Articles de revues : « CARASIL »

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Haffner, Christof, et Harry V. Vinters. « CADASIL, CARASIL, CARASAL ». Neurology 87, n^o 17 (24 septembre 2016) : 1752–53. http://dx.doi.org/10.1212/wnl.0000000000003271.

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Müller, Sebastian J., Eya Khadhraoui, Ibrahim Allam, Loukas Argyriou, Ute Hehr, Jan Liman, Gerd Hasenfuß, Mathias Bähr, Christian H. Riedel et Jan C. Koch. « CARASIL with coronary artery disease and distinct cerebral microhemorrhage : A case report and literature review ». Clinical and Translational Neuroscience 4, n^o 1 (1 janvier 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 presented. The patient showed the typical phenotype with cerebral small-vessel disease, cerebral infarcts, spondylosis, and abnormal hair loss. Additionally, distinct cerebral microhemorrhage and a severe coronary artery disease (CAD) were found, which have not been reported before for CARASIL. Mutation screening revealed the presence of a homozygous c.1022G > T substitution in the HTRA1 gene. Evidence from other publications supports a pathogenetic link between the HTRA1 mutation and CAD as a new feature of CARASIL. This is the first report about CARASIL with a concomitant severe CAD. Thus, in patients with CARASIL, other vessel diseases should also be considered.

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Tikka, Saara, Marc Baumann, Maija Siitonen, Petra Pasanen, Minna Pöyhönen, Liisa Myllykangas, Matti Viitanen et al. « CADASIL and CARASIL ». Brain Pathology 24, n^o 5 (septembre 2014) : 525–44. http://dx.doi.org/10.1111/bpa.12181.

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Ibrahimi, Muhammad, Hiroaki Nozaki, Angelica Lee, Osamu Onodera, Raymond Reichwein, Matthew Wicklund et Mohammad El-Ghanem. « A CARASIL Patient from Americas with Novel Mutation and Atypical Features : Case Presentation and Literature Review ». Cerebrovascular Diseases 44, n^o 3-4 (2017) : 135–40. http://dx.doi.org/10.1159/000477358.

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Objective: Reporting a novel mutation in the HTRA1 gene in a CARASIL patient from Americas. Methods: Clinical presentation and neuroimaging were consistent with CARASIL. HTRA1 DNA sequencing was performed using advanced (“next generation”) sequencing technology. The results revealed a homozygous missense mutation as c.616G>A (p.Gly206Arg) in the HTRA1 gene. Results: A 24-year-old man with a history of chronic back pain presented with recurrent ischemic strokes. A diagnosis of CARASIL was made with the finding of a novel homozygous missense mutation c.616G>A in HTRA1 gene, resulting in change from Glycine to Arginine in the Serine Protease HTRA1. Brain imaging showed multiple lacunar infarcts with extensive abnormalities of the white matter that spared the external capsules. He also had unilateral decreased hearing with craniofacial asymmetry. None of the above features have been previously described in known CARASIL patients. Both parents of the proband were heterozygous for the same missense mutation. Conclusion: We discovered a novel missense mutation (c.616G>A) associated with a phenotype of CARASIL. This is the first genetically backed case of CARASIL in the new world. The patient's craniofacial abnormalities, including asymmetry of the head, may be related to impaired modulation of transforming growth factor-β1, the result of loss of proteolytic activity of HTRA1. External capsules remained unaffected, despite findings of advanced changes in the rest of the cerebral white matter. Literature is briefly reviewed. The patient's history, neurological exam, neuroimaging, and genetic testing are included.

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Menezes Cordeiro, Inês, Hipólito Nzwalo, Francisca Sá, Rita Bastos Ferreira, Isabel Alonso, Luís Afonso et Carlos Basílio. « Shifting the CARASIL Paradigm ». Stroke 46, n^o 4 (avril 2015) : 1110–12. http://dx.doi.org/10.1161/strokeaha.114.006735.

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Bougea, Anastasia, George Velonakis, Nikolaos Spantideas, Evangelos Anagnostou, George Paraskevas, Elisabeth Kapaki et Evangelia Kararizou. « The first Greek case of heterozygous cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy : An atypical clinico-radiological presentation ». Neuroradiology Journal 30, n^o 6 (12 avril 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 mutations may be associated with cerebral SVD. Our findings highlight heterozygous HTRA1 mutations as an important cause of familial SVD, and that screening of HTRA1 should be considered in all patients with a hereditary SVD of unknown aetiology.

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Nozaki, Hiroaki. « Consideration of the pathogenesis of CARASIL ». Rinsho Shinkeigaku 52, n^o 11 (2012) : 1360–62. http://dx.doi.org/10.5692/clinicalneurol.52.1360.

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Fukutake, Toshio. « CARASIL : Identification of the clinical concept ». Rinsho Shinkeigaku 50, n^o 11 (2010) : 849–51. http://dx.doi.org/10.5692/clinicalneurol.50.849.

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Kondo, Yasufumi, Tsuneaki Yoshinaga, Katsuya Nakamura, Tomomi Yamaguchi, Masumi Ishikawa, Tomoki Kosho et Yoshiki Sekijima. « Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant ofHTRA1 ». Neurology Genetics 9, n^o 1 (15 décembre 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, and the other 2 were unaffected. Clinical phenotypes of 2 heterozygous patients were comparable with those of patients with CARASIL, whereas the other 3 heterozygous patients had developed milder and later-onset CSVD. One heterozygous carrier was asymptomatic.DiscussionPrevious studies have suggested that uniallelic p.A252T causes disease. However, our study revealed that patients with uniallelic p.A252T can have severe and young-onset CSVD. The clinical manifestations of uniallelic variant carriers were highly variable, even within the same family. Male and atherosclerotic risk factors were considered to be additional factors in the severity of neurologic symptoms in uniallelic p.A252T carriers, suggesting that strict control of vascular risk factors can prevent vascular events in uniallelicHTRA1carriers.

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Oluwole, Olusegun John, Heba Ibrahim, Debora Garozzo, Karim Ben Hamouda, Saly Ismail Mostafa Hassan, Ahmed Metwaly Hegazy et Abdul Karim Msaddi. « Cerebral small vessel disease due to a unique heterozygous HTRA1 mutation in an African man ». Neurology Genetics 6, n^o 1 (26 décembre 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 for acquired white matter disease, but genetic screening detected a genetic variant of HTRA1 gene (G283R), which has not been previously reported.ConclusionsCARASIL is a disease that usually affects Asian patients. This case report describes a unique case of an African patient diagnosed with CARASIL and a novel genetic mutation in HTRA1 that has not been previously described in the literature.

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Ziaei, Amin, Xiaohong Xu, Leila Dehghani, Carine Bonnard, Andreas Zellner, Alvin Yu Jin Ng, Sumanty Tohari et al. « Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features ». Neurology Genetics 5, n^o 4 (8 juillet 2019) : e345. http://dx.doi.org/10.1212/nxg.0000000000000345.

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ObjectiveTo investigate the possible involvement of germline mutations in a neurologic condition involving diffuse white matter lesions.MethodsThe patients were 3 siblings born to healthy parents. We performed homozygosity mapping, whole-exome sequencing, site-directed mutagenesis, and immunoblotting.ResultsAll 3 patients showed clinical manifestations of ataxia, behavioral and mood changes, premature hair loss, memory loss, and lower back pain. In addition, they presented with inflammatory-like features and recurrent rhinitis. MRI showed abnormal diffuse demyelination lesions in the brain and myelitis in the spinal cord. We identified an insertion in high-temperature requirement A (HTRA1), which showed complete segregation in the pedigree. Functional analysis showed the mutation to affect stability and secretion of truncated protein.ConclusionsThe patients' clinical manifestations are consistent with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL; OMIM #600142), which is known to be caused by HTRA1 mutations. Because some aspects of the clinical presentation deviate from those reported for CARASIL, our study expands the spectrum of clinical consequences of loss-of-function mutations in HTRA1.

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Bianchi, S., C. Di Palma, G. N. Gallus, I. Taglia, A. Poggiani, F. Rosini, A. Rufa et al. « Two novel HTRA1 mutations in a European CARASIL patient ». Neurology 82, n^o 10 (5 février 2014) : 898–900. http://dx.doi.org/10.1212/wnl.0000000000000202.

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Nozaki, Hiroaki, Taisuke Kato, Megumi Nihonmatsu, Yohei Saito, Ikuko Mizuta, Tomoko Noda, Ryoko Koike et al. « Distinct molecular mechanisms ofHTRA1mutants in manifesting heterozygotes with CARASIL ». Neurology 86, n^o 21 (27 avril 2016) : 1964–74. http://dx.doi.org/10.1212/wnl.0000000000002694.

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Arima, Kunimasa, Sohei Yanagawa, Nobuo Ito et Shu-ichi Ikeda. « Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome) ». Neuropathology 23, n^o 4 (décembre 2003) : 327–34. http://dx.doi.org/10.1046/j.1440-1789.2003.00519.x.

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Shibata, Mamoru. « Clinical manifestations and neuroradiological findings of CARASIL with a novel mutation ». Rinsho Shinkeigaku 52, n^o 11 (2012) : 1363–64. http://dx.doi.org/10.5692/clinicalneurol.52.1363.

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Giau, Vo Van, Eva Bagyinszky, Young Chul Youn, Seong Soo A. An et Sang Yun Kim. « Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome ». International Journal of Molecular Sciences 20, n^o 17 (3 septembre 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 (CARASAL), hereditary diffuse leukoencephalopathy with spheroids (HDLS), COL4A1/2-related disorders, and Fabry disease. These disorders can be distinguished based on their genetics, pathological and imaging findings, clinical manifestation, and diagnosis. Genetic studies of sporadic cerebral SVD have demonstrated a high degree of heritability, particularly among patients with young-onset stroke. Common genetic variants in monogenic disease may contribute to pathological progress in several cerebral SVD subtypes, revealing distinct genetic mechanisms in different subtype of SVD. Hence, genetic molecular analysis should be used as the final gold standard of diagnosis. The purpose of this review was to summarize the recent discoveries made surrounding the genetics of cerebral SVD and their clinical significance, to provide new insights into the pathogenesis of cerebral SVD, and to highlight the possible convergence of disease mechanisms in monogenic and sporadic cerebral SVD.

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Devaraddi, Navalli, G. Jayalakshmi et NarayanR Mutalik. « CARASIL, a rare genetic cause of stroke in the young ». Neurology India 66, n^o 1 (2018) : 232. http://dx.doi.org/10.4103/0028-3886.222859.

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Tan, Rhea YY, Anna M. Drazyk, Kathryn Urankar, Clare Bailey, Stefan Gräf, Hugh Markus et Nicola J. Giffin. « Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) ». Practical Neurology 21, n^o 5 (25 août 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 infarcts and leukoencephalopathy.

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Wang, Xiao-Ling, Chuan-Fen Li, Hong-Wei Guo et Bing-Zhen Cao. « A Novel Mutation in theHTRA1Gene Identified in Chinese CARASIL Pedigree ». CNS Neuroscience & ; Therapeutics 18, n^o 10 (20 août 2012) : 867–69. http://dx.doi.org/10.1111/j.1755-5949.2012.00373.x.

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Nozaki, Hiroaki, Yumi Sekine, Toshio Fukutake, Yoshinori Nishimoto, Yutaka Shimoe, Akiko Shirata, Sohei Yanagawa et al. « Characteristic features and progression of abnormalities on MRI for CARASIL ». Neurology 85, n^o 5 (2 juillet 2015) : 459–63. http://dx.doi.org/10.1212/wnl.0000000000001803.

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Urata, Masaaki, Hiromasa Uchimura, Haruko Noguchi, Tomoya Sakaguchi, Tetsuo Takemura, Kaori Eto, Hiroshi Habe, Toshio Omori, Hisakazu Yamane et Hideaki Nojiri. « Plasmid pCAR3 Contains Multiple Gene Sets Involved in the Conversion of Carbazole to Anthranilate ». Applied and Environmental Microbiology 72, n^o 5 (mai 2006) : 3198–205. http://dx.doi.org/10.1128/aem.72.5.3198-3205.2006.

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ABSTRACT The carbazole degradative car-I gene cluster (carAaIBaIBbICIAcI) of Sphingomonas sp. strain KA1 is located on the 254-kb circular plasmid pCAR3. Carbazole conversion to anthranilate is catalyzed by carbazole 1,9a-dioxygenase (CARDO; CarAaIAcI), meta-cleavage enzyme (CarBaIBbI), and hydrolase (CarCI). CARDO is a three-component dioxygenase, and CarAaI and CarAcI are its terminal oxygenase and ferredoxin components. The car-I gene cluster lacks the gene encoding the ferredoxin reductase component of CARDO. In the present study, based on the draft sequence of pCAR3, we found multiple carbazole degradation genes dispersed in four loci on pCAR3, including a second copy of the car gene cluster (carAaIIBaIIBbIICIIAcII) and the ferredoxin/reductase genes fdxI-fdrI and fdrII. Biotransformation experiments showed that FdrI (or FdrII) could drive the electron transfer chain from NAD(P)H to CarAaI (or CarAaII) with the aid of ferredoxin (CarAcI, CarAcII, or FdxI). Because this electron transfer chain showed phylogenetic relatedness to that consisting of putidaredoxin and putidaredoxin reductase of the P450cam monooxygenase system of Pseudomonas putida, CARDO systems of KA1 can be classified in the class IIA Rieske non-heme iron oxygenase system. Reverse transcription-PCR (RT-PCR) and quantitative RT-PCR analyses revealed that two car gene clusters constituted operons, and their expression was induced when KA1 was exposed to carbazole, although the fdxI-fdrI and fdrII genes were expressed constitutively. Both terminal oxygenases of KA1 showed roughly the same substrate specificity as that from the well-characterized carbazole degrader Pseudomonas resinovorans CA10, although slight differences were observed.

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Souza, Paulo Victor Sgobbi de, Wladimir Bocca Vieira de Rezende Pinto et Acary Souza Bulle Oliveira. « Lumbago and alopecia in a patient with leukodystrophy : think on CARASIL ». Arquivos de Neuro-Psiquiatria 74, n^o 7 (juillet 2016) : 599–600. http://dx.doi.org/10.1590/0004-282x20160076.

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Nishimoto, Y., M. Shibata, O. Onodera et N. Suzuki. « Neuroaxonal integrity evaluated by MR spectroscopy in a case of CARASIL ». Journal of Neurology, Neurosurgery & ; Psychiatry 82, n^o 8 (28 mars 2011) : 860–61. http://dx.doi.org/10.1136/jnnp.2010.240051.

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Kono, Y., K. Nisioka, Y. Komatuzaki, Y. Ito, Y. Li, H. Yoshino, R. Tanaka, N. Hattori et Y. Iguchi. « CADASIL type 2 in two families prsenting mimic symptoms of CARASIL ». Journal of the Neurological Sciences 381 (octobre 2017) : 384. http://dx.doi.org/10.1016/j.jns.2017.08.3299.

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Kono, Yu, Kenya Nishioka, Yuanzhe Li, Yo Komatuzaki, Yuta Ito, Hiroyo Yoshino, Ryota Tanaka, Yasuyuki Iguchi et Nobutaka Hattori. « Heterozygous HTRA1 mutations with mimicking symptoms of CARASIL in two families ». Clinical Neurology and Neurosurgery 172 (septembre 2018) : 174–76. http://dx.doi.org/10.1016/j.clineuro.2018.07.009.

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Mendioroz, M., I. Fernandez-Cadenas, A. del Rio-Espinola, A. Rovira, E. Sole, M. T. Fernandez-Figueras, V. Garcia-Patos et al. « A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population ». Neurology 75, n^o 22 (29 novembre 2010) : 2033–35. http://dx.doi.org/10.1212/wnl.0b013e3181ff96ac.

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Nishimoto, Y., M. Shibata, M. Nihonmatsu, H. Nozaki, A. Shiga, A. Shirata, K. Yamane et al. « A novel mutation in the HTRA1 gene causes CARASIL without alopecia ». Neurology 76, n^o 15 (11 avril 2011) : 1353–55. http://dx.doi.org/10.1212/wnl.0b013e318215281d.

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Santana, Larissa Marques, Eduardo de Jesus Agapito Valadares et Marcos Rosa-Júnior. « Differential diagnosis of temporal lobe lesions with hyperintense signal on T2-weighted and FLAIR sequences : pictorial essay ». Radiologia Brasileira 53, n^o 2 (avril 2020) : 129–36. http://dx.doi.org/10.1590/0100-3984.2018.0117.

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Abstract Various neuropathologies produce hyperintense signals on T2-weighted or fluid-attenuated inversion recovery sequences of the temporal lobes. Recognition of the distribution pattern and associated findings may narrow the spectrum of differential diagnoses or suggest a specific disease. This pictorial essay aims to illustrate the relatively common diseases that affect the temporal lobe, such as herpes simplex encephalitis, neurosyphilis, limbic encephalitis, postictal edema, neoplasia, and multiple sclerosis, as well as those that are less common, such as myotonic dystrophy type 1, CADASIL, and CARASIL, together with the particularities of each entity.

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Yu, Zhaoping, Shugang Cao, Aimei Wu, Hong Yue, Chi Zhang, Juan Wang, Mingwu Xia et Juncang Wu. « Genetically Confirmed CARASIL : Case Report with Novel HTRA1 Mutation and Literature Review ». World Neurosurgery 143 (novembre 2020) : 121–28. http://dx.doi.org/10.1016/j.wneu.2020.05.128.

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Xie, Fei, et Li-san Zhang. « A Chinese CARASIL Patient Caused by Novel Compound Heterozygous Mutations in HTRA1 ». Journal of Stroke and Cerebrovascular Diseases 27, n^o 10 (octobre 2018) : 2840–42. http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2018.06.017.

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Preethish-Kumar, Veeramani, Hiroaki Nozaki, Sarbesh Tiwari, Seena Vengalil, Maya Bhat, Chandrajit Prasad, Osamu Onodera et al. « CARASIL families from India with 3 novel null mutations in the HTRA1 gene ». Neurology 89, n^o 23 (3 novembre 2017) : 2392–94. http://dx.doi.org/10.1212/wnl.0000000000004710.

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Beaufort, Nathalie, Eva Scharrer, Vanda Lux, Michael Ehrmann, Christof Haffner et Martin Dichgans. « Reply to Liu et al. : Loss of TGF-β signaling in CARASIL pathogenesis ». Proceedings of the National Academy of Sciences 112, n^o 14 (13 mars 2015) : E1694. http://dx.doi.org/10.1073/pnas.1501817112.

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Bianchi, S., C. Di Palma, G. N. Gallus, I. Taglia, A. Poggiani, F. Rosini, A. Cerase et al. « Two new heterozygous mutations of Htra1 gene in a Caucasian patient affected by CARASIL ». Journal of the Neurological Sciences 333 (octobre 2013) : e660. http://dx.doi.org/10.1016/j.jns.2013.07.2286.

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Federico, Antonio. « Update on genetic small vessel diseases, CADASIL and CARASIL (from bed to bench and converse) ». Journal of the Neurological Sciences 429 (octobre 2021) : 118034. http://dx.doi.org/10.1016/j.jns.2021.118034.

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Fukutake, Toshio. « Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL) : From Discovery to Gene Identification ». Journal of Stroke and Cerebrovascular Diseases 20, n^o 2 (mars 2011) : 85–93. http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2010.11.008.

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Yao, Tingyan, Junge Zhu, Xiao Wu, Xuying Li, Yongjuan Fu, Yuan Wang, Zhanjun Wang et al. « HeterozygousHTRA1Mutations Cause Cerebral Small Vessel Diseases ». Neurology Genetics 8, n^o 6 (décembre 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 pedigrees of familiar CSVD, including 11 symptomatic patients and 3 asymptomatic carriers, were enrolled. Whole-exome sequencing was conducted in the probands for identifying rare variants, which were then evaluated for pathogenicity according to the American College of Medical Genetics and Genomics guidelines. Sanger sequencing was performed for validation of mutations in the probands and other family members. The protease activity was assayed for the novel mutations. All the participants received detailed clinical and imaging examinations and the corresponding results were concluded. Hematoma evacuation was performed for an intracerebral hemorrhage patient with the p.Q318H mutation, and the postoperative pathology including hematoma and cerebral small vessels were examined.ResultsThree novel heterozygousHTRA1mutations (p.Q318H, p.V279M, and p.R274W) were detected in the 3 pedigrees. The protease activity was largely lost for all the mutations, confirming that they were loss-of-function mutations. The patients in each pedigree presented with typical clinical and imaging features of CVSD, and some of them displayed several new phenotypes including color blindness, hydrocephalus, and multiple arachnoid cysts. In addition, family 1 is the largest pedigree with heterozygousHTRA1mutation so far and includes homozygous twins, displaying some variation in clinical phenotypes. More importantly, pathologic study of a patient with p.Q318H mutation showed hyalinization, luminal stenosis, loss of smooth muscle cells, splitting of the internal elastic lamina, and intramural hemorrhage/dissection-like structures.DiscussionThese findings broaden the mutational and clinical spectrum of heterozygousHTRA1-related CSVD. Pathologic features were similar with the previous heterozygous and homozygous cases. Moreover, clinical heterogeneity was revealed within the largest single family, and the mechanisms of the phenotypic heterogenetic remain unclear. Overall, heterozygous HTRA1-related CSVD should not be simply taken as a mild type of CARASIL as previously considered.

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Chojdak-Łukasiewicz, Justyna, Edyta Dziadkowiak et Sławomir Budrewicz. « Monogenic Causes of Strokes ». Genes 12, n^o 12 (23 novembre 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 disease, such as COL4A1 syndrome, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), and Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). In this article the clinical phenotype for the most important single-gene disorders associated with strokes are presented. The monogenic causes of a stroke are rare, but early diagnosis is important in order to provide appropriate therapy when available.

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Khaleeli, Zhaleh, Zane Jaunmuktane, Nathalie Beaufort, Henry Houlden, Christof Haffner, Sebastian Brandner, Martin Dichgans et David Werring. « A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient ». Journal of Neurology 262, n^o 5 (mai 2015) : 1369–72. http://dx.doi.org/10.1007/s00415-015-7769-5.

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Cai, Bin, Jiabin Zeng, Yi Lin, Yu Lin, WenPing Lin, Wei Lin, Zhiwen Li et Ning Wang. « A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population ». Neurological Sciences 36, n^o 8 (13 mars 2015) : 1387–91. http://dx.doi.org/10.1007/s10072-015-2121-5.

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Zheng, D. M., F. F. Xu, Y. Gao, H. Zhang, S. C. Han et G. R. Bi. « A Chinese pedigree of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) : Clinical and radiological features ». Journal of Clinical Neuroscience 16, n^o 6 (juin 2009) : 847–49. http://dx.doi.org/10.1016/j.jocn.2008.08.031.

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Nakazato, Yoshihiko, Aya Ohkuma, Yoshikazu Mizoi, Naotoshi Tamura et Kunio Shimazu. « Late-onset leukoencephalopathy without hypertension in a case of young-adult-onset alopecia and spondylosis : a variant of CARASIL ? » Rinsho Shinkeigaku 48, n^o 6 (2008) : 406–9. http://dx.doi.org/10.5692/clinicalneurol.48.406.

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Grigaitė, Julija, Kamilė Šiaurytė, Eglė Audronytė, Eglė Preikšaitienė, Birutė Burnytė, Erinija Pranckevičienė, Aleksandra Ekkert, Algirdas Utkus et Dalius Jatužis. « Novel In-Frame Deletion in HTRA1 Gene, Responsible for Stroke at a Young Age and Dementia—A Case Study ». Genes 12, n^o 12 (7 décembre 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 case of a Lithuanian male patient who had a stroke at the age of 36, experienced several transient ischemic attacks, and developed an early onset, progressing dementia. These clinical symptoms were associated with extensive leukoencephalopathy, lacunar infarcts, and microbleeds based on brain magnetic resonance imaging (MRI). A novel heterozygous in-frame HTRA1 gene deletion (NM_002775.5:c.533_535del; NP_002766.1:p.(Lys178del)) was identified by next generation sequencing. The variant was consistent with the patient’s phenotype, which could not be explained by alternative causes, appeared highly deleterious after in silico analysis, and was not reported in the medical literature or population databases to date.

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Tan, Rhea, et Hugh Markus. « NEXT GENERATION SEQUENCING IN FAMILIAL CEREBRAL SMALL VESSEL DISEASE - AN ONGOING STUDY ». Journal of Neurology, Neurosurgery & ; Psychiatry 86, n^o 11 (14 octobre 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 novel genes underlying SVD. As part of the NHS GEL and NIHR BRIDGE projects, whole genome sequencing is being applied to SVD. Individuals with younger onset SVD and a family history, with negative notch3 screening, are being recruited from centres throughout England.Data (blood sample and phenotypic information) can be collected by phone and blood sent through the post, or participants seen at a research clinic in one of the seven recruitment sites. Testing is provided free of charge. Any SVD causative mutations are fed back to the patient via the referring clinician. We are interested in receiving potential recruits who can be referred to Rhea Tan yyrt2@medschl.cam.ac.uk.

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Liu, Ju, Fengyun Dong et Josephine Hoh. « Loss of HtrA1-induced attenuation of TGF-β signaling in fibroblasts might not be the main mechanism of CARASIL pathogenesis ». Proceedings of the National Academy of Sciences 112, n^o 14 (13 mars 2015) : E1693. http://dx.doi.org/10.1073/pnas.1500911112.

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Favaretto, Silvia, Monica Margoni, Leonardo Salviati, Luigi Pianese, Renzo Manara et Claudio Baracchini. « A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL : Are we pointing towards a disease spectrum ? » Journal of the Neurological Sciences 396 (janvier 2019) : 108–11. http://dx.doi.org/10.1016/j.jns.2018.11.008.

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Oide, Takashi, Hiroshi Nakayama, Sohei Yanagawa, Nobuo Ito, Shu-ichi Ikeda et Kunimasa Arima. « Extensive loss of arterial medial smooth muscle cells and mural extracellular matrix in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) ». Neuropathology 28, n^o 2 (avril 2008) : 132–42. http://dx.doi.org/10.1111/j.1440-1789.2007.00864.x.

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Nozaki, Hiroaki, Masatoyo Nishizawa et 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, n^o 8 (2011) : 2207–13. http://dx.doi.org/10.2169/naika.100.2207.

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Ito, Shinji, Masaki Takao, Toshio Fukutake, Hiroyuki Hatsuta, Sayaka Funabe, Nobuo Ito, Yutaka Shimoe et al. « Histopathologic Analysis of Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL) : A Report of a New Genetically Confirmed Case and Comparison to 2 Previous Cases ». Journal of Neuropathology & ; Experimental Neurology 75, n^o 11 (15 septembre 2016) : 1020–30. http://dx.doi.org/10.1093/jnen/nlw078.

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Chen, Yan, Zhiyi He, Su Meng, Lei Li, Hua Yang et Xiaotang Zhang. « A novel mutation of the high-temperature requirement A serine peptidase 1 (HTRA1) gene in a Chinese family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) ». Journal of International Medical Research 41, n^o 5 (20 août 2013) : 1445–55. http://dx.doi.org/10.1177/0300060513480926.

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Tordiffe, Adrian Stephen Wolferstan, George Frederick van der Watt et Fred Reyers. « CYSTINE UROLITHIASIS IN A CARACAL (CARACAL CARACAL) ». Journal of Zoo and Wildlife Medicine 43, n^o 3 (20 septembre 2012) : 649–51. http://dx.doi.org/10.1638/2011-0236r1.1.

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