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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]
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

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
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
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

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
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
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
Ferrante EA, Cudrici CD, Boehm M
Curr Opin Hematol 2019 May;26(3):193-198. doi: 10.1097/MOH.0000000000000497. PMID: 30855338Free PMC Article
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

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
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
Ferrante EA, Cudrici CD, Boehm M
Curr Opin Hematol 2019 May;26(3):193-198. doi: 10.1097/MOH.0000000000000497. PMID: 30855338Free PMC Article
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
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

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
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
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
Henninger N, Mayasi Y
Neurotherapeutics 2019 Apr;16(2):299-313. doi: 10.1007/s13311-019-00710-x. PMID: 30635869Free PMC Article
Knopman DS
Br J Radiol 2007 Dec;80 Spec No 2:S121-7. doi: 10.1259/bjr/75681080. PMID: 18445742

Prognosis

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
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
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
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
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

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
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
Ferrante EA, Cudrici CD, Boehm M
Curr Opin Hematol 2019 May;26(3):193-198. doi: 10.1097/MOH.0000000000000497. PMID: 30855338Free PMC Article
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
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

Muiño E, Fernández-Cadenas I, Arboix A
Int J Mol Sci 2021 Jul 8;22(14) doi: 10.3390/ijms22147357. PMID: 34298974Free PMC Article
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
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
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
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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