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Journal articles on the topic 'HTRA1, small vessel disease, cerebral small vessel disease, CARASIL'

Author: Grafiati

Published: 10 March 2023

Last updated: 31 July 2025

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1

Müller, Sebastian J., Eya Khadhraoui, Ibrahim Allam, et al. "CARASIL with coronary artery disease and distinct cerebral microhemorrhage: A case report and literature review." Clinical and Translational Neuroscience 4, no. 1 (2020): 2514183X2091418. http://dx.doi.org/10.1177/2514183x20914182.

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Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL, Maeda syndrome) is an extremely rare autosomal-recessive genetic disorder with a serious arteriopathy causing subcortical infarcts and leukoencephalopathy. In less than 20 cases, a genetic mutation was proven. Patients suffer from alopecia, disc herniations, and spondylosis. Between the age of 30 and 40, the patients typically develop severe cerebral infarcts. Clinical symptoms, genetic study, magnetic resonance imaging (MRI), and coronary angiography of a patient with proven CARASIL are prese

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Bougea, Anastasia, George Velonakis, Nikolaos Spantideas, et al. "The first Greek case of heterozygous cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy: An atypical clinico-radiological presentation." Neuroradiology Journal 30, no. 6 (2017): 583–85. http://dx.doi.org/10.1177/1971400917700168.

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Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) was previously considered a rare, early-onset recessive form of small-vessel disease (SVD) caused by biallelic mutations in the serine protease gene HTRA1 with subsequent loss of its activity. However, very recently, there is growing interest of research showing heterozygous HTRA1 mutations as causes of SVD with a dominant inheritance pattern. This first Greek heterozygous CARASIL case with unusual clinico-radiological presentation extends our very recent knowledge on how heterozygous CARASIL

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Oluwole, Olusegun John, Heba Ibrahim, Debora Garozzo, et al. "Cerebral small vessel disease due to a unique heterozygous HTRA1 mutation in an African man." Neurology Genetics 6, no. 1 (2019): e382. http://dx.doi.org/10.1212/nxg.0000000000000382.

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ObjectiveTo describe the case of an African patient who was diagnosed with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).MethodsCase report and literature review.ResultsWe present a 39-year-old Gabonese man who developed progressive gait difficulty at the age of 32, followed by insidious tetraparesis, urinary sphincter disturbance, spastic dysarthria, cognitive dysfunction, and seizures. Brain imaging was performed many years after disease onset and revealed diffuse confluent white matter lesions and lacunar infarcts. He tested negative f

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4

Tan, Rhea YY, Anna M. Drazyk, Kathryn Urankar, et al. "Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)." Practical Neurology 21, no. 5 (2021): 448–51. http://dx.doi.org/10.1136/practneurol-2021-003058.

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A 44-year-old Caucasian man presented with seizures and cognitive impairment. He had marked retinal drusen, and MR brain scan showed features of cerebral small vessel disease; he was diagnosed with a leukoencephalopathy of uncertain cause. He died at the age of 46 years and postmortem brain examination showed widespread small vessel changes described as a vasculopathy of unknown cause. Seven years postmortem, whole-genome sequencing identified a homozygous nonsense HTRA1 mutation (p.Arg302Ter), giving a retrospective diagnosis of cerebral autosomal recessive arteriopathy with subcortical infar

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Yao, Tingyan, Junge Zhu, Xiao Wu, et al. "HeterozygousHTRA1Mutations Cause Cerebral Small Vessel Diseases." Neurology Genetics 8, no. 6 (2022): e200044. http://dx.doi.org/10.1212/nxg.0000000000200044.

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Background and ObjectivesCerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare hereditary cerebrovascular disease caused by homozygous or compound heterozygous variations in the high-temperature requirement A serine peptidase 1 (HTRA1) gene. However, several studies in recent years have found that some heterozygousHTRA1mutations also cause cerebral small vessel disease (CSVD). The current study aims to report the novel genotypes, phenotypes, and histopathologic results of 3 pedigrees of CSVD with heterozygousHTRA1mutation.MethodsThree p

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Kondo, Yasufumi, Tsuneaki Yoshinaga, Katsuya Nakamura, et al. "Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant ofHTRA1." Neurology Genetics 9, no. 1 (2022): e200047. http://dx.doi.org/10.1212/nxg.0000000000200047.

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ObjectiveTo investigate the clinical effect of a heterozygous missense variant ofHTRA1on cerebral small vessel disease (CSVD) in a large Japanese family with a p.A252T variant.MethodsWe performed clinical, laboratory, radiologic, and genetic evaluations of members of a previously reported family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).ResultsTwo family members were previously reported patients with CARASIL. Among 6 uniallelic p.A252T carriers, 2 had neurologic symptoms with brain MRI abnormalities, 2 showed CSVD on the MRI only

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Khandelwal, Dinesh, Vaibhav Mathur, Arvind Vyas, Jaypalsing Ghunawat, and Amit K. Bagaria. "CARASIL – A Review of Patients from India." Neurology India 69, no. 5 (2021): 1359–62. http://dx.doi.org/10.4103/0028-3886.329544.

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Cerebral small vessel disease (CSVD) is a well-known cause of vascular dementia. Though a majority of these cases are sporadic, familial monogenic causes are being frequently identified as well. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare autosomal recessive CSVD, caused by mutation in HTRA 1 gene on chromosome 10q (10q25.3-q26.2) in homozygous or compound heterozygous form. Indian literature has been quite scant with very few case reports of CARASIL, and only three familial cases were confirmed with mutational analysis. Testi

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8

Tan, Rhea, and Hugh Markus. "NEXT GENERATION SEQUENCING IN FAMILIAL CEREBRAL SMALL VESSEL DISEASE - AN ONGOING STUDY." Journal of Neurology, Neurosurgery & Psychiatry 86, no. 11 (2015): e4.106-e4. http://dx.doi.org/10.1136/jnnp-2015-312379.194.

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Cerebral small vessel disease (SVD) is the most common form of stroke and vascular dementia. CADASIL (notch3 mutations) is most frequent but other monogenic causes more recently identified include CARASIL (HTRA1 gene), RVCL (TREX1 gene) and COL4A1 and 2. Diagnostic tests for these are often inaccessible and expensive and there are families with clinical monogenic SVD in whom no known variants are detected.Next generation sequencing offers the potential to screen for these diseases, which present with similar phenotypes, more cost-effectively and rapidly in a single test. It could also identify

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9

B Kale, Gautam, Prajnya Ranganath, and Jagarlapudi M K Murthy. "Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): A rare cause of ischemic stroke in young." Neurology Asia 29, no. 3 (2024): 839–42. http://dx.doi.org/10.54029/2024muu.

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Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is the second known genetic form of cerebral small vessel disease after cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). It is a very rare single gene disorder affecting cerebral small blood vessels. Diagnosis of CARASIL should strongly be suspected in a young non-hypertensive patient with lacunar stroke in the basal ganglia and brainstem and alopecia limited to scalp.

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10

Nozaki, H., A. Koyama, M. Uemura, T. Kato, and O. Onodera. "The prevalence estimates of HTRA1-associated cerebral small vessel disease." Journal of the Neurological Sciences 381 (October 2017): 635. http://dx.doi.org/10.1016/j.jns.2017.08.1790.

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11

Grigaitė, Julija, Kamilė Šiaurytė, Eglė Audronytė, et al. "Novel In-Frame Deletion in HTRA1 Gene, Responsible for Stroke at a Young Age and Dementia—A Case Study." Genes 12, no. 12 (2021): 1955. http://dx.doi.org/10.3390/genes12121955.

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Biallelic mutations in the high-temperature requirement A serine peptidase 1 (HTRA1) gene are known to cause an extremely rare cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), which belongs to the group of hereditary cerebral small vessel diseases and is mainly observed in the Japanese population. Even though this pathology is inherited in an autosomal recessive manner, recent studies have described symptomatic carriers with heterozygous HTRA1 mutations who have milder symptoms than patients with biallelic HTRA1 mutations. We present the ca

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12

Hara, Kenju, Atsushi Shiga, Toshio Fukutake, et al. "Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease." New England Journal of Medicine 360, no. 17 (2009): 1729–39. http://dx.doi.org/10.1056/nejmoa0801560.

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13

Liao, Y. C., N. C. Chao, P. C. Tsai, B. W. Soong, and Y. C. Lee. "Heterozygous HTRA1 mutations in Taiwanese patients with cerebral small vessel disease." Journal of the Neurological Sciences 381 (October 2017): 456. http://dx.doi.org/10.1016/j.jns.2017.08.3496.

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14

Giau, Vo Van, Eva Bagyinszky, Young Chul Youn, Seong Soo A. An, and Sang Yun Kim. "Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome." International Journal of Molecular Sciences 20, no. 17 (2019): 4298. http://dx.doi.org/10.3390/ijms20174298.

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Cerebral small vessel diseases (SVD) have been causally correlated with ischemic strokes, leading to cognitive decline and vascular dementia. Neuroimaging and molecular genetic tests could improve diagnostic accuracy in patients with potential SVD. Several types of monogenic, hereditary cerebral SVD have been identified: cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cathepsin A-related arteriopathy with strokes and leukoencephalopathy (C

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15

Kobayashi, Yuya, Yasufumi Kondo, Ko-ichi Tazawa, et al. "HTRA1-related cerebral small-vessel disease causes cerebral microbleeds on the brainstem surface." Journal of the Neurological Sciences 466 (November 2024): 123229. http://dx.doi.org/10.1016/j.jns.2024.123229.

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16

Thaler, Franziska S., Cihan Catak, Maximilian Einhäupl, et al. "Cerebral small vessel disease caused by a novel heterozygous mutation in HTRA1." Journal of the Neurological Sciences 388 (May 2018): 19–21. http://dx.doi.org/10.1016/j.jns.2018.02.043.

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17

Liu, Guiyou, Haihua Zhang, Bian Liu, and Xunming Ji. "Rs2293871 regulates HTRA1 expression and affects cerebral small vessel stroke and Alzheimer's disease." Brain 142, no. 11 (2019): e61-e61. http://dx.doi.org/10.1093/brain/awz305.

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18

Lee, Yi-Chung, Chih-Ping Chung, Nai-Chen Chao, et al. "Characterization of Heterozygous HTRA1 Mutations in Taiwanese Patients With Cerebral Small Vessel Disease." Stroke 49, no. 7 (2018): 1593–601. http://dx.doi.org/10.1161/strokeaha.118.021283.

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19

Di Donato, Ilaria, Silvia Bianchi, Gian Nicola Gallus, et al. "Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease." CNS Neuroscience & Therapeutics 23, no. 9 (2017): 759–65. http://dx.doi.org/10.1111/cns.12722.

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20

Ohta, Kentaro, Tetsuo Ozawa, Hidehiko Fujinaka, Kiyoe Goto, and Takashi Nakajima. "Cerebral Small Vessel Disease Related to a Heterozygous Nonsense Mutation in HTRA1." Internal Medicine 59, no. 10 (2020): 1309–13. http://dx.doi.org/10.2169/internalmedicine.4041-19.

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21

Tateoka, Toru, Hideaki Onda, Kengo Hirota, et al. "Unusual case of cerebral small vessel disease with a heterozygous nonsense mutation in HTRA1." Journal of the Neurological Sciences 362 (March 2016): 144–46. http://dx.doi.org/10.1016/j.jns.2016.01.037.

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22

Zhang, Wen-ying, Fei Xie, and Pei-lin Lu. "Two novel heterozygous HTRA1 mutations in two pedigrees with cerebral small vessel disease families." Neurological Sciences 39, no. 3 (2018): 497–501. http://dx.doi.org/10.1007/s10072-017-3231-z.

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23

Xu, Sui-Yi, Hui-Juan Li, Shun Li, Qian-Qian Ren, Jian-Lin Liang, and Chang-Xin Li. "Heterozygous Pathogenic and Likely Pathogenic Symptomatic HTRA1 Variant Carriers in Cerebral Small Vessel Disease." International Journal of General Medicine Volume 16 (March 2023): 1149–62. http://dx.doi.org/10.2147/ijgm.s404813.

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24

Rannikmäe, Kristiina, Vhinoth Sivakumaran, Henry Millar, et al. "COL4A2 is associated with lacunar ischemic stroke and deep ICH." Neurology 89, no. 17 (2017): 1829–39. http://dx.doi.org/10.1212/wnl.0000000000004560.

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Objective:To determine whether common variants in familial cerebral small vessel disease (SVD) genes confer risk of sporadic cerebral SVD.Methods:We meta-analyzed genotype data from individuals of European ancestry to determine associations of common single nucleotide polymorphisms (SNPs) in 6 familial cerebral SVD genes (COL4A1, COL4A2, NOTCH3, HTRA1, TREX1, and CECR1) with intracerebral hemorrhage (ICH) (deep, lobar, all; 1,878 cases, 2,830 controls) and ischemic stroke (IS) (lacunar, cardioembolic, large vessel disease, all; 19,569 cases, 37,853 controls). We applied data quality filters an

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Zhang, Haohan, Xiaoming Qin, Yingying Shi, et al. "Genotype–phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review." neurogenetics 22, no. 3 (2021): 187–94. http://dx.doi.org/10.1007/s10048-021-00646-5.

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26

Ito, Junko, Hiroaki Nozaki, Yasuko Toyoshima, et al. "Histopathologic features of an autopsied patient with cerebral small vessel disease and a heterozygous HTRA1 mutation." Neuropathology 38, no. 4 (2018): 428–32. http://dx.doi.org/10.1111/neup.12473.

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27

Kitahara, Sho, Shintaro Tsuboguchi, Masahiro Uemura, Hiroaki Nozaki, Masato Kanazawa, and Osamu Onodera. "Patients with heterozygous HTRA1-related cerebral small vessel disease misdiagnosed with other diseases: Two case reports." Clinical Neurology and Neurosurgery 223 (December 2022): 107502. http://dx.doi.org/10.1016/j.clineuro.2022.107502.

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28

Chojdak-Łukasiewicz, Justyna, Edyta Dziadkowiak, and Sławomir Budrewicz. "Monogenic Causes of Strokes." Genes 12, no. 12 (2021): 1855. http://dx.doi.org/10.3390/genes12121855.

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Strokes are the main cause of death and long-term disability worldwide. A stroke is a heterogeneous multi-factorial condition, caused by a combination of environmental and genetic factors. Monogenic disorders account for about 1% to 5% of all stroke cases. The most common single-gene diseases connected with strokes are cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Fabry disease, mitochondrial myopathy, encephalopathy, lactacidosis, and stroke (MELAS) and a lot of single-gene diseases associated particularly with cerebral small-vessel disea

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Shiga, Atsushi, Hiroaki Nozaki, Akio Yokoseki та ін. "Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-β1 via cleavage of proTGF-β1". Human Molecular Genetics 20, № 9 (2011): 1800–1810. http://dx.doi.org/10.1093/hmg/ddr063.

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Shang, Ty, Marco Pinho, Debarti Ray, and Alka Khera. "Two Unique Mutations in HTRA1-Related Cerebral Small Vessel Disease in North America and Africa and Literature Review." Journal of Stroke and Cerebrovascular Diseases 30, no. 11 (2021): 106029. http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2021.106029.

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31

Tan, Rhea Y. Y., Matthew Traylor, Karyn Megy, et al. "How common are single gene mutations as a cause for lacunar stroke?" Neurology 93, no. 22 (2019): e2007-e2020. http://dx.doi.org/10.1212/wnl.0000000000008544.

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ObjectivesTo determine the frequency of rare and pertinent disease-causing variants in small vessel disease (SVD)-associated genes (such as NOTCH3, HTRA1, COL4A1, COL4A2, FOXC1, TREX1, and GLA) in cerebral SVD, we performed targeted gene sequencing in 950 patients with younger-onset apparently sporadic SVD stroke using a targeted sequencing panel.MethodsWe designed a high-throughput sequencing panel to identify variants in 15 genes (7 known SVD genes, 8 SVD-related disorder genes). The panel was used to screen a population of 950 patients with younger-onset (≤70 years) MRI-confirmed SVD stroke

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Beaufort, Nathalie, Eva Scharrer, Elisabeth Kremmer та ін. "Cerebral small vessel disease-related protease HtrA1 processes latent TGF-β binding protein 1 and facilitates TGF-β signaling". Proceedings of the National Academy of Sciences 111, № 46 (2014): 16496–501. http://dx.doi.org/10.1073/pnas.1418087111.

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Ferguson, Amy Christina, Sophie Thrippleton, David Henshall, et al. "Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants." Neurology Genetics 8, no. 5 (2022): e200015. http://dx.doi.org/10.1212/nxg.0000000000200015.

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Background and ObjectivesBased on previous case reports and disease-based cohorts, a minority of patients with cerebral small vessel disease (cSVD) have a monogenic cause, with many also manifesting extracerebral phenotypes. We investigated the frequency, penetrance, and phenotype associations of putative pathogenic variants in cSVD genes in the UK Biobank (UKB), a large population-based study.MethodsWe used a systematic review of previous literature and ClinVar to identify putative pathogenic rare variants in CTSA, TREX1, HTRA1, and COL4A1/2. We mapped phenotypes previously attributed to thes

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Nozaki, Hiroaki, Masatoyo Nishizawa, and Osamu Onodera. "4. Detection of Novel Dementia-related Genes. 2) Dysregulation of TGF-^|^beta; Family Signaling and Hereditary Cerebral Small Vessel Disease: Insight into Molecular Pathogenesis of CARASIL." Nihon Naika Gakkai Zasshi 100, no. 8 (2011): 2207–13. http://dx.doi.org/10.2169/naika.100.2207.

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Rannikmäe, Kristiina, David E. Henshall, Sophie Thrippleton, et al. "Beyond the Brain." Stroke 51, no. 10 (2020): 3007–17. http://dx.doi.org/10.1161/strokeaha.120.029517.

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Background and Purpose: An important minority of cerebral small vessel disease (cSVD) is monogenic. Many monogenic cSVD genes are recognized to be associated with extracerebral phenotypes. We assessed the frequency of these phenotypes in existing literature. Methods: We performed a systematic review following the PRISMA guidelines (Preferred Reporting Items for Systematic Reviews and Meta-Analyses), searching Medline/Embase for publications describing individuals with pathogenic variants in COL4A1/2 , TREX1 , HTRA1 , ADA2 , and CTSA genes (PROSPERO 74804). We included any publication reporting

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Yoshimoto, Takeshi, Hiroshi Yamagami, and Yuji Matsumaru. "Recent Advances in Stroke Genetics—Unraveling the Complexity of Cerebral Infarction: A Brief Review." Genes 16, no. 1 (2025): 59. https://doi.org/10.3390/genes16010059.

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Background/Objectives: Recent advances in stroke genetics have substantially enhanced our understanding of the complex genetic architecture underlying cerebral infarction and other stroke subtypes. As knowledge in this field expands, healthcare providers must remain informed about these latest developments. This review aims to provide a comprehensive overview of recent advances in stroke genetics, with a focus on cerebral infarction, and discuss their potential impact on patient care and future research directions. Methods: We reviewed recent literature about advances in stroke genetics, focus

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Arnardottir, Snjolaug, Francesca Del Gaudio, Stefanos Klironomos, et al. "Novel Cysteine-Sparing Hypomorphic NOTCH3 A1604T Mutation Observed in a Family With Migraine and White Matter Lesions." Neurology Genetics 7, no. 3 (2021): e584. http://dx.doi.org/10.1212/nxg.0000000000000584.

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ObjectiveTo conduct a clinical study of a family with neurologic symptoms and findings carrying a novel NOTCH3 mutation and to analyze the molecular consequences of the mutation.MethodsWe analyzed a family with complex neurologic symptoms by MRI and neurologic examinations. Exome sequencing of the NOTCH3 locus was conducted, and whole-genome sequencing was performed to identify COL4A1, COL4A2, and HTRA1 mutations. Cell lines expressing the normal or NOTCH3A1604T receptors were analyzed to assess proteolytic processing, cell morphology, receptor routing, and receptor signaling.ResultsCerebral a

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Haffner, Christof. "The emerging role of the HTRA1 protease in brain microvascular disease." Frontiers in Dementia 2 (April 12, 2023). http://dx.doi.org/10.3389/frdem.2023.1146055.

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Pathologies of the brain microvasculature, often referred to as cerebral small-vessel disease, are important contributors to vascular dementia, the second most common form of dementia in aging societies. In addition to their role in acute ischemic and hemorrhagic stroke, they have emerged as major cause of age-related cognitive decline in asymptomatic individuals. A central histological finding in these pathologies is the disruption of the vessel architecture including thickening of the vessel wall, narrowing of the vessel lumen and massive expansion of the mural extracellular matrix. The unde

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Olowu, Adeola, Spence Septien, Alka Khera, Worthy Warnack, and Ty Shang. "Abstract 38: New Mutations Linked to Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts and Leukoencephalopathy in Africa and North America." Stroke 51, Suppl_1 (2020). http://dx.doi.org/10.1161/str.51.suppl_1.38.

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Introduction: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare hereditary disease. It is linked to mutations in the high-temperature requirement A serine peptidase 1 gene ( HTRA1 ). The clinical presentation is characterized by cerebral small vessel disease, alopecia, and spondylosis. CARASIL was initially thought to be a recessive disorder and exclusively exist in Asian populations. The paradigm of CARASIL has recently expanded. Genetically confirmed heterozygous mutations and manifestation in other ethnicities were reported. A fe

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Nozaki, Hiroaki, Taisuke Kato, Megumi Nihonmatsu, et al. "Abstract TP269: Distinct Molecular Mechanisms of Htra1 Mutants in Manifesting Heterozygotes With Carasil." Stroke 48, suppl_1 (2017). http://dx.doi.org/10.1161/str.48.suppl_1.tp269.

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Introduction: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), an autosomal recessive inherited cerebral small vessel disease (CSVD), involves severe leukoaraiosis, multiple lacunar infarcts, early-onset alopecia, and spondylosis deformans. High-temperature requirement serine peptidase A1 (HTRA1) gene mutations cause CARASIL by decreasing HTRA1 protease activity. Although CARASIL is a recessive inherited disease, heterozygous mutations in the HTRA1 gene were recently identified in 11 families with CSVD. Because CSVD is frequently observed i

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Chen, Mei-Jiao, Yi Zhang, Wen-Jiao Luo, et al. "Identified novel heterozygous HTRA1 pathogenic variants in Chinese patients with HTRA1-associated dominant cerebral small vessel disease." Frontiers in Genetics 13 (August 10, 2022). http://dx.doi.org/10.3389/fgene.2022.909131.

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Background: Homozygous and compound heterozygous mutations in HTRA1 cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Recently, heterozygous pathogenic variants in HTRA1 were described in patients with autosomal dominant cerebral small vessel disease (CSVD). Here, we investigated the genetic variants in a cohort of Chinese patients with CSVD.Methods: A total of 95 Chinese index patients with typical characteristics of CSVD were collected. Whole exome sequencing was performed in the probands, followed by Sanger sequencing. Pathogenicity

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Uemura, Masahiro, Hiroaki Nozaki, Yumi Sekine, et al. "Abstract TMP92: Characteristic Brain MRI Features of Manifesting Heterozygotes With Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts and Leukoencephalopathy." Stroke 48, suppl_1 (2017). http://dx.doi.org/10.1161/str.48.suppl_1.tmp92.

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Introduction: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a cerebral small-vessel disease (CSVD). Mutations in the high-temperature requirement serine peptidase A1 gene ( HTRA1 ) cause CARASIL via a decrease in protease activity of HTRA1. Although most of the heterozygotes with the HTRA1 mutation are healthy, manifesting heterozygotes have been reported. We have elucidated that the mutant HTRA1s that develops CSVD in a heterozygote state have a distinct molecular mechanism, resulting in the dominant negative effect. These individuals

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Chen, Weijie, Yuanyuan Wang, Shengwen Huang, Xiaoli Yang, Liwei Shen, and Danhong Wu. "Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review." Frontiers in Neurology 13 (December 22, 2022). http://dx.doi.org/10.3389/fneur.2022.1069453.

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BackgroundHomozygous or compound heterozygous mutations in the high-temperature requirement A serine protease 1 gene (HTRA1) elicits cerebral autosomal recessive arteriopathy with subcortical infarcts and white matter lesions (CARASIL). The relationship between some heterozygous mutations, most of which are missense ones, and the occurrence of cerebral small vessel diseases (CSVD) has been reported. Recently, heterozygous HTRA1 nonsense mutations have been recognized to be pathogenic.Case presentationWe described two Chinese patients diagnosed with HTRA1-CSVD accompanied by heterozygous nonsen

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Qian, Emi, Masahiro Uemura, Hiroya Kobayashi, et al. "A human induced pluripotent stem cell model from a patient with hereditary cerebral small vessel disease carrying a heterozygous R302Q mutation in HTRA1." Inflammation and Regeneration 43, no. 1 (2023). http://dx.doi.org/10.1186/s41232-023-00273-7.

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AbstractCerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an inherited cerebral small vessel disease (CSVD) caused by biallelic mutations in the high-temperature requirement serine peptidase A1 (HTRA1) gene. Even heterozygous mutations in HTRA1 are recently revealed to cause cardinal clinical features of CSVD. Here, we report the first establishment of a human induced pluripotent stem cell (hiPSC) line from a patient with heterozygous HTRA1-related CSVD. Peripheral blood mononuclear cells (PBMCs) were reprogrammed by the transfection of ep

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Liao, Yi-Chu, Cheng-Yu Wei, Fu-Pang Chang, et al. "NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy." Stroke, March 21, 2023. http://dx.doi.org/10.1161/strokeaha.122.041848.

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BACKGROUND: Neuronal intranuclear inclusion disease (NIID), caused by GGC (guanine-guanine-cytosine) repeat expansion in NOTCH2NLC , has several clinical and radiological features akin to cerebral small vessel disease (cSVD). The present study tested the hypothesis that NOTCH2NLC GGC expansion may contribute to cSVD. METHODS: One hundred and ninety-seven unrelated patients with genetically unsolved vascular leukoencephalopathy without NOTCH3 , HTRA1 , and mitochondrial m.3243A>G mutations and 730 healthy individuals were screened for NOTCH2NLC GGC repeat expansion using repeat-primed polyme

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N., Venkateswaramurthy A. Abinaya. "CADASIL AND CARASIL: A MUTATED HEREDITARY LEUKOENCEPHALOPATHY – NEW FINDINGS." April 16, 2025. https://doi.org/10.5281/zenodo.15229010.

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Aim: To explore recent discoveries related to CADASIL and CARASIL, rare hereditary cerebral small vessel diseases caused by mutations, and to assess their implications for diagnosis, management, and understanding of leukoencephalopathy. Background: CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) and CARASIL (Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) are genetic disorders primarily affecting the brain’s small blood vessels. CADASIL results from NOTCH3 

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Liu, Jing-Yi, Yi-Cheng Zhu, Li-Xin Zhou, et al. "HTRA1-related autosomal dominant cerebral small vessel disease." Chinese Medical Journal Publish Ahead of Print (October 26, 2020). http://dx.doi.org/10.1097/cm9.0000000000001176.

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Whittaker, Ed, Sophie Thrippleton, Liza Y. W. Chong, et al. "Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small‐Vessel Disease." Journal of the American Heart Association, June 14, 2022. http://dx.doi.org/10.1161/jaha.121.025629.

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Background Cerebral small‐vessel disease (cSVD) is an important cause of stroke and vascular dementia. Most cases are multifactorial, but an emerging minority have a monogenic cause. While NOTCH3 is the best‐known gene, several others have been reported. We aimed to summarize the cerebral phenotypes associated with these more recent cSVD genes. Methods and Results We performed a systematic review (PROSPERO [International Prospective Register of Systematic Reviews]: CRD42020196720), searching Medline/Embase (conception to July 2020) for any language publications describing COL4A1/2 , TREX1 , HT

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Yamashiro, Masataka, Daigo Yasutomi, Yuichiro Ohya, Satoshi Ohyama, Hiroshi Takashima, and Takashi Tokashiki. "A case of coexisting heterozygous NOTCH3 and HTRA1 mutations in cerebral small vessel disease." Human Genome Variation 12, no. 1 (2025). https://doi.org/10.1038/s41439-025-00317-z.

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Abstract Hereditary cerebral small vessel diseases (CSVDs) include cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) caused by NOTCH3, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy caused by biallelic HTRA1, and heterozygous HTRA1-related CSVD. Here we report a case of a 53-year-old Japanese woman with coexisting NOTCH3 p.R75P and HTRA1 p.R166L mutations, each in the heterozygote. She presented with early-onset spastic paraparesis, frequent urination, cognitive impairment and baldness. We compared

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Donadio, V. "Cutaneous Sensory and Autonomic Small Fiber Neuropathy in HTRA1-Related Cerebral Small Vessel Disease." August 26, 2021. https://doi.org/10.1093/jnen/nlaa150.

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