Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome mutations increase susceptibility to spreading depression

Annals of Neurology

Volumn 69, Issue 2, 2011, Pages 413-418

  Eikermann Haerter, Katharina ^a   Yuzawa, Izumi ^a   Dilekoz, Ergin ^a,d   Joutel, Anne ^b,c   Moskowitz, Michael A ^a   Ayata, Cenk ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b INSERM   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

NOTCH3 RECEPTOR;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CADASIL; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; LOSS OF FUNCTION MUTATION; MALE; MIGRAINE WITH AURA; MOUSE; MUTATIONAL ANALYSIS; NEOMORPHIC MUTATION; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SPREADING CORTICAL DEPRESSION;

ANALYSIS OF VARIANCE; ANIMALS; CADASIL; CORTICAL SPREADING DEPRESSION; DISEASE MODELS, ANIMAL; GENETIC PREDISPOSITION TO DISEASE; MICE; MICE, TRANSGENIC; MIGRAINE WITH AURA; MUTATION; RECEPTORS, NOTCH;

EID: 79952490984     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.22281     Document Type: Article

References (25)

1. Chabriat H, Joutel A, Dichgans M, et al. Cadasil. Lancet Neurol 2009; 8: 643-653.
2. Chabriat H, Vahedi K, Iba-Zizen MT, et al. Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet 1995; 346: 934-939.
3. Vahedi K, Chabriat H, Levy C, et al. Migraine with aura and brain magnetic resonance imaging abnormalities in patients with CADASIL. Arch Neurol 2004; 61: 1237-1240. (Pubitemid 39062677)
4. Feuerhake F, Volk B, Ostertag CB, et al. Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL. Acta Neuropathol 2002; 103: 188-192. (Pubitemid 36067498)
5. Schon F, Martin RJ, Prevett M, et al. " CADASIL coma": an underdiagnosed acute encephalopathy. J Neurol Neurosurg Psychiatry 2003; 74: 249-252. (Pubitemid 36160690)
6. Utku U, Celik Y, Uyguner O, et al. CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor. Eur J Neurol 2002; 9: 23-28.
7. Monet-Lepretre M, Bardot B, Lemaire B, et al. Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain. Brain 2009; 132: 1601-1612.
8. Eikermann-Haerter K, Dilekoz E, Kudo C, et al. Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1. J Clin Invest 2009; 119: 99-109.
9. Ruchoux MM, Domenga V, Brulin P, et al. Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Am J Pathol 2003; 162: 329-342. (Pubitemid 36042015)
10. Arboleda-Velasquez JF, Zhou Z, Shin HK, et al. Linking Notch signaling to ischemic stroke. Proc Natl Acad Sci U S A 2008; 105: 4856-4861. (Pubitemid 351753836)
11. Arboleda-Velasquez JF, Lopera F, Lopez E, et al. C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. Neurology 2002; 59: 277-279. (Pubitemid 34779191)
12. Shibata M, Ohtani R, Ihara M, Tomimoto H,. White matter lesions and glial activation in a novel mouse model of chronic cerebral hypoperfusion. Stroke 2004; 35: 2598-2603. (Pubitemid 39458424)
13. Ayata C, Dunn AK, Gursoy OY, et al. Laser speckle flowmetry for the study of cerebrovascular physiology in normal and ischemic mouse cortex. J Cereb Blood Flow Metab 2004; 24: 744-755. (Pubitemid 38880219)
14. Joutel A, Monet-Lepretre M, Gosele C, et al. Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease. J Clin Invest; 120: 433-445.
15. Chabriat H, Pappata S, Ostergaard L, et al. Cerebral hemodynamics in CADASIL before and after acetazolamide challenge assessed with MRI bolus tracking. Stroke 2000; 31: 1904-1912. (Pubitemid 30620471)
16. Sukhotinsky I, Yaseen MA, Sakadzic S, et al. Perfusion pressure-dependent recovery of cortical spreading depression is independent of tissue oxygenation over a wide physiologic range. J Cereb Blood Flow Metab 2010; 30: 1168-1177.
17. Dichgans M, Mayer M, Uttner I, et al. The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol 1998; 44: 731-739. (Pubitemid 28516043)
18. Monet M, Domenga V, Lemaire B, et al. The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo. Hum Mol Genet. 2007.
19. Lacombe P, Oligo C, Domenga V, et al. Impaired cerebral vasoreactivity in a transgenic mouse model of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy arteriopathy. Stroke 2005; 36: 1053-1058. (Pubitemid 40629302)
20. Dubroca C, Lacombe P, Domenga V, et al. Impaired vascular mechanotransduction in a transgenic mouse model of CADASIL arteriopathy. Stroke 2005; 36: 113-117. (Pubitemid 40054185)
21. Pfefferkorn T, von Stuckrad-Barre S, Herzog J, et al. Reduced cerebrovascular CO(2) reactivity in CADASIL: a transcranial Doppler sonography study. Stroke 2001; 32: 17-21. (Pubitemid 32063818)
22. 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: 2730-2735. (Pubitemid 39507766)
23. Richards A, van den Maagdenberg AM, Jen JC, et al. C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet 2007; 39: 1068-1070. (Pubitemid 47340644)
24. Dalkara T, Nozari A, Moskowitz MA,. Migraine aura pathophysiology: the role of blood vessels and microembolisation. Lancet Neurol 2010; 9: 309-317.
25. Ferrari M,. In:, Silberstein SD, Lipton RB, Dodick DW, eds. Wolff's headache and other head pain. 8th ed. Oxford, UK: Oxford University Press, 2008: 133-149.