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COL4A1 or COL4A2-related cerebral small vessel disease

MedGen UID:
1826071
Concept ID:
C5680103
Disease or Syndrome
Synonym: COL4A1 or COL4A2-related cerebral angiopathy
 
Orphanet: ORPHA477759

Professional guidelines

PubMed

Zhou L, Wang X, An J, Zhang Y, He M, Tang L
Exp Eye Res 2023 Jan;226:109307. Epub 2022 Nov 25 doi: 10.1016/j.exer.2022.109307. PMID: 36442680
Jeanne M, Gould DB
Matrix Biol 2017 Jan;57-58:29-44. Epub 2016 Oct 26 doi: 10.1016/j.matbio.2016.10.003. PMID: 27794444Free PMC Article
Sangha N, Gonzales NR
Neurotherapeutics 2011 Jul;8(3):374-87. doi: 10.1007/s13311-011-0055-z. PMID: 21732225Free PMC Article

Recent clinical studies

Etiology

Dupré N, Drieu A, Joutel A
J Clin Invest 2024 May 15;134(10) doi: 10.1172/JCI172841. PMID: 38747292Free PMC Article
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network
JAMA Neurol 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. PMID: 37486637Free PMC Article
Wu C, Wang M, Wang X, Li W, Li S, Chen B, Niu S, Tai H, Pan H, Zhang Z
Brain 2023 Jun 1;146(6):2364-2376. doi: 10.1093/brain/awac426. PMID: 36380532Free PMC Article
Bersano A, Kraemer M, Burlina A, Mancuso M, Finsterer J, Sacco S, Salvarani C, Caputi L, Chabriat H, Oberstein SL, Federico A, Lasserve ET, Hunt D, Dichgans M, Arnold M, Debette S, Markus HS
J Neurol 2021 Aug;268(8):2780-2807. Epub 2020 Apr 21 doi: 10.1007/s00415-020-09836-x. PMID: 32318851
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457

Diagnosis

Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network
JAMA Neurol 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. PMID: 37486637Free PMC Article
Wu C, Wang M, Wang X, Li W, Li S, Chen B, Niu S, Tai H, Pan H, Zhang Z
Brain 2023 Jun 1;146(6):2364-2376. doi: 10.1093/brain/awac426. PMID: 36380532Free PMC Article
Bersano A, Kraemer M, Burlina A, Mancuso M, Finsterer J, Sacco S, Salvarani C, Caputi L, Chabriat H, Oberstein SL, Federico A, Lasserve ET, Hunt D, Dichgans M, Arnold M, Debette S, Markus HS
J Neurol 2021 Aug;268(8):2780-2807. Epub 2020 Apr 21 doi: 10.1007/s00415-020-09836-x. PMID: 32318851
Søndergaard CB, Nielsen JE, Hansen CK, Christensen H
Clin Neurol Neurosurg 2017 Apr;155:45-57. Epub 2017 Feb 22 doi: 10.1016/j.clineuro.2017.02.015. PMID: 28254515
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457

Therapy

Peng X, Li Y, Liu N, Xia S, Li X, Lai Y, He L, Sang C, Dong J, Ma C
Circ Arrhythm Electrophysiol 2024 Oct;17(10):e013037. Epub 2024 Oct 2 doi: 10.1161/CIRCEP.124.013037. PMID: 39355913
Becker LL, Makridis KL, Abad-Perez AT, Thomale UW, Tietze A, Elger CE, Horn D, Kaindl AM
Epilepsia Open 2024 Apr;9(2):800-807. Epub 2024 Feb 17 doi: 10.1002/epi4.12916. PMID: 38366963Free PMC Article
Lago JC, Puzzi MB
PLoS One 2019;14(7):e0219165. Epub 2019 Jul 3 doi: 10.1371/journal.pone.0219165. PMID: 31269075Free PMC Article
Malik R, Rannikmäe K, Traylor M, Georgakis MK, Sargurupremraj M, Markus HS, Hopewell JC, Debette S, Sudlow CLM, Dichgans M; MEGASTROKE consortium and the International Stroke Genetics Consortium
Ann Neurol 2018 Dec;84(6):934-939. Epub 2018 Nov 30 doi: 10.1002/ana.25369. PMID: 30383316Free PMC Article
Sangha N, Gonzales NR
Neurotherapeutics 2011 Jul;8(3):374-87. doi: 10.1007/s13311-011-0055-z. PMID: 21732225Free PMC Article

Prognosis

Li A, Li Y, Li Y, Zhang M, Zhang H, Chen F
PeerJ 2023;11:e16243. Epub 2023 Oct 16 doi: 10.7717/peerj.16243. PMID: 37868053Free PMC Article
Wang L, Gao P, Li C, Liu Q, Yao Z, Li Y, Zhang X, Sun J, Simintiras C, Welborn M, McMillin K, Oprescu S, Kuang S, Fu X
J Cachexia Sarcopenia Muscle 2023 Oct;14(5):2152-2167. Epub 2023 Jul 12 doi: 10.1002/jcsm.13292. PMID: 37439037Free PMC Article
Boyce D, McGee S, Shank L, Pathak S, Gould D
Epilepsy Behav 2021 Dec;125:108365. Epub 2021 Nov 1 doi: 10.1016/j.yebeh.2021.108365. PMID: 34735964
Liu Y, Zhang J, Chen Y, Sohel H, Ke X, Chen J, Li YX
Aging (Albany NY) 2020 Jan 5;12(1):204-223. doi: 10.18632/aging.102610. PMID: 31905170Free PMC Article
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457

Clinical prediction guides

Wang L, Gao P, Li C, Liu Q, Yao Z, Li Y, Zhang X, Sun J, Simintiras C, Welborn M, McMillin K, Oprescu S, Kuang S, Fu X
J Cachexia Sarcopenia Muscle 2023 Oct;14(5):2152-2167. Epub 2023 Jul 12 doi: 10.1002/jcsm.13292. PMID: 37439037Free PMC Article
Mitamura Y, Reiger M, Kim J, Xiao Y, Zhakparov D, Tan G, Rückert B, Rinaldi AO, Baerenfaller K, Akdis M, Brüggen MC, Nadeau KC, Brunner PM, Roqueiro D, Traidl-Hoffmann C, Akdis CA
Allergy 2023 Aug;78(8):2215-2231. Epub 2023 Jun 14 doi: 10.1111/all.15781. PMID: 37312623
Ågren MS, Litman T, Eriksen JO, Schjerling P, Bzorek M, Gjerdrum LMR
Int J Mol Sci 2022 Dec 12;23(24) doi: 10.3390/ijms232415746. PMID: 36555389Free PMC Article
Borlot F, Regan BM, Bassett AS, Stavropoulos DJ, Andrade DM
JAMA Neurol 2017 Nov 1;74(11):1301-1311. doi: 10.1001/jamaneurol.2017.1775. PMID: 28846756Free PMC Article
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM
Genet Med 2015 Nov;17(11):843-53. Epub 2015 Feb 26 doi: 10.1038/gim.2014.210. PMID: 25719457

Recent systematic reviews

Whittaker E, Thrippleton S, Chong LYW, Collins VG, Ferguson AC, Henshall DE, Lancastle E, Wilkinson T, Wilson B, Wilson K, Sudlow C, Wardlaw J, Rannikmäe K
J Am Heart Assoc 2022 Jun 21;11(12):e025629. Epub 2022 Jun 14 doi: 10.1161/JAHA.121.025629. PMID: 35699195Free PMC Article
Kapoor P, Chowdhry A, Bagga DK, Bhargava D, Aishwarya S
Prog Orthod 2021 Oct 11;22(1):31. doi: 10.1186/s40510-021-00377-1. PMID: 34632546Free PMC Article
Rannikmäe K, Henshall DE, Thrippleton S, Ginj Kong Q, Chong M, Grami N, Kuan I, Wilkinson T, Wilson B, Wilson K, Paré G, Sudlow C
Stroke 2020 Oct;51(10):3007-3017. Epub 2020 Aug 26 doi: 10.1161/STROKEAHA.120.029517. PMID: 32842921
Søndergaard CB, Nielsen JE, Hansen CK, Christensen H
Clin Neurol Neurosurg 2017 Apr;155:45-57. Epub 2017 Feb 22 doi: 10.1016/j.clineuro.2017.02.015. PMID: 28254515
Lanfranconi S, Markus HS
Stroke 2010 Aug;41(8):e513-8. Epub 2010 Jun 17 doi: 10.1161/STROKEAHA.110.581918. PMID: 20558831

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