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364 L ÆKNABL AÐIÐ 2024/110
Y F I R L I T S G R E I N
1. Mancuso M, Arnold M, Bersano A, et al. Monogenic cerebral small-vessel diseases:
diagnosis and therapy. Consensus recommendations of the European Academy of
Neurology. Euro J of Neurology 2020;27(6):909–27.
2. van Bogaert L. Encéphalopathie sous-corticale progressive (Binswanger) a evolution
rapide chez deux soeurs. Med Hellen 1955;24:961–72.
3. Sonninen V, Savontaus ML. Hereditary Multi-Infarct Dementia. Eur Neurol
1987;27(4):209–15.
4. Chabriat H, Joutel A, Dichgans M, et al. CADASIL. The Lancet Neurology 2009;8(7):643–
53.
5. Domenga V, Fardoux P, Lacombe P, et al. Notch3 is required for arterial identity and
maturation of vascular smooth muscle cells. Genes Dev 2004;18(22):2730–5.
6. Razvi SSM. The prevalence of cerebral autosomal dominant arteriopathy with
subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland. JNNP
2005;76(5):739–41.
7. Cho BPH, Nannoni S, Harshfield EL, et al. NOTCH3 variants are more common than
expected in the general population and associated with stroke and vascular dementia:
an analysis of 200 000 participants. J Neurol Neurosurg Psychiatry 2021;92(7):694–701.
8. Rutten JW, Hack RJ, Duering M, et al. Broad phenotype of cysteine-altering NOTCH3
variants in UK Biobank: CADASIL to nonpenetrance. Neurology 2020;95(13):e1835-43.
9. High FA, Zhang M, Proweller A, et al. An essential role for Notch in neural crest
during cardiovascular development and smooth muscle differentiation. J Clin Invest
2007;117(2):353–63.
10. Malka K, Liaw L. NOTCH3 as a modulator of vascular disease: a target in elastin defici-
ency and arterial pathologies. J Clin Invest 2022;132(5):e157007.
11. Monet-Leprêtre M, Haddad I, Baron-Menguy C, et al. Abnormal recruitment of
extracellular matrix proteins by excess Notch3ECD: a new pathomechanism in
CADASIL. Brain 2013;136(6):1830–45.
12. Cramer J, White ML. Cerebral Autosomal Dominant Arteriopathy. Treasure Island (FL):
StatPearls; 2024.
13. Dichgans M, Mayer M, Uttner I, et al. The phenotypic spectrum of CADASIL: Clinical
findings in 102 cases. Ann Neurol 1998;44(5):731–9.
14. Liem MK, Oberstein SAL, Van Der Grond J, et al. CADASIL and migraine: A narrative
review. Cephalalgia 2010;30(11):1284–9.
15. Guey S, Mawet J, Hervé D, et al. Prevalence and characteristics of migraine in
CADASIL. Cephalalgia 2016;36(11):1038–47.
16. Ling Y, De Guio F, Duering M, et al. Predictors and Clinical Impact of Incident
Lacunes in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and
Leukoencephalopathy. Stroke 2017;48(2):283–9.
17. Opherk C. Long-term prognosis and causes of death in CADASIL: a retrospective study
in 411 patients. Brain 2004;127(11):2533–9.
18. Rinnoci V, Nannucci S, Valenti R, et al. Cerebral hemorrhages in CADASIL: Report of
four cases and a brief review. J Neurol Sci 2013;330(1–2):45–51.
19. Anamnart C, Songsaeng D, Chanprasert S. A large number of cerebral microbleeds
in CADASIL patients presenting with recurrent seizures: a case report. BMC Neurol
2019;19(1):106.
20. Jolly AA, Nannoni S, Edwards H, et al. Prevalence and Predictors of Vascular Cognitive
Impairment in Patients With CADASIL. Neurology 2022;99(5).
21. Amberla K, Wäljas M, Tuominen S, et al. Insidious Cognitive Decline in CADASIL.
Stroke 2004;35(7):1598–602.
22. Peters N, Opherk C, Danek A, et al. The Pattern of Cognitive Performance in CADASIL:
A Monogenic Condition Leading to Subcortical Ischemic Vascular Dementia. AJP
2005;162(11):2078–85.
23. Leyhe T, Wiendl H, Buchkremer G, et al. CADASIL: underdiagnosed in psychiatric pati-
ents? Acta Psychiatr Scand 2005;111(5):392–6.
24. Valenti R, Poggesi A, Pescini F, et al. Psychiatric disturbances in CADASIL: a brief revi-
ew. Acta Neurol Scand 2008;118(5):291–5.
25. Auer DP, Pütz B, Gössl C, et al. Differential Lesion Patterns in CADASIL and Sporadic
Subcortical Arteriosclerotic Encephalopathy: MR Imaging Study with Statistical
Parametric Group Comparison. Radiology 2001;218(2):443–51.
26. Viswanathan A, Chabriat H. Cerebral Microhemorrhage. Stroke 2006;37(2):550–5.
27. Smith BW, Henneberry J, Connolly T. Skin biopsy findings in CADASIL. Neurology
2002;59(6):961–961.
28. Meschia JF, Worrall BB, Elahi FM, et al. Management of Inherited CNS Small Vessel
Diseases: The CADASIL Example: A Scientific Statement From the American Heart
Association. Stroke 2023;54(10).
29. Adib-Samii P, Brice G, Martin RJ, et al. Clinical Spectrum of CADASIL and the Effect
of Cardiovascular Risk Factors on Phenotype: Study in 200 Consecutively Recruited
Individuals. Stroke 2010;41(4):630–4.
30. Pescini F, Torricelli S, Squitieri M, et al. Intravenous thrombolysis in CADASIL: report
of two cases and a systematic review. Neurol Sci 2023;44(2):491–8.
31. Glover PA, Goldstein ED, Badi MK, et al. Treatment of migraine in patients with
CADASIL: A systematic review and meta-analysis. Neur Clin Pract 2020;10(6):488–96.
32. Albanese M, Pescini F, Di Bonaventura C, et al. Long-Term Treatment with the
Calcitonin Gene-Related Peptide Receptor Antagonist Erenumab in CADASIL: Two
Case Reports. JCM 2024;13(7):1870.
33. Roine S, Pöyhönen M, Timonen S, et al. Neurologic symptoms are common during
gestation and puerperium in CADASIL. Neurology 2005;64(8):1441–3.
34. Hemelsoet D, Hemelsoet K, Devreese D. The neurological illness of Friedrich Nietzsche.
Acta Neurol Belg 2008;108(1):9–16.
35. Perogamvros L, Perrig S, Bogousslavsky J, et al. Friedrich Nietzsche and his Illness: A
Neurophilosophical Approach to Introspection. J Hist Neurosci 2013;22(2):174–82.
Heimildir
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
(CADASIL) is a hereditary small vessel disease of the brain characterized by progressive white matter
lesions, subcortical infarcts, and cognitive decline. This autosomal dominant disorder is caused by
mutations in the NOTCH3 gene located on chromosome 19, resulting in the accumulation of granular
osmiophilic material within the walls of small arteries and arterioles. Clinically, CADASIL typically
manifests in mid-adulthood with recurrent ischemic events, migraine with aura, mood disturbances,
and cognitive impairment. Neuroimaging plays a crucial role in the diagnosis of CADASIL, with
characteristic findings including white matter hyperintensities particularly in the anterior temporal
lobe and external capsule.
doi: 10.17992/lbl.2024.0708.801
Olafur Arni Sveinsson1,2
Enrico Bernardo Arkink1,3
Brynhildur Thors2
1University of Iceland, Faculty of Medicine,
2Department of Neurology, University Hospital
of Iceland, Reykjavik, Iceland, 3Department
of Radiology, University Hospital of Iceland,
Reykjavik, Iceland
Correspondence: Olafur Sveinsson,
olafursv@landspitali.is
Key words: CADASIL, small vessel disease,
cerebral infarction, NOTCH 3, migraine with aura.
The hereditary vessel disease CADASIL