CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTIONS AND LEUKOENCEPHALOPATHY. CADASIL SYNDROME (DESCRIPTION OF A CLINICAL CASE)
Main Article Content
Abstract
A clinical case of a 47-year-old patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is presented. It is known that the patient has a family history, her brother was diagnosed with CADASIL syndrome on the basis of autopsy, and the patient herself had CADASIL syndrome verified by genotyping in 2020. Over the past three years, recurrent strokes have been observed in the right and left SMA basins, with worsening clinical symptoms in the form of increased hemiparesis, the appearance of pseudobulbar and neurodynamic disorders. A special feature of the case is the absence of clinical symptoms outside of acute cerebral circulatory disorders, the symptoms of which are completely relieved.
Keywords
Article Details
Information about financing and conflict of interests
The authors declare that they have no apparent or potential conflicts of interest related to the publication of this article.
This work is licensed under a Creative Commons Attribution 4.0 License.
How to Cite
References
Hung LY, Ling TK, Lau NKC, Cheung WL, Chong YK, Sheng B, et al. Genetic diagnosis of CADASIL in three Hong Kong Chinese patients: A novel mutation within the intracellular domain of NOTCH3. J Clin Neurosci. 2018; 56: 95-100. doi: 10.1016/j.jocn.2018.06.050
Tikka S, Baumann M, Siitonen M, Pasanen P, Pöyhönen M, Myllykangas L, et al. CADASIL and CARASIL. Brain Pathol. 2014; 24(5): 525-544. doi: 10.1111/bpa.12181
Mishra DK, Kishore A, Niranjan V. CADASIL syndrome (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) presenting as psychosis. Gen Psychiatr. 2018; 31(3): e100017. doi: 10.1136/gpsych-2018-100017
Yemisci M, Eikermann-Haerter K. Aura and Stroke: relationship and what we have learnt from preclinical models. J Headache Pain. 2019; 20(1): 63. doi: 10.1186/s10194-019-1016-x
Reddy SPK, Vishnu VY, Goyal V, Singh MB, Arora S, Garg A, Srivastava MVP. CADASIL Syndrome & Stroke in young people. QJM. 2020; 113(2): 118-119. doi: 10.1093/qjmed/hcz243
Lee YC, Liu CS, Chang MH, Lin KP, Fuh JL, Lu YC, et al. Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese. J Neurol. 2009; 256(2): 249-255. doi: 10.1007/s00415-009-0091-3
Sergeev AV. Migraine «masks»: differential diagnosis of acute headache. S.S. Korsakov Journal of Neurology and Psychiatry. 2018; 118(1): 96-102. Russian (Сергеев А.В. «Маски» мигрени: вопросы дифференциального диагноза острой головной боли //Журнал неврологии и психиатрии им. С.С. Корсакова. 2018. Т. 118, № 1. С. 96-102.) doi: 10.17116/jnevro20181181196-102
Papakonstantinou E, Bacopoulou F, Brouzas D, Megalooikonomou V, D'Elia D, Bongcam-Rudloff E, Vlachakis D. NOTCH3 and CADASIL syndrome: a genetic and structural overview. EMBnet J. 2019: 24: e921. doi: 10.14806/ej.24.0.921
Kim Y, Choi EJ, Choi CG, Kim G, Choi JH, Yoo HW, Kim JS. Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation. Neurology. 2006; 66(10): 1511-1516. doi: 10.1212/01.wnl.0000216259.99811.50
Donnini I, Rinnoci V, Nannucci S, Valenti R, Pescini F, Mariani G, et al. Pregnancy in CADASIL. Acta Neurol Scand. 2017; 136(6): 668-671. doi: 10.1111/ane.12784
Sonninen V, Savontaus ML. Hereditary multi-infarct dementia. Eur Neurol. 1987; 27(4): 209-215. doi: 10.1159/000116158
Onodera O, Nozaki H, Fukutake T, Adam MP, Ardinger HH, Pagon RA, et al. HTRA1 Disorder. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. 2010 Apr 27 [updated 2019 Nov 7]
Henninger N, Mayasi Y. Nucleic Acid Therapies for Ischemic Stroke. Neurotherapeutics. 2019; 16(2): 299-313. doi: 10.1007/s13311-019-00710-x
Hara K. Molecular mechanism and therapeutic strategy for cerebral small vessel disease. Rinsho Shinkeigaku. 2010; 50(11): 852-854. doi: 10.5692/clinicalneurol.50.852
Di Donato I, Bianchi S, Gallus GN, Cerase A, Taglia I, Pescini F, et al. Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease. CNS Neurosci Ther. 2017; 23(9): 759-765. doi: 10.1111/cns.12722