Postępy Psychiatrii i Neurologii

2/2026 vol. 35
Opis przypadku

A novel missense variant Cys559Gly in NOTCH3 in CADASIL family and vascular lesions in patients with migraine

  1. Department of Extrapyramidal Diseases, Medical University of Lodz, Poland
  2. Polish Mother’s Memorial Hospital Research Institute, Lodz, Poland
  3. Neurology Department, University Clinical Hospital No. 2, Medical University of Lodz, Poland
  4. Rehabilitation Department, University Clinical Hospital No. 2, Medical University of Lodz, Poland
Adv Psychiatry Neurol 2026; 35 (2): 132-135
Data publikacji online: 2026/05/13
Plik artykułu
PPiN-00541-A_Novel.pdf
Confronting perimenopausal women’s knowledge of coronary heart disease with their health behaviours. Controversial role of hormone replacement therapy in the protection of coronary heart disease
  1. Kalaria RN, Viitanen M, Kalimo H, Dichgans M, Tabira T; CADASIL Group of Vas-Cog. The pathogenesis of CADASIL: an update. J Neurol Sci 2004; 226: 35-39.
  2. Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996; 383: 707-710.
  3. Wang T, Baron M, Trump D. An overview of Notch3 function in vascular smooth muscle cells. Prog Biophys Mol Biol 2008; 96: 499-509.
  4. Cooper DN, Ball EV, Krawczak M. The human gene mutation database. Nucleic Acids Res 1998; 26: 285-287.
  5. Stojanov D, Vojinovic S, Aracki-Trenkic A, Tasic A, Benedeto-Stojanov D, Ljubisavljevic S, Vujnovic S. Imaging characteristics of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Bosn J Basic Med Sci 2015; 15: 1-8.
  6. Desmond DW, Moroney JT, Lynch T, Chan S, Chin SS, Mohr JP. The natural history of CADASIL: a pooled analysis of previously published cases. Stroke 1999; 30: 1230-1233.
  7. Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG. Cadasil. Lancet Neurol 2009; 8: 643-653.
  8. Chabriat H, Joutel A, Tournier-Lasserve E, Bousser MG. CADASIL: yesterday, today, tomorrow. Eur J Neurol 2020; 27: 1588-1595.
  9. Rasmussen BK, Olesen J. Migraine with aura and migraine without aura: an epidemiological study. Cephalalgia 1992; 12: 221-228; discussion 186.
  10. Russell MB, Rasmussen BK, Fenger K, Olesen J. Migraine without aura and migraine with aura are distinct clinical entities: a study of four hundred and eighty-four male and female migraineurs from the general population. Cephalalgia 1996; 16: 239-245.
  11. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405-424.
  12. Lesnik Oberstein SA, van den Boom R, van Buchem MA, van Houwelingen HC, Bakker E, Vollebregt E, et al.; Dutch CADASIL Research Group. Cerebral microbleeds in CADASIL. Neurology 2001; 57: 1066-1070.
  13. Chen S, Ni W, Yin XZ, Liu HQ, Lu C, Zheng QJ, et al. Clinical features and mutation spectrum in Chinese patients with CADASIL: a multicenter retrospective study. CNS Neurosci Ther 2017; 23: 707-716.
  14. Headache Classification Committee of the International Headache Society (IHS). The International Classification of Headache Disorders, 3rd edition. Cephalalgia 2018; 38: 1-211.
  15. Chabriat H, Tournier-Lasserve E, Vahedi K, Leys D, Joutel A, Nibbio A, et al. Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locus. Neurology 1995; 45: 1086-1091.
  16. Vérin M, Rolland Y, Landgraf F, Chabriat H, Bompais B, Michel A, et al. New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature. J Neurol Neurosurg Psychiatry 1995; 59: 579-585.
  17. Guey S, Mawet J, Hervé D, Duering M, Godin O, Jouvent E, et al. Prevalence and characteristics of migraine in CADASIL. Cephalalgia 2016; 36: 1038-1047.
  18. Zhang Y, Li Y, He L. Correlation between migraine and cerebral small vessel disease: a case-control study. Eur J Pain 2024; 28: 551-564.
  19. Ahmed SR, Mohamed AAM, Salem HH, Helmy S, Moustafa RR, Borham SMF. Association of white matter hyperintensities with migraine phenotypes and response to treatment. Acta Neurol Belg 2023; 123: 1725-1733.
  20. Kruit MC, van Buchem MA, Launer LJ, Terwindt GM, Ferrari MD. Migraine is associated with an increased risk of deep white matter lesions, subclinical posterior circulation infarcts and brain iron accumulation: the population-based MRI CAMERA study. Cephalalgia 2010; 30: 129-136.
This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0). License allowing third parties to download and share its works but not commercially purposes or to create derivative works.
Udostępnij
without publication fees