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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL)

MedGen UID:
199687
•Concept ID:
C0751587
•
Disease or Syndrome
Synonyms: CADASIL; CASIL; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
SNOMED CT: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (390936003)
 
Gene (location): NOTCH3 (19p13.12)
Related gene: HTRA1
 
Monarch Initiative: MONDO:0007432
OMIM®: 125310
OMIM® Phenotypic series: PS125310

Disease characteristics

Excerpted from the GeneReview: CADASIL
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is characterized by mid-adult onset of recurrent ischemic stroke, cognitive decline progressing to dementia, a history of migraine with aura, mood disturbance, apathy, and diffuse white matter lesions and subcortical infarcts on neuroimaging. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Remco J Hack  |  Julie Rutten  |  Saskia AJ Lesnik Oberstein   view full author information

Additional description

From OMIM
Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a progressive disorder of the small arterial vessels of the brain manifest by migraine, strokes, and white matter lesions, with resultant cognitive impairment in some patients (review by Kalimo et al., 1999). Genetic Heterogeneity of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy CADASIL2 (616779) is caused by mutation in the HTRA1 gene (602194) on chromosome 10q26.  http://www.omim.org/entry/125310

Professional guidelines

PubMed

Genotype and Phenotype Differences in CADASIL from an Asian Perspective.
Kim Y, Bae JS, Lee JY, Song HK, Lee JH, Lee M, Kim C, Lee SH
Int J Mol Sci 2022 Sep 29;23(19) doi: 10.3390/ijms231911506. PMID: 36232798Free PMC Article
Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology.
Mancuso M, Arnold M, Bersano A, Burlina A, Chabriat H, Debette S, Enzinger C, Federico A, Filla A, Finsterer J, Hunt D, Lesnik Oberstein S, Tournier-Lasserve E, Markus HS
Eur J Neurol 2020 Jun;27(6):909-927. Epub 2020 Mar 20 doi: 10.1111/ene.14183. PMID: 32196841
Genetic testing and counseling in the diagnosis and management of young-onset dementias.
Goldman JS
Psychiatr Clin North Am 2015 Jun;38(2):295-308. Epub 2015 Mar 18 doi: 10.1016/j.psc.2015.01.008. PMID: 25998117

Recent clinical studies

Etiology

Decreased water exchange rate across blood-brain barrier in hereditary cerebral small vessel disease.
Li Y, Ying Y, Yao T, Jia X, Liang H, Tang W, Jia X, Song H, Shao X, Wang DJJ, Wang C, Cheng X, Yang Q
Brain 2023 Jul 3;146(7):3079-3087. doi: 10.1093/brain/awac500. PMID: 36625892Free PMC Article
Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology.
Mancuso M, Arnold M, Bersano A, Burlina A, Chabriat H, Debette S, Enzinger C, Federico A, Filla A, Finsterer J, Hunt D, Lesnik Oberstein S, Tournier-Lasserve E, Markus HS
Eur J Neurol 2020 Jun;27(6):909-927. Epub 2020 Mar 20 doi: 10.1111/ene.14183. PMID: 32196841
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
CADASIL: new advances in basic science and clinical perspectives.
Ferrante EA, Cudrici CD, Boehm M
Curr Opin Hematol 2019 May;26(3):193-198. doi: 10.1097/MOH.0000000000000497. PMID: 30855338Free PMC Article
Migraine and stroke.
Zhang Y, Parikh A, Qian S
Stroke Vasc Neurol 2017 Sep;2(3):160-167. Epub 2017 May 29 doi: 10.1136/svn-2017-000077. PMID: 28989805Free PMC Article

Diagnosis

Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology.
Mancuso M, Arnold M, Bersano A, Burlina A, Chabriat H, Debette S, Enzinger C, Federico A, Filla A, Finsterer J, Hunt D, Lesnik Oberstein S, Tournier-Lasserve E, Markus HS
Eur J Neurol 2020 Jun;27(6):909-927. Epub 2020 Mar 20 doi: 10.1111/ene.14183. PMID: 32196841
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
CADASIL: new advances in basic science and clinical perspectives.
Ferrante EA, Cudrici CD, Boehm M
Curr Opin Hematol 2019 May;26(3):193-198. doi: 10.1097/MOH.0000000000000497. PMID: 30855338Free PMC Article
Migraine and stroke.
Zhang Y, Parikh A, Qian S
Stroke Vasc Neurol 2017 Sep;2(3):160-167. Epub 2017 May 29 doi: 10.1136/svn-2017-000077. PMID: 28989805Free PMC Article
White Matter Diseases with Radiologic-Pathologic Correlation.
Sarbu N, Shih RY, Jones RV, Horkayne-Szakaly I, Oleaga L, Smirniotopoulos JG
Radiographics 2016 Sep-Oct;36(5):1426-47. doi: 10.1148/rg.2016160031. PMID: 27618323

Therapy

Effect of blood pressure-lowering agents on microvascular function in people with small vessel diseases (TREAT-SVDs): a multicentre, open-label, randomised, crossover trial.
Kopczak A, Stringer MS, van den Brink H, Kerkhofs D, Blair GW, van Dinther M, Reyes CA, Garcia DJ, Onkenhout L, Wartolowska KA, Thrippleton MJ, Kampaite A, Duering M, Staals J, Lesnik-Oberstein S, Muir KW, Middeke M, Norrving B, Bousser MG, Mansmann U, Rothwell PM, Doubal FN, van Oostenbrugge R, Biessels GJ, Webb AJS, Wardlaw JM, Dichgans M; TREAT-SVDs collaborators
Lancet Neurol 2023 Nov;22(11):991-1004. doi: 10.1016/S1474-4422(23)00293-4. PMID: 37863608
Cholinesterase inhibitors for vascular dementia and other vascular cognitive impairments: a network meta-analysis.
Battle CE, Abdul-Rahim AH, Shenkin SD, Hewitt J, Quinn TJ
Cochrane Database Syst Rev 2021 Feb 22;2(2):CD013306. doi: 10.1002/14651858.CD013306.pub2. PMID: 33704781Free PMC Article
Intracerebral Hemorrhage in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Prevalence, Clinical and Neuroimaging Features and Risk Factors.
Liao YC, Hu YC, Chung CP, Wang YF, Guo YC, Tsai YS, Lee YC
Stroke 2021 Mar;52(3):985-993. Epub 2021 Feb 4 doi: 10.1161/STROKEAHA.120.030664. PMID: 33535780
Nucleic Acid Therapies for Ischemic Stroke.
Henninger N, Mayasi Y
Neurotherapeutics 2019 Apr;16(2):299-313. doi: 10.1007/s13311-019-00710-x. PMID: 30635869Free PMC Article
Cerebrovascular disease and dementia.
Knopman DS
Br J Radiol 2007 Dec;80 Spec No 2:S121-7. doi: 10.1259/bjr/75681080. PMID: 18445742

Prognosis

Decreased water exchange rate across blood-brain barrier in hereditary cerebral small vessel disease.
Li Y, Ying Y, Yao T, Jia X, Liang H, Tang W, Jia X, Song H, Shao X, Wang DJJ, Wang C, Cheng X, Yang Q
Brain 2023 Jul 3;146(7):3079-3087. doi: 10.1093/brain/awac500. PMID: 36625892Free PMC Article
Migraine and stroke.
Zhang Y, Parikh A, Qian S
Stroke Vasc Neurol 2017 Sep;2(3):160-167. Epub 2017 May 29 doi: 10.1136/svn-2017-000077. PMID: 28989805Free PMC Article
Pregnancy in CADASIL.
Donnini I, Rinnoci V, Nannucci S, Valenti R, Pescini F, Mariani G, Bianchi S, Dotti MT, Federico A, Inzitari D, Pantoni L
Acta Neurol Scand 2017 Dec;136(6):668-671. Epub 2017 Jun 12 doi: 10.1111/ane.12784. PMID: 28608406
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
Guidetti D, Casali B, Mazzei RL, Dotti MT
Clin Exp Hypertens 2006 Apr-May;28(3-4):271-7. doi: 10.1080/10641960600549223. PMID: 16833034
Cerebral microhemorrhage.
Viswanathan A, Chabriat H
Stroke 2006 Feb;37(2):550-5. Epub 2006 Jan 5 doi: 10.1161/01.STR.0000199847.96188.12. PMID: 16397165

Clinical prediction guides

Decreased water exchange rate across blood-brain barrier in hereditary cerebral small vessel disease.
Li Y, Ying Y, Yao T, Jia X, Liang H, Tang W, Jia X, Song H, Shao X, Wang DJJ, Wang C, Cheng X, Yang Q
Brain 2023 Jul 3;146(7):3079-3087. doi: 10.1093/brain/awac500. PMID: 36625892Free PMC Article
Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology.
Mancuso M, Arnold M, Bersano A, Burlina A, Chabriat H, Debette S, Enzinger C, Federico A, Filla A, Finsterer J, Hunt D, Lesnik Oberstein S, Tournier-Lasserve E, Markus HS
Eur J Neurol 2020 Jun;27(6):909-927. Epub 2020 Mar 20 doi: 10.1111/ene.14183. PMID: 32196841
CADASIL: new advances in basic science and clinical perspectives.
Ferrante EA, Cudrici CD, Boehm M
Curr Opin Hematol 2019 May;26(3):193-198. doi: 10.1097/MOH.0000000000000497. PMID: 30855338Free PMC Article
Cerebral microhemorrhage.
Viswanathan A, Chabriat H
Stroke 2006 Feb;37(2):550-5. Epub 2006 Jan 5 doi: 10.1161/01.STR.0000199847.96188.12. PMID: 16397165
Incipient CADASIL.
Lesnik Oberstein SA, van den Boom R, Middelkoop HA, Ferrari MD, Knaap YM, van Houwelingen HC, Breuning MH, van Buchem MA, Haan J
Arch Neurol 2003 May;60(5):707-12. doi: 10.1001/archneur.60.5.707. PMID: 12756134

Recent systematic reviews

Contribution of "Omic" Studies to the Understanding of Cadasil. A Systematic Review.
Muiño E, Fernández-Cadenas I, Arboix A
Int J Mol Sci 2021 Jul 8;22(14) doi: 10.3390/ijms22147357. PMID: 34298974Free PMC Article
Cholinesterase inhibitors for vascular dementia and other vascular cognitive impairments: a network meta-analysis.
Battle CE, Abdul-Rahim AH, Shenkin SD, Hewitt J, Quinn TJ
Cochrane Database Syst Rev 2021 Feb 22;2(2):CD013306. doi: 10.1002/14651858.CD013306.pub2. PMID: 33704781Free PMC Article
Intracerebral hemorrhage in CADASIL.
Palazzo P, Le Guyader G, Neau JP
Rev Neurol (Paris) 2021 Apr;177(4):422-430. Epub 2021 Jan 19 doi: 10.1016/j.neurol.2020.10.009. PMID: 33478738
Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL.
Muiño E, Gallego-Fabrega C, Cullell N, Carrera C, Torres N, Krupinski J, Roquer J, Montaner J, Fernández-Cadenas I
Int J Mol Sci 2017 Sep 13;18(9) doi: 10.3390/ijms18091964. PMID: 28902129Free PMC Article
l-arginine and l-NMMA for assessing cerebral endothelial dysfunction in ischaemic cerebrovascular disease: A systematic review.
Karlsson WK, Sørensen CG, Kruuse C
Clin Exp Pharmacol Physiol 2017 Jan;44(1):13-20. doi: 10.1111/1440-1681.12679. PMID: 27704594

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