Bibliografías temáticas / HTRA1, small vessel disease, cerebral small vessel disease, CARASIL

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Literatura académica sobre el tema "HTRA1, small vessel disease, cerebral small vessel disease, CARASIL"

Autor: Grafiati
Publicado: 10 de marzo de 2023
Última modificación: 31 de julio de 2025

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Artículos de revistas sobre el tema "HTRA1, small vessel disease, cerebral small vessel disease, CARASIL"

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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2

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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3

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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5

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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6

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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7

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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Tesis sobre el tema "HTRA1, small vessel disease, cerebral small vessel disease, CARASIL"

1

FASANO, ALESSANDRO. "HTRA1 expression and functionality in HTRA1 mutation carriers CARRIERS." Doctoral thesis, 2019. http://hdl.handle.net/2158/1166650.

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High temperature requirement A1 (HTRA1) belongs to heat shock-induced serine proteases and is ubiquitously expressed in normal human adult tissues. HTRA1 plays a modulatory role in various cell processes, particularly regulates the transforming growth factor-β (TGF-ß) signalling. Biallelic mutations in HTRA1 lead to cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), a rare cerebral small vessel disease (CSVD). Nowadays, fifteen HTRA1 mutations have been identified. Recent data reported that heterozygous HTRA1 mutations seem to be linked to
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2

Nappo, Francesco. "Screening of the CTSA gene in a population of NOTH3 and HTRA1 negative patients with Small Vessel Disease." Doctoral thesis, 2020. http://hdl.handle.net/2158/1198725.

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Screening genetico di pazienti affetti da small vessel disease che sono risultati negativi a mutazioni nei geni NOTCH3 e HTRA1, causativi di CADASIL e CARASIL, le forme di SVD più comuni. Mai prima d'ora il gene CTSA è stato associato a questo tipo di malattia.
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