian-Tian Hua Zai-Qiang Zhang Zai-Qiang Zhang Yun-Yun Duan Yun-Yun Duan Zhi-Zheng Zhuo Zhi-Zheng Zhuo An Wang An Wang Yi Zhou Yi Zhou Shao-Cheng Liu Shao-Cheng Liu Shan Lv Shan Lv |
| author_facet | Hong-Fei Tai Hong-Fei Tai Tian-Tian Hua Tian-Tian Hua Zai-Qiang Zhang Zai-Qiang Zhang Yun-Yun Duan Yun-Yun Duan Zhi-Zheng Zhuo Zhi-Zheng Zhuo An Wang An Wang Yi Zhou Yi Zhou Shao-Cheng Liu Shao-Cheng Liu Shan Lv Shan Lv |
| author_sort | Hong-Fei Tai |
| collection | DOAJ |
| description | BackgroundNeuronal intranuclear inclusion disease (NIID), which pathogenesis remains largely unclear, is a neurodegenerative disease caused by GGC repeat expansion in NOTCH2NLC gene. As case studies have reported dynamic cortical perfusion changes in NIID, this study aimed to explore the cerebral perfusion pattern in NIID patients.Materials and methodsA total of 38 NIID patients and 34 healthy controls (HCs) were recruited, and 2 NIID patients who had had episodic symptoms within 2 months were excluded. Data on demographic characteristics and clinical features were collected. All participants underwent three-dimensional pseudo-continuous arterial spin labeling perfusion magnetic resonance imaging (MRI) scanning. Voxel-based comparisons of cerebral blood flow (CBF) were conducted.ResultsNIID patients showed decreased perfusion in the cortex but increased perfusion in the deep brain regions compared with HCs. The regions with significant hypoperfusion were distributed in the bilateral frontal, temporal, parietal, and occipital gyri, with the left frontal gyrus being the most prominent. The regions with significant hyperperfusion included the bilateral basal ganglia, midbrain, pons, para-hippocampal, and parts of the bilateral cerebellum, fusiform, lingual, rectus, orbital, and cingulum anterior gyri, which were adjacent to the midline (all FDR-corrected p <0.05). When comparing the mean CBF value of the whole brain, no significant differences were observed between NIID patients and HCs (28.81 ± 10.1 vs. 27.99 ± 5.68 ml/100 g*min, p = 0.666). Voxel-based analysis showed no significant difference in cerebral perfusion between NIID patients with and without episodic symptoms. The perfusion within the bilateral middle frontal and anterior cingulate gyri showed positive correlations with MMSE and MoCA scores using age, sex, and education as covariates (p <0.005 uncorrected).ConclusionNIID patients exhibited characteristic cortical hypoperfusion and deep brain hyperperfusion. The perfusion in the bilateral frontal lobe and cingulate gyrus was correlated with the severity of cognitive dysfunction. Cerebral perfusion change may be involved in NIID pathophysiology and serve as a potential indicator for monitoring NIID severity and progression. |
| first_indexed | 2024-04-12T04:29:47Z |
| format | Article |
| id | doaj.art-35add7b082ec4b3d81490374186f1635 |
| institution | Directory Open Access Journal |
| issn | 1662-453X |
| language | English |
| last_indexed | 2024-04-12T04:29:47Z |
| publishDate | 2022-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neuroscience |
| spelling | doaj.art-35add7b082ec4b3d81490374186f16352022-12-22T03:47:57ZengFrontiers Media S.A.Frontiers in Neuroscience1662-453X2022-12-011610.3389/fnins.2022.10813831081383Characteristic cerebral perfusion pattern in neuronal intranuclear inclusion diseaseHong-Fei Tai0Hong-Fei Tai1Tian-Tian Hua2Tian-Tian Hua3Zai-Qiang Zhang4Zai-Qiang Zhang5Yun-Yun Duan6Yun-Yun Duan7Zhi-Zheng Zhuo8Zhi-Zheng Zhuo9An Wang10An Wang11Yi Zhou12Yi Zhou13Shao-Cheng Liu14Shao-Cheng Liu15Shan Lv16Shan Lv17Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaNational Clinical Research Center for Neurological Diseases, Beijing, ChinaDepartment of Radiology, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaTiantan Image Research Center, National Clinical Research Center for Neurological Diseases, Beijing, ChinaDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaNational Clinical Research Center for Neurological Diseases, Beijing, ChinaDepartment of Radiology, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaTiantan Image Research Center, National Clinical Research Center for Neurological Diseases, Beijing, ChinaDepartment of Radiology, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaTiantan Image Research Center, National Clinical Research Center for Neurological Diseases, Beijing, ChinaDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaNational Clinical Research Center for Neurological Diseases, Beijing, ChinaDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaNational Clinical Research Center for Neurological Diseases, Beijing, ChinaDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaNational Clinical Research Center for Neurological Diseases, Beijing, ChinaDepartment of Radiology, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaTiantan Image Research Center, National Clinical Research Center for Neurological Diseases, Beijing, ChinaBackgroundNeuronal intranuclear inclusion disease (NIID), which pathogenesis remains largely unclear, is a neurodegenerative disease caused by GGC repeat expansion in NOTCH2NLC gene. As case studies have reported dynamic cortical perfusion changes in NIID, this study aimed to explore the cerebral perfusion pattern in NIID patients.Materials and methodsA total of 38 NIID patients and 34 healthy controls (HCs) were recruited, and 2 NIID patients who had had episodic symptoms within 2 months were excluded. Data on demographic characteristics and clinical features were collected. All participants underwent three-dimensional pseudo-continuous arterial spin labeling perfusion magnetic resonance imaging (MRI) scanning. Voxel-based comparisons of cerebral blood flow (CBF) were conducted.ResultsNIID patients showed decreased perfusion in the cortex but increased perfusion in the deep brain regions compared with HCs. The regions with significant hypoperfusion were distributed in the bilateral frontal, temporal, parietal, and occipital gyri, with the left frontal gyrus being the most prominent. The regions with significant hyperperfusion included the bilateral basal ganglia, midbrain, pons, para-hippocampal, and parts of the bilateral cerebellum, fusiform, lingual, rectus, orbital, and cingulum anterior gyri, which were adjacent to the midline (all FDR-corrected p <0.05). When comparing the mean CBF value of the whole brain, no significant differences were observed between NIID patients and HCs (28.81 ± 10.1 vs. 27.99 ± 5.68 ml/100 g*min, p = 0.666). Voxel-based analysis showed no significant difference in cerebral perfusion between NIID patients with and without episodic symptoms. The perfusion within the bilateral middle frontal and anterior cingulate gyri showed positive correlations with MMSE and MoCA scores using age, sex, and education as covariates (p <0.005 uncorrected).ConclusionNIID patients exhibited characteristic cortical hypoperfusion and deep brain hyperperfusion. The perfusion in the bilateral frontal lobe and cingulate gyrus was correlated with the severity of cognitive dysfunction. Cerebral perfusion change may be involved in NIID pathophysiology and serve as a potential indicator for monitoring NIID severity and progression.https://www.frontiersin.org/articles/10.3389/fnins.2022.1081383/fullneuronal intranuclear inclusion diseasecerebral blood flowarterial spin labelingcortexdeep brain region |
| spellingShingle | Hong-Fei Tai Hong-Fei Tai Tian-Tian Hua Tian-Tian Hua Zai-Qiang Zhang Zai-Qiang Zhang Yun-Yun Duan Yun-Yun Duan Zhi-Zheng Zhuo Zhi-Zheng Zhuo An Wang An Wang Yi Zhou Yi Zhou Shao-Cheng Liu Shao-Cheng Liu Shan Lv Shan Lv Characteristic cerebral perfusion pattern in neuronal intranuclear inclusion disease Frontiers in Neuroscience neuronal intranuclear inclusion disease cerebral blood flow arterial spin labeling cortex deep brain region |
| title | Characteristic cerebral perfusion pattern in neuronal intranuclear inclusion disease |
| title_full | Characteristic cerebral perfusion pattern in neuronal intranuclear inclusion disease |
| title_fullStr | Characteristic cerebral perfusion pattern in neuronal intranuclear inclusion disease |
| title_full_unstemmed | Characteristic cerebral perfusion pattern in neuronal intranuclear inclusion disease |
| title_short | Characteristic cerebral perfusion pattern in neuronal intranuclear inclusion disease |
| title_sort | characteristic cerebral perfusion pattern in neuronal intranuclear inclusion disease |
| topic | neuronal intranuclear inclusion disease cerebral blood flow arterial spin labeling cortex deep brain region |
| url | https://www.frontiersin.org/articles/10.3389/fnins.2022.1081383/full |
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