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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-phenotype correlations and effect of mutation location in Japanese CADASIL patients.
Mukai M, Mizuta I, Watanabe-Hosomi A, Koizumi T, Matsuura J, Hamano A, Tomimoto H, Mizuno T
J Hum Genet 2020 Aug;65(8):637-646. Epub 2020 Apr 10 doi: 10.1038/s10038-020-0751-9. PMID: 32277177
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
The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations.
Liu X, Zuo Y, Sun W, Zhang W, Lv H, Huang Y, Xiao J, Yuan Y, Wang Z
J Neurol Sci 2015 Jul 15;354(1-2):63-9. Epub 2015 May 7 doi: 10.1016/j.jns.2015.04.047. PMID: 25982499

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
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
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

Diagnosis

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
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
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

Antiplatelet use and CADASIL: a retrospective observational analysis.
Muppa J, Yaghi S, Goldstein ED
Neurol Sci 2023 Aug;44(8):2831-2834. Epub 2023 Mar 25 doi: 10.1007/s10072-023-06773-1. PMID: 36966219
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
CADASIL from Bench to Bedside: Disease Models and Novel Therapeutic Approaches.
Manini A, Pantoni L
Mol Neurobiol 2021 Jun;58(6):2558-2573. Epub 2021 Jan 19 doi: 10.1007/s12035-021-02282-4. PMID: 33464533Free PMC Article
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
Inherited and Uncommon Causes of Stroke.
Majersik JJ
Continuum (Minneap Minn) 2017 Feb;23(1, Cerebrovascular Disease):211-237. doi: 10.1212/CON.0000000000000432. PMID: 28157751

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
Stroke, cerebrovascular diseases and vascular cognitive impairment in Africa.
Akinyemi RO, Owolabi MO, Ihara M, Damasceno A, Ogunniyi A, Dotchin C, Paddick SM, Ogeng'o J, Walker R, Kalaria RN
Brain Res Bull 2019 Feb;145:97-108. Epub 2018 May 25 doi: 10.1016/j.brainresbull.2018.05.018. PMID: 29807146Free 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
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

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
CADASIL Affects Multiple Aspects of Cerebral Small Vessel Function on 7T-MRI.
van den Brink H, Kopczak A, Arts T, Onkenhout L, Siero JCW, Zwanenburg JJM, Hein S, Hübner M, Gesierich B, Duering M, Stringer MS, Hendrikse J, Wardlaw JM, Joutel A, Dichgans M, Biessels GJ; SVDs@target group
Ann Neurol 2023 Jan;93(1):29-39. Epub 2022 Nov 1 doi: 10.1002/ana.26527. PMID: 36222455
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
Stroke, cerebrovascular diseases and vascular cognitive impairment in Africa.
Akinyemi RO, Owolabi MO, Ihara M, Damasceno A, Ogunniyi A, Dotchin C, Paddick SM, Ogeng'o J, Walker R, Kalaria RN
Brain Res Bull 2019 Feb;145:97-108. Epub 2018 May 25 doi: 10.1016/j.brainresbull.2018.05.018. PMID: 29807146Free PMC Article

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
Cholinesterase inhibitors for rarer dementias associated with neurological conditions.
Li Y, Hai S, Zhou Y, Dong BR
Cochrane Database Syst Rev 2015 Mar 3;2015(3):CD009444. doi: 10.1002/14651858.CD009444.pub3. PMID: 25734590Free PMC Article
Experimental models of vascular dementia and vascular cognitive impairment: a systematic review.
Jiwa NS, Garrard P, Hainsworth AH
J Neurochem 2010 Nov;115(4):814-28. Epub 2010 Oct 7 doi: 10.1111/j.1471-4159.2010.06958.x. PMID: 20731763

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