cadasil

Summary

Summary: A familial, cerebral arteriopathy mapped to chromosome 19q12, and characterized by the presence of granular deposits in small CEREBRAL ARTERIES producing ischemic STROKE; PSEUDOBULBAR PALSY; and multiple subcortical infarcts (CEREBRAL INFARCTION). CADASIL is an acronym for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. CADASIL differs from BINSWANGER DISEASE by the presence of MIGRAINE WITH AURA and usually by the lack of history of arterial HYPERTENSION. (From Bradley et al, Neurology in Clinical Practice, 2000, p1146)

Top Publications

  1. Mykkänen K, Savontaus M, Juvonen V, Sistonen P, Tuisku S, Tuominen S, et al. Detection of the founder effect in Finnish CADASIL families. Eur J Hum Genet. 2004;12:813-9 pubmed
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease characterized by brain infarcts, cognitive decline and dementia...
  2. Maclean A, Woods R, Alderson L, Salloway S, Correia S, Cortez S, et al. Spontaneous lobar haemorrhage in CADASIL. J Neurol Neurosurg Psychiatry. 2005;76:456-7 pubmed
  3. Szpak G, Lewandowska E, Wierzba Bobrowicz T, Bertrand E, Pasennik E, Mendel T, et al. Small cerebral vessel disease in familial amyloid and non-amyloid angiopathies: FAD-PS-1 (P117L) mutation and CADASIL. Immunohistochemical and ultrastructural studies. Folia Neuropathol. 2007;45:192-204 pubmed
    ..with cerebral amyloid angiopathy (CAA), were confirmed by genetic and neuropathological studies, and one case of CADASIL was ultrastructurally confirmed by the presence of vascular granular osmiophilic material...
  4. Fujiwara Y, Mizuno T, Okuyama C, Nagakane Y, Watanabe Hosomi A, Kondo M, et al. Simultaneous impairment of intracranial and peripheral artery vasoreactivity in CADASIL patients. Cerebrovasc Dis. 2012;33:128-34 pubmed publisher
    ..the pathogenesis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)...
  5. Coto E, Menendez M, Navarro R, Garcia Castro M, Alvarez V. A new de novo Notch3 mutation causing CADASIL. Eur J Neurol. 2006;13:628-31 pubmed
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is one of the most common hereditary forms of stroke, and migraine with aura, mood disorders, or dementia, are also frequently found in ..
  6. Benisty S, Hernandez K, Viswanathan A, Reyes S, Kurtz A, O Sullivan M, et al. Diagnostic criteria of vascular dementia in CADASIL. Stroke. 2008;39:838-44 pubmed publisher
    ..Application of these criteria in CADASIL, a genetic model of SIVD, may help to better assess their significance...
  7. Kim Y, Choi E, Choi C, Kim G, Choi J, Yoo H, et al. Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation. Neurology. 2006;66:1511-6 pubmed
    ..Korean patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and mutation carriers. The authors studied 40 members of nine unrelated Korean CADASIL families...
  8. Sacco S, Rasura M, Cao M, Bozzao A, Carolei A. CADASIL presenting as status migrainosus and persisting aura without infarction. J Headache Pain. 2009;10:51-3 pubmed publisher
    ..of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)...
  9. Sicurelli F, Dotti M, De Stefano N, Malandrini A, Mondelli M, Bianchi S, et al. Peripheral neuropathy in CADASIL. J Neurol. 2005;252:1206-9 pubmed
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a hereditary cerebral microangiopathy associated with mutations in the Notch 3 gene...

More Information

Publications62

  1. Dotti M, Federico A, Mazzei R, Bianchi S, Scali O, Conforti F, et al. The spectrum of Notch3 mutations in 28 Italian CADASIL families. J Neurol Neurosurg Psychiatry. 2005;76:736-8 pubmed
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a cause of hereditary cerebrovascular disease. It results from mutations in the Notch3 gene, a large gene with 33 exons...
  2. O SULLIVAN M, Barrick T, Morris R, Clark C, Markus H. Damage within a network of white matter regions underlies executive dysfunction in CADASIL. Neurology. 2005;65:1584-90 pubmed
    To identify the important sites of white matter disruption that underpin executive dysfunction in CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), a genetic model of pure subcortical ..
  3. Holtmannspotter M, Peters N, Opherk C, Martin D, Herzog J, Bruckmann H, et al. Diffusion magnetic resonance histograms as a surrogate marker and predictor of disease progression in CADASIL: a two-year follow-up study. Stroke. 2005;36:2559-65 pubmed
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations in the NOTCH3 gene...
  4. Razvi S, Davidson R, Bone I, Muir K. Is inadequate family history a barrier to diagnosis in CADASIL?. Acta Neurol Scand. 2005;112:323-6 pubmed
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) has typical clinical features that include stroke, migraine, mood disturbances and cognitive decline. However, misdiagnosis is common...
  5. Reyes S, Viswanathan A, Godin O, Dufouil C, Benisty S, Hernandez K, et al. Apathy: a major symptom in CADASIL. Neurology. 2009;72:905-10 pubmed publisher
    ..apathy is common in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), appears in association with cognitive impairment, global functional disability, and severe neuropsychiatric ..
  6. Opherk C, Duering M, Peters N, Karpinska A, Rosner S, Schneider E, et al. CADASIL mutations enhance spontaneous multimerization of NOTCH3. Hum Mol Genet. 2009;18:2761-7 pubmed publisher
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic cause of stroke and vascular dementia...
  7. Opherk C, Peters N, Herzog J, Luedtke R, Dichgans M. Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain. 2004;127:2533-9 pubmed
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary angiopathy caused by mutations in the NOTCH3 gene. The clinical course is highly variable...
  8. Sano Y, Shimizu F, Kawai M, Omoto M, Negoro K, Kurokawa T, et al. p.Arg332Cys mutation of NOTCH3 gene in two unrelated Japanese families with CADASIL. Intern Med. 2011;50:2833-8 pubmed
    ..The subject from family B showed recurrent ischemic attacks, followed by a large intracranial hemorrhage. This is the first report to describe the detailed phenotypes of patients with a rare p.Arg332Cys mutation in Japan. ..
  9. Low W, Santa Y, Takahashi K, Tabira T, Kalaria R. CADASIL-causing mutations do not alter Notch3 receptor processing and activation. Neuroreport. 2006;17:945-9 pubmed
    b>CADASIL is associated with mutations in the Notch3 gene but the causal mechanisms of the disorder remain unclear...
  10. Tang S, Lee M, Jeng J, Yip P. Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Neurol Sci. 2005;228:125-8 pubmed
    ..and genotype of cerebral autosomal dominant arteriopathy and subcortical infarcts and leukoencephalopathy (CADASIL) in Caucasians have been well characterized, but CADASIL is less recognized in Asian populations...
  11. Keverne J, Low W, Ziabreva I, Court J, Oakley A, Kalaria R. Cholinergic neuronal deficits in CADASIL. Stroke. 2007;38:188-91 pubmed
    ..are affected in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)...
  12. Rufa A, Dotti M, Franchi M, Stromillo M, Cevenini G, Bianchi S, et al. Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke. 2005;36:2554-8 pubmed
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic form of subcortical ischemic vascular dementia (SIVD)...
  13. Buffon F, Porcher R, Hernandez K, Kurtz A, Pointeau S, Vahedi K, et al. Cognitive profile in CADASIL. J Neurol Neurosurg Psychiatry. 2006;77:175-80 pubmed
    The spectrum of cognitive alterations associated with CADASIL, a model of pure vascular dementia, has not been thoroughly evaluated...
  14. Sacco S, Degan D, Carolei A. Diagnostic criteria for CADASIL in the International Classification of Headache Disorders (ICHD-II): are they appropriate?. J Headache Pain. 2010;11:181-6 pubmed publisher
    ..in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), to verify the appropriateness of the International Classification of Headache Disorders, second edition (ICHD-..
  15. Kotorii S, Goto H, Kondo T, Matsuo H, Takahashi K, Shibuya N. [Case of CADASIL showing spontaneous subcortical hemorrhage with a novel mutation of Notch3 gene]. Rinsho Shinkeigaku. 2006;46:644-8 pubmed
    ..patient's disease as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)...
  16. Monet M, Domenga V, Lemaire B, Souilhol C, Langa F, Babinet C, et al. The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo. Hum Mol Genet. 2007;16:982-92 pubmed
    Cerebral Autosomal Dominant Arteriopathy with Subcortical infarcts and Leukoencephalopathy (CADASIL) is the most prominent known cause of inherited stroke and vascular dementia in human adult...
  17. Kim Y, Kim J, Kim G, No Y, Yoo H. Two novel mutations of the NOTCH3 gene in Korean patients with CADASIL. Mutat Res. 2006;593:116-20 pubmed
    ..are responsible for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), an adult-onset hereditary angiopathy leading to ischemic episodes, vascular dementia and other neurologic ..
  18. Mandellos D, Limbitaki G, Papadimitriou A, Anastasopoulos D. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a Greek family. Neurol Sci. 2005;26:278-81 pubmed
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult-onset inherited disease, characterised by recurrent strokes, migraine and cognitive impairment...
  19. Huang L, Yang Q, Zhang L, Chen X, Huang Q, Wang H. Acetazolamide improves cerebral hemodynamics in CADASIL. J Neurol Sci. 2010;292:77-80 pubmed publisher
    ..Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disease caused by mutations in the NOTCH3 gene...
  20. Ishiko A, Shimizu A, Nagata E, Takahashi K, Tabira T, Suzuki N. Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL. Acta Neuropathol. 2006;112:333-9 pubmed
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited systemic vascular disorder characterized by recurrent subcortical ischemic strokes leading to vascular dementia...
  21. Adib Samii P, Brice G, Martin R, Markus H. Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals. Stroke. 2010;41:630-4 pubmed publisher
    Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an inherited arteriopathy with clinical features that include recurrent lacunar stroke, migraine, and cognitive impairment...
  22. Choi J, Song S, Lee J, Kang S, Kang J. Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C. J Stroke Cerebrovasc Dis. 2013;22:126-31 pubmed publisher
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder of the cerebral small blood vessels caused by mutations in the NOTCH3 gene...
  23. Ihalainen S, Soliymani R, Iivanainen E, Mykkänen K, Sainio A, Poyhonen M, et al. Proteome analysis of cultivated vascular smooth muscle cells from a CADASIL patient. Mol Med. 2007;13:305-14 pubmed
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a vascular dementing disease caused by mutations in the NOTCH3 gene, most which are missense mutations leading to an uneven number of ..
  24. Opherk C, Gonik M, Duering M, Malik R, Jouvent E, Herve D, et al. Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL. Stroke. 2014;45:968-72 pubmed publisher
    ..of WMH volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a monogenic small vessel disease...
  25. Miao Q, Paloneva T, Tuominen S, Poyhonen M, Tuisku S, Viitanen M, et al. Fibrosis and stenosis of the long penetrating cerebral arteries: the cause of the white matter pathology in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Brain Pathol. 2004;14:358-64 pubmed
    In cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) the vascular smooth muscle cells are destroyed and granular osmiophilic material is deposited followed by fibrosis of the arterial ..
  26. Fouillade C, Chabriat H, Riant F, Mine M, Arnoud M, Magy L, et al. Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain. Hum Mutat. 2008;29:452 pubmed publisher
    The most common causative diagnosis of hereditary small-vessel-disease of the brain, CADASIL, is due to highly stereotyped mutations in the NOTCH3 receptor...
  27. Harju M, Tuominen S, Summanen P, Viitanen M, Poyhonen M, Nikoskelainen E, et al. Scanning laser Doppler flowmetry shows reduced retinal capillary blood flow in CADASIL. Stroke. 2004;35:2449-52 pubmed
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a progressive systemic nonatherosclerotic angiopathy which causes ischemic strokes and vascular subcortical dementia...
  28. Sacco S, Carolei A. Migraine attributed to genetic disorder. Funct Neurol. 2007;22:117-8 pubmed
  29. Dichgans M. Cognition in CADASIL. Stroke. 2009;40:S45-7 pubmed publisher
    b>CADASIL is an early onset small vessel disease and genetic variant of pure subcortical ischemic vascular dementia (SIVD)...
  30. Pescini F, Bianchi S, Salvadori E, Poggesi A, Dotti M, Federico A, et al. A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient. J Neurol Sci. 2008;267:170-3 pubmed
    b>CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is an inherited small vessel disease causing migraine, early strokes, cognitive impairment and premature death...
  31. Roine S, Poyhonen M, Timonen S, Tuisku S, Marttila R, Sulkava R, et al. Neurologic symptoms are common during gestation and puerperium in CADASIL. Neurology. 2005;64:1441-3 pubmed
    ..12 of 25 mothers with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with the R133C NOTCH3 mutation had had neurologic symptoms in 17 of their 43 pregnancies, most commonly ..
  32. Peters N, Freilinger T, Opherk C, Pfefferkorn T, Dichgans M. Enhanced L-arginine-induced vasoreactivity suggests endothelial dysfunction in CADASIL. J Neurol. 2008;255:1203-8 pubmed publisher
    Mutations in the Notch3 gene are the cause of CADASIL, a hereditary small vessel disease leading to stroke and vascular dementia...
  33. Liem M, Oberstein S, van der Grond J, Ferrari M, Haan J. CADASIL and migraine: A narrative review. Cephalalgia. 2010;30:1284-9 pubmed
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene and is clinically characterized by recurrent stroke, cognitive decline, psychiatric ..
  34. Yamamoto Y, Craggs L, Watanabe A, Booth T, Attems J, Low R, et al. Brain microvascular accumulation and distribution of the NOTCH3 ectodomain and granular osmiophilic material in CADASIL. J Neuropathol Exp Neurol. 2013;72:416-31 pubmed publisher
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the most common form of familial brain arteriopathy, is associated with deposition of granular osmiophilic material (GOM)...
  35. Low W, Junna M, Börjesson Hanson A, Morris C, Moss T, Stevens D, et al. Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL. Brain. 2007;130:357-67 pubmed
    ..been suggested to be cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) but their genetic identities remain unknown...
  36. Alberts M, Tournier Lasserve E. Update on the genetics of stroke and cerebrovascular disease 2004. Stroke. 2005;36:179-81 pubmed
  37. Joutel A. Pathogenesis of CADASIL: transgenic and knock-out mice to probe function and dysfunction of the mutated gene, Notch3, in the cerebrovasculature. Bioessays. 2011;33:73-80 pubmed publisher
    ..Dominant mutations in NOTCH3 cause CADASIL, one of the most prevalent inherited cerebral SVDs...
  38. Cappelli A, Ragno M, Cacchiò G, Scarcella M, Staffolani P, Pianese L. High recurrence of the R1006C NOTCH3 mutation in central Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Neurosci Lett. 2009;462:176-8 pubmed publisher
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a heritable small-vessel disease caused by mutations in NOTCH3 gene and clinically characterized by recurrent ischemic strokes, ..
  39. Viswanathan A, Gray F, Bousser M, Baudrimont M, Chabriat H. Cortical neuronal apoptosis in CADASIL. Stroke. 2006;37:2690-5 pubmed
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations of the NOTCH3 gene and is a model of pure vascular dementia...
  40. Ragno M, Pianese L, Pinelli M, Silvestri S, Cacchiò G, Di Marzio F, et al. Shorter telomeres in patients with cerebral autosomal dominant arteriopathy and leukoencephalopathy (CADASIL). Neurogenetics. 2011;12:337-43 pubmed publisher
    b>CADASIL is a hereditary systemic vasculopathy which affects mainly small cerebral arteries and is caused by mutations in the Notch3 gene...
  41. Lee Y, Liu C, Chang M, Lin K, Fuh J, Lu Y, et al. Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese. J Neurol. 2009;256:249-55 pubmed publisher
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disorder caused by NOTCH3 mutations and characterized by recurrent subcortical infarctions, dementia and ..
  42. Kalaria R, Viitanen M, Kalimo H, Dichgans M, Tabira T. The pathogenesis of CADASIL: an update. J Neurol Sci. 2004;226:35-9 pubmed
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) appears to be the most common form of hereditary stroke disorder...
  43. Lee Y, Yang A, Liu H, Wong W, Lu Y, Chang M, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: two novel mutations in the NOTCH3 gene in Chinese. J Neurol Sci. 2006;246:111-5 pubmed
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disorder caused by NOTCH3 mutations, usually localized to exons 3 and 4, and characterized by recurrent subcortical ..
  44. Formichi P, Radi E, Battisti C, Di Maio G, Tarquini E, Leonini A, et al. Apoptosis in CADASIL: an in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients. J Cell Physiol. 2009;219:494-502 pubmed publisher
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease affecting vascular smooth muscle cells of nearly all tissues...
  45. Lundkvist J, Zhu S, Hansson E, Schweinhardt P, Miao Q, Beatus P, et al. Mice carrying a R142C Notch 3 knock-in mutation do not develop a CADASIL-like phenotype. Genesis. 2005;41:13-22 pubmed
    b>CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, MIM 125310) is a genetic vascular dementia disease that is linked to missense mutations, small in-frame deletions, and splice site ..
  46. Pantoni L, Sarti C, Pescini F, Bianchi S, Bartolini L, Nencini P, et al. Thrombophilic risk factors and unusual clinical features in three Italian CADASIL patients. Eur J Neurol. 2004;11:782-7 pubmed
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetically transmitted cerebrovascular disease...
  47. Yao M, Herve D, Allili N, Jouvent E, Duering M, Dichgans M, et al. NIHSS scores in ischemic small vessel disease: a study in CADASIL. Cerebrovasc Dis. 2012;34:419-23 pubmed publisher
    ..was to investigate the link between the NIHSS score and clinical severity in a large population of subjects with CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), a unique model to ..
  48. Chabriat H. Diffusion histograms in CADASIL. Stroke. 2005;36:2526 pubmed
  49. Chabriat H, Joutel A, Dichgans M, Tournier Lasserve E, Bousser M. Cadasil. Lancet Neurol. 2009;8:643-53 pubmed publisher
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is the most common heritable cause of stroke and vascular dementia in adults...
  50. Lacombe P, Oligo C, Domenga V, Tournier Lasserve E, Joutel A. Impaired cerebral vasoreactivity in a transgenic mouse model of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy arteriopathy. Stroke. 2005;36:1053-8 pubmed
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease causing stroke and dementia...
  51. Duering M, Csanadi E, Gesierich B, Jouvent E, Herve D, Seiler S, et al. Incident lacunes preferentially localize to the edge of white matter hyperintensities: insights into the pathophysiology of cerebral small vessel disease. Brain. 2013;136:2717-26 pubmed publisher
    ..patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a genetically defined small vessel disease with mutations in the NOTCH3 gene were followed with magnetic ..
  52. Annunen Rasila J, Finnila S, Mykkänen K, Moilanen J, Veijola J, Poyhonen M, et al. Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL. Neurogenetics. 2006;7:185-94 pubmed
    ..the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is clinically characterised by recurrent ischemic strokes, migraine with aura, psychiatric symptoms, ..
  53. Rinnoci V, Nannucci S, Valenti R, Donnini I, Bianchi S, Pescini F, et al. Cerebral hemorrhages in CADASIL: report of four cases and a brief review. J Neurol Sci. 2013;330:45-51 pubmed publisher
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebral small vessel disease, clinically characterized by migraine, recurrent transient ischemic attacks or strokes, ..