伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病合并 <i>COL4A2</i> 基因突变一例_West China Medical Journal

Authors：

邱山锋 ¹ , 王立珍 ¹ , 林虹宇 ¹ , 王顺先 ¹ , 谭娟 ¹ , 王培 ¹ , 李阳 ¹ , 解尹红 ¹ , 张俊豪 ¹ , 张磊 ² , 杨双凤 ² ,  魏俊 ³ ,  马英 ¹

1. ;
2. ;
3. ;

Corresponding author：

魏俊, Email: 461301535@qq.com; 马英, Email: yingma1314@126.com

Keywords：

脑小血管疾病; 伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病; 基因突变

DOI：

10.7507/1002-0179.202504014

Video：

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Abstract Full text Figures/Tables Video References Cited by

1.	Bordes C, Sargurupremraj M, Mishra A, et al. Genetics of common cerebral small vessel disease. Nat Rev Neurol, 2022, 18(2): 84-101.
2.	Jolly AA, Nannoni S, Edwards H, et al. Prevalence and predictors of vascular cognitive impairment in patients with CADASIL. Neurology, 2022, 99(5): e453-e461.
3.	Wang MM. CADASIL. Handb Clin Neurol, 2018, 148: 733-743.
4.	Muiño E, Gallego-Fabrega C, Cullell N, et al. Systematic review of cysteine-sparing NOTCH3 missense mutations in patients with clinical suspicion of CADASIL. Int J Mol Sci, 2017, 18(9): 1964.
5.	Mizuno T, Mizuta I, Watanabe-Hosomi A, et al. Clinical and genetic aspects of CADASIL. Front Aging Neurosci, 2020, 12: 91.
6.	Schoemaker D, Arboleda-Velasquez JF. Notch3 signaling and aggregation as targets for the treatment of CADASIL and other NOTCH3-associated small-vessel diseases. Am J Pathol, 2021, 191(11): 1856-1870.
7.	Dupré N, Gueniot F, Domenga-Denier V, et al. Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL. J Clin Invest, 2024, 134(8): e175789.
8.	Kukita K, Matsuzaka N, Takai M, et al. Notch signaling pathway induces expression of type IV collagen in angiogenesis. J Biochem, 2024, 175(5): 539-549.
9.	Kim Y, Bae JS, Lee JY, et al. Genotype and phenotype differences in CADASIL from an Asian perspective. Int J Mol Sci, 2022, 23(19): 11506.
10.	Hu Y, Sun Q, Zhou Y, et al. NOTCH3 variants and genotype-phenotype features in Chinese CADASIL patients. Front Genet, 2021, 12: 705284.
11.	Zhang R, Chen CH, Tezenas Du Montcel S, et al. The CADA-MRIT: an MRI inventory tool for evaluating cerebral lesions in CADASIL across cohorts. Neurology, 2023, 101(17): e1665-e1677.
12.	Jouvent E, Duering M, Chabriat H. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: lessons from neuroimaging. Stroke, 2020, 51(1): 21-28.
13.	van den Brink H, Kopczak A, Arts T, et al. CADASIL affects multiple aspects of cerebral small vessel function on 7T-MRI. Ann Neurol, 2023, 93(1): 29-39.
14.	Duering M, Biessels GJ, Brodtmann A, et al. Neuroimaging standards for research into small vessel disease-advances since 2013. Lancet Neurol, 2023, 22(7): 602-618.
15.	Gollion C, Morel H, Bonneville F. Unilateral leukoencephalopathy revealing cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Ann Neurol, 2022, 91(6): 889-890.
16.	Rajani RM, Ratelade J, Domenga-Denier V, et al. Blood brain barrier leakage is not a consistent feature of white matter lesions in CADASIL. Acta Neuropathol Commun, 2019, 7(1): 187.
17.	Olszewska DA, Rawal S, Fearon C, et al. Neuroimaging pearls from the MDS congress video challenge. Part 1: genetic disorders. Mov Disord Clin Pract, 2022, 9(3): 297-310.
18.	Wang Z, Yuan Y, Zhang W, et al. NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL. J Neurol Neurosurg Psychiatry, 2011, 82(5): 534-539.
19.	Dean A, Agtmael TV. Collagen IV-related diseases and therapies. Cham: Springer, 2021.
20.	Muiño E, Fernández-Cadenas I, Arboix A. Contribution of “omic” studies to the understanding of cadasil. A systematic review. Int J Mol Sci, 2021, 22(14): 7357.
21.	Zagaglia S, Selch C, Nisevic JR, et al. Neurologic phenotypes associated with COL4A1/2 mutations: expanding the spectrum of disease. Neurology, 2018, 91(22): e2078-e2088.
22.	Mancuso M, Arnold M, Bersano A, et al. Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology. Eur J Neurol, 2020, 27(6): 909-927.
23.	McHugh DC, Esenwa C. A novel COL4A2 mutation associated with recurrent strokes. J Stroke Cerebrovasc Dis, 2020, 29(10): 105156.
24.	Hausman-Kedem M, Ben-Sira L, Kidron D, et al. Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations. Eur J Hum Genet, 2021, 29(11): 1654-1662.
25.	Kukita K, Sakaguchi M, Inoue H, et al. Type IV collagen expression is regulated by Notch3-mediated Notch signaling during angiogenesis. Biochem Biophys Res Commun, 2025, 749: 151351.
26.	Dunn PJ, Maksemous N, Smith RA, et al. Targeted exonic sequencing identifies novel variants in a cerebral small vessel disease cohort. Clin Chim Acta, 2025, 567: 120120.
27.	Smith EE, Markus HS. New treatment approaches to modify the course of cerebral small vessel diseases. Stroke, 2020, 51(1): 38-46.
28.	Meschia JF, Worrall BB, Elahi FM, et al. Management of inherited CNS small vessel diseases: the CADASIL example: a scientific statement from the American Heart Association. Stroke, 2023, 54(10): e452-e464.
29.	Manini A, Pantoni L. CADASIL from bench to bedside: disease models and novel therapeutic approaches. Mol Neurobiol, 2021, 58(6): 2558-2573.
30.	Del Gaudio F, Liu D, Lendahl U. Notch signalling in healthy and diseased vasculature. Open Biol, 2022, 12(4): 220004.

1. Bordes C, Sargurupremraj M, Mishra A, et al. Genetics of common cerebral small vessel disease. Nat Rev Neurol, 2022, 18(2): 84-101.
2. Jolly AA, Nannoni S, Edwards H, et al. Prevalence and predictors of vascular cognitive impairment in patients with CADASIL. Neurology, 2022, 99(5): e453-e461.
3. Wang MM. CADASIL. Handb Clin Neurol, 2018, 148: 733-743.
4. Muiño E, Gallego-Fabrega C, Cullell N, et al. Systematic review of cysteine-sparing NOTCH3 missense mutations in patients with clinical suspicion of CADASIL. Int J Mol Sci, 2017, 18(9): 1964.
5. Mizuno T, Mizuta I, Watanabe-Hosomi A, et al. Clinical and genetic aspects of CADASIL. Front Aging Neurosci, 2020, 12: 91.
6. Schoemaker D, Arboleda-Velasquez JF. Notch3 signaling and aggregation as targets for the treatment of CADASIL and other NOTCH3-associated small-vessel diseases. Am J Pathol, 2021, 191(11): 1856-1870.
7. Dupré N, Gueniot F, Domenga-Denier V, et al. Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL. J Clin Invest, 2024, 134(8): e175789.
8. Kukita K, Matsuzaka N, Takai M, et al. Notch signaling pathway induces expression of type IV collagen in angiogenesis. J Biochem, 2024, 175(5): 539-549.
9. Kim Y, Bae JS, Lee JY, et al. Genotype and phenotype differences in CADASIL from an Asian perspective. Int J Mol Sci, 2022, 23(19): 11506.
10. Hu Y, Sun Q, Zhou Y, et al. NOTCH3 variants and genotype-phenotype features in Chinese CADASIL patients. Front Genet, 2021, 12: 705284.
11. Zhang R, Chen CH, Tezenas Du Montcel S, et al. The CADA-MRIT: an MRI inventory tool for evaluating cerebral lesions in CADASIL across cohorts. Neurology, 2023, 101(17): e1665-e1677.
12. Jouvent E, Duering M, Chabriat H. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: lessons from neuroimaging. Stroke, 2020, 51(1): 21-28.
13. van den Brink H, Kopczak A, Arts T, et al. CADASIL affects multiple aspects of cerebral small vessel function on 7T-MRI. Ann Neurol, 2023, 93(1): 29-39.
14. Duering M, Biessels GJ, Brodtmann A, et al. Neuroimaging standards for research into small vessel disease-advances since 2013. Lancet Neurol, 2023, 22(7): 602-618.
15. Gollion C, Morel H, Bonneville F. Unilateral leukoencephalopathy revealing cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Ann Neurol, 2022, 91(6): 889-890.
16. Rajani RM, Ratelade J, Domenga-Denier V, et al. Blood brain barrier leakage is not a consistent feature of white matter lesions in CADASIL. Acta Neuropathol Commun, 2019, 7(1): 187.
17. Olszewska DA, Rawal S, Fearon C, et al. Neuroimaging pearls from the MDS congress video challenge. Part 1: genetic disorders. Mov Disord Clin Pract, 2022, 9(3): 297-310.
18. Wang Z, Yuan Y, Zhang W, et al. NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL. J Neurol Neurosurg Psychiatry, 2011, 82(5): 534-539.
19. Dean A, Agtmael TV. Collagen IV-related diseases and therapies. Cham: Springer, 2021.
20. Muiño E, Fernández-Cadenas I, Arboix A. Contribution of “omic” studies to the understanding of cadasil. A systematic review. Int J Mol Sci, 2021, 22(14): 7357.
21. Zagaglia S, Selch C, Nisevic JR, et al. Neurologic phenotypes associated with COL4A1/2 mutations: expanding the spectrum of disease. Neurology, 2018, 91(22): e2078-e2088.
22. Mancuso M, Arnold M, Bersano A, et al. Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology. Eur J Neurol, 2020, 27(6): 909-927.
23. McHugh DC, Esenwa C. A novel COL4A2 mutation associated with recurrent strokes. J Stroke Cerebrovasc Dis, 2020, 29(10): 105156.
24. Hausman-Kedem M, Ben-Sira L, Kidron D, et al. Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations. Eur J Hum Genet, 2021, 29(11): 1654-1662.
25. Kukita K, Sakaguchi M, Inoue H, et al. Type IV collagen expression is regulated by Notch3-mediated Notch signaling during angiogenesis. Biochem Biophys Res Commun, 2025, 749: 151351.
26. Dunn PJ, Maksemous N, Smith RA, et al. Targeted exonic sequencing identifies novel variants in a cerebral small vessel disease cohort. Clin Chim Acta, 2025, 567: 120120.
27. Smith EE, Markus HS. New treatment approaches to modify the course of cerebral small vessel diseases. Stroke, 2020, 51(1): 38-46.
28. Meschia JF, Worrall BB, Elahi FM, et al. Management of inherited CNS small vessel diseases: the CADASIL example: a scientific statement from the American Heart Association. Stroke, 2023, 54(10): e452-e464.
29. Manini A, Pantoni L. CADASIL from bench to bedside: disease models and novel therapeutic approaches. Mol Neurobiol, 2021, 58(6): 2558-2573.
30. Del Gaudio F, Liu D, Lendahl U. Notch signalling in healthy and diseased vasculature. Open Biol, 2022, 12(4): 220004.

West China Medical Journal

Latest Articles伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病合并 COL4A2 基因突变一例

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