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Chapter 5.2 - Genetic Small-Vessel Diseases

from 5 - Hereditary and Genetic Causes of Stroke

Published online by Cambridge University Press:  06 October 2022

Anita Arsovska
Edited by
Derya Uluduz
Anita Arsovska
Affiliation:
University of Ss Cyril and Methodius
Derya Uluduz
Affiliation:
Istanbul Üniversitesi
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Summary

Brain infarction due to cerebral small vessel disease (SVD) accounts for up to 25% of all ischemic strokes. CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) and CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy) are among the monogenic hereditary cerebral SVDs. Herein, we reported a case of sporadic CADASIL-like disease and provided information about CADASIL and CARASIL, two of the most common of inheredited SVDs that are usually overlooked

Keywords

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy)strokemigraineepileptic seizurescognitive decline
Type
Chapter
Information
Rare Causes of Stroke
A Handbook
 , pp. 234 - 239
Publisher: Cambridge University Press
Print publication year: 2022

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References

Petty, GW, Brown, RD Jr, Whisnant, JP, et al. Ischemic stroke subtypes: a population-based study of incidence and risk factors. Stroke. 1999;30(12): 2513–2516.Google Scholar
Søndergaard, CB, Nielsen, JE, Hansen, CK, Christensen, H. Hereditary cerebral small vessel disease and stroke. Clin Neurol Neurosurg. 2017;155: 45–57.CrossRefGoogle ScholarPubMed
Dong, Y, Hassan, A, Zhang, Z, et al. Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis. Stroke. 2003;34(1): 203–205.CrossRefGoogle ScholarPubMed
Di Donato, I, Bianchi, S, De Stefano, N, et al. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects. BMC Med. 2017;15(1): 41.CrossRefGoogle Scholar
Dichgans, M, Ludwig, H, Müller-Höcker, J, et al. Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains. Eur J Hum Genet. 2000;8(4): 280–285.CrossRefGoogle ScholarPubMed
Joutel, A, Monet, M, Domenga, V, Riant, F, et al. Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway. Am J Hum Genet. 2004;74(2): 338–347.CrossRefGoogle ScholarPubMed
Tikka, S, Baumann, M, Siitonen, M, et al. CADASIL and CARASIL. Brain Pathol. 2014;24(5): 525–544.CrossRefGoogle ScholarPubMed
Opherk, C, Peters, N, Herzog, J, et al. Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain. 2004;127(Pt 11): 2533–2539.CrossRefGoogle ScholarPubMed
Rufa, A, De Stefano, N, Dotti, MT, et al. Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Arch Neurol. 2004;61(4): 577–580.CrossRefGoogle Scholar
Dichgans, M, Petersen, D. Angiographic complications in CADASIL. Lancet. 1997;349(9054): 776–777.CrossRefGoogle ScholarPubMed
Oluwole, OJ, Ibrahim, H, Garozzo, D, et al. Cerebral small vessel disease due to a unique heterozygous HTRA1 mutation in an African man. Neurol Genet. 2019;6(1): e382.CrossRefGoogle Scholar
Yu, Z, Cao, S, Wu, A, et al. Genetically confirmed CARASIL: Case report with novel HTRA1 mutation and literature review. World Neurosurg. 2020;143: 121–128.CrossRefGoogle ScholarPubMed
Nozaki, H, Nishizawa, M, Onodera, O. Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke. 2014;45(11): 3447–3453.Google Scholar
Fukutake, T. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): From discovery to gene identification. J Stroke Cerebrovasc Dis. 2011;20(2): 85–93.Google Scholar
Nozaki, H, Sekine, Y, Fukutake, T, et al. Characteristic features and progression of abnormalities on MRI for CARASIL. Neurology. 2015;85(5): 459–463.CrossRefGoogle ScholarPubMed

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