Articles scientifiques

Principaux articles publiés en lien avec la maladie de Cadasil

Depuis la découverte de la maladie, de nombreux articles ont été publiés dans des revues internationales sur le CADASIL,
concernant la recherche fondamentale et la recherche clinique, mais aussi l’épidémiologie, la sociologie, etc..
Il est impossible de tous les lister ici.

Certains articles sont en libre accès, mais pour d’autres, l’accès n’est gratuit que pour le résumé ou abstract, l’article entier étant payant.

1 – Articles généralistes relatifs aux connaissances sur la maladie

Essentiellement en français

Elisabeth Tournier-Lasserve, Anne Joutel, Judith Melki, Jean Weissenbach, G. Mark Lathrop, Hugues Chabriat et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nature Genetics, volume 3, pages 256–259 (1993). https://www.nature.com/articles/ng0393-256#citeas
E. HBruls, G. Moonen, B. Sadzot. Le CADASIL : une artériolopathie cérébrale sévère non exceptionnelle. Rev Med Liege, 2007; 62 : 1 : 36-43. https://rmlg.uliege.be/download/1516/821/E.-Bruls_2007_1_le-cadasil-une-arteriolopathie-cerebrale-severe_0.pdf
Hugues Chabriat, Anne Joutel, Martin Dichgans, Elizabeth Tournier-Lasserve, Marie-Germaine Bousser. Cadasil. Lancet Neurol. 8, 643–653 (2009). https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(09)70127-9/abstract
H. Chabriat, M.-G. Bousser. Cadasil. EMC (Elsevier Masson SAS, Paris), Neurologie, 17-046-B-12 – doi : 10.1016/S0246-0378(16)79762-4, 2016. https://www.em-consulte.com/article/1095384/cadasil

2 – Synthèse des articles les plus récents et les plus représentatifs

Liste établie en juillet 2025

La grande majorité des articles est rédigée en langue anglaise. Nous présentons cependant quelques articles généralistes en français.

Ces articles, publiés dans des revues internationales, ont été identifiés dans le cadre d’un travail mené par le centre de référence des maladies vasculaires rares du cerveau et de l’œil (CERVCO).

Ce travail a servi de base à l’élaboration du PNDS CADASIL. Le PNDS (Protocole National de Diagnostic et de Soins) est téléchargeable sur le site du centre de référence : PNDS

Les articles sont publiés selon 3 axes : manifestations cliniques, diagnostic génétique, perspectives thérapeutiques et critères d’évaluation.

Thème : Manifestations cliniques

Sofia Kaisaridi, Dominique Herve, Aude Jabouley, Sonia Reyes, Carla Machado, Stéphanie Guey, et al. Determining Clinical Disease Progression in Symptomatic Patients With CADASIL. Neurology. 2025 Jan 14;104(1): e210193. https://www.neurology.org/doi/10.1212/WNL.0000000000210193
Charlotte Dupé, Stéphanie Guey, Lucie Biard, Sokhna Dieng, Jessica Lebenberg, Lina Grosset et al. Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors. J Cereb Blood Flow Metab. 2023 Jan;43(1):153-166. https://journals.sagepub.com/doi/full/10.1177/0271678X221126280
Ruiting Zhang, Elisa Ouin, Lina Grosset, Karine Ighilkrim, Jessica Lebenberg, Stéphanie Guey et al. Elderly CADASIL patients with intact neurological status. J Stroke. 2022 Sep;24(3):352-362. https://www.j-stroke.org/m/journal/view.php?doi=10.5853/jos.2022.01578
Bernard P H Cho, Amy A Jolly, Stefania Nannoni, Daniel Tozer, Steven Bell, Hugh S Markus. Association of NOTCH3 Variant Position with Stroke Onset and Other Clinical Features Among Patients With CADASIL. Neurology. 2022 Aug 1;99(5):e430-e439. https://www.neurology.org/doi/10.1212/WNL.0000000000200744
Ling Y, et al. Clinical correlates of longitudinal MRI changes in CADASIL. J Cereb Blood Flow Metab. 2019 ; 39: 11299-1305. https://journals.sagepub.com/doi/full/10.1177/0271678X18757875
Jianjun Wang, Jinfang Li, Fanxin Kong, Hanqing Lv, Zhouke Guo. Bipolar II disorder as the initial presentation of CADASIL: an underdiagnosed manifestation. Neuropsychiatr Dis Treat. 2017 Aug 14:13:2175-2179. https://pmc.ncbi.nlm.nih.gov/articles/PMC5565239/
Donnini I, Rinnoci V, Nannucci S, Valenti R, Pescini F, Mariani G et al. Pregnancy in CADASIL. Acta Neurol Scand. 2017 Dec;136(6):668-671. https://onlinelibrary.wiley.com/doi/10.1111/ane.12784

Thème : Diagnostic génétique

Wollenweber FA, Hanecker P, Bayer-Karpinska A, Malik R, Bäzner H, Moreton F, Muir KW et al. Cysteine-sparing CADASIL mutations in NOTCH3 show proaggregatory properties in vitro. Stroke. 2015 Mar;46(3):786-92. https://www.ahajournals.org/doi/10.1161/STROKEAHA.114.007472?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
Julie W Rutten, Hans G Dauwerse, Dorien J M Peters, Andrew Goldfarb, Hanka. Venselaar, Christof Haffner et al. Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept. Brain 2016 Apr;139(Pt 4):1123-35. https://academic.oup.com/brain/article/139/4/1123/2464303?login=false
Julie W Rutten, Hans G Dauwerse, Gido Gravesteijn, Martine J van Belzen, Jeroen. van der Grond, James M Polke et al. Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL. Ann Clin Transl Neurol. 2016 Sep 28;3(11):844-853. https://pmc.ncbi.nlm.nih.gov/articles/PMC5099530/
Dunn PJ, Maksemous N, Smith RA, Sutherland HG, Haupt LM, Griffiths LR. Investigating diagnostic sequencing techniques for CADASIL diagnosis. Hum Genomics. 2020 Jan 8;14(1):2. https://pmc.ncbi.nlm.nih.gov/articles/PMC6950909/
Gido Gravesteijn, Johannes G Dauwerse, Maurice Overzier, Gwendolyn Brouwer, Ingrid Hegeman, Aat A Mulder et al. Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients. Hum Mol Genet. 2020 Jul 21;29(11):1853- 1863. doi: 10.1093/hmg/ddz285. https://pmc.ncbi.nlm.nih.gov/articles/PMC7372551/
Julie W Rutten, Remco J Hack, Marco Duering, Gido Gravesteijn, Johannes G Dauwerse, Maurice Overzier et al. Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance. Neurology.2020 Sep 29;95(13): e1835- e1843. doi: 10.1212/WNL.0000000000010525. https://pmc.ncbi.nlm.nih.gov/articles/PMC7682826/
Ji-You Min, Seo-Jin Park, Eun-Joo Kang, Seung-Yong Hwang, Sung-Hee Han. Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study. Neurogenetics. 2022 Jan;23(1):45-58. doi: 10.1007/s10048-021-00674-1. https://link.springer.com/article/10.1007/s10048-021-00674-1
Remco J Hack, Minne N Cerfontaine, Gido Gravesteijn, Stephan Tap, Anne Hafkemeijer, Jeroen van der Grond et al. Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes. Stroke. 2022 Oct;53(10):3133-3144. doi: 10.1161/STROKEAHA.122.039325. https://pmc.ncbi.nlm.nih.gov/articles/PMC9508953/
Charlotte Dupé, Stéphanie Guey, Lucie Biard, Sokhna Dieng, Jessica Lebenberg, Lina Grosset et al. Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors. J Cereb Blood Flow Metab. 2023 Jan;43(1):153-166. doi: 10.1177/0271678X221126280. https://pmc.ncbi.nlm.nih.gov/articles/PMC9875352/
Nicolas Dupré, Florian Gueniot, Valérie Domenga-Denier, Virginie Dubosclard, Christelle Nilles, David Hill-Eubanks et al. Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL. J Clin Invest. 2024 Feb 22;134(8): e175789. doi: 10.1172/JCI175789. https://pmc.ncbi.nlm.nih.gov/articles/PMC11014667/
Gido Gravesteijn, Julie W Rutten, Minne N Cerfontaine, Remco J Hack, Yi-Chu Liao, Amy A Jolly, et al. Disease Severity Staging System for NOTCH3-Associated Small Vessel Disease, Including CADASIL. JAMA Neurol. 2025 Jan 1;82(1):49-60. https://jamanetwork.com/journals/jamaneurology/fullarticle/2827600

Thème : Perspectives thérapeutiques et critères d’évaluation

Fangwei Hu, Weijie Xie, Mengting Fan, Yuanrong Wang, Shuyan Xu, Wenxin Qiu, et al. Intracerebral Hemorrhage in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. Eur J Neurol. 2025; 32:e70100. https://pmc.ncbi.nlm.nih.gov/articles/PMC11894821/pdf/ENE-32-e70100.pdf
Madeleine Akrich, Vololona Rabeharisoa, Florence Paterson, Hugues Chabriat. Genetic diagnosis of individuals at risk of CADASIL: prospect for future therapeutic development. J Neurol. 2024 Oct;271(10):6912-6922. doi: 10.1007/s00415-024-12640-6. https://pmc.ncbi.nlm.nih.gov/articles/PMC11447124/pdf/415_2024_Article_12640.pdf
Chih-Hao Chen, Satoshi Saito, Yi-Chung Lee, Joong-Goo Kim, Yu-Wen Cheng, Yi-Chu Liao, Jay Chol Choi, Masafumi Ihara, Sung-Chun Tang. Safety and Effectiveness of Intravenous Thrombolysis in Patients With CADASIL: A Multicenter Study. Stroke. 2024 Dec;55(12): e321-e322. doi: 10.1161/STROKEAHA.124.048953. https://www.ahajournals.org/doi/epub/10.1161/STROKEAHA.124.048515
Cécile Di Folco, Aude Jabouley, Sonia Reyes, Carla Machado 2, Stéphanie Guey, Dominique Hervé, Fanny Fernandes, Joseph Agossa, Hugues Chabriat, Sophie Tezenas du Montcel. CADA-PRO: A Patient Questionnaire Measuring Key Cognitive, Motor, Emotional, and Behavioral Outcomes in CADASIL. Stroke. 2024 Oct;55(10):2439-2448. doi10.1161/STROKEAHA.124.047692. https://www.ahajournals.org/doi/epub/10.1161/STROKEAHA.124.047692
Sandrine Brice, Sonia Reyes, Aude Jabouley, Carla Machado, Christina Rogan, et al. Trajectory Pattern of Cognitive Decline in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. Neurology. 2022;99:e1019-e1031. doi:10.1212/WNL.0000000000200805. https://pmc.ncbi.nlm.nih.gov/articles/PMC9519251/pdf/WNL-2022-200783.pdf