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Agenesis of cerebral white matter

MedGen UID:
347986
Concept ID:
C1859969
Finding; Pathologic Function
Synonym: Cerebral white matter agenesis
 
HPO: HP:0200017
Monarch Initiative: MONDO:0008739
OMIM®: 202600

Definition

Congenital defect with failure of the development of the cerebral white matter. [from HPO]

Clinical features

From HPO

Term Hierarchy

Conditions with this feature

Professional guidelines

PubMed

Parasher A, Jhamb R
Postgrad Med J 2020 Oct;96(1140):623-628. Epub 2020 May 28 doi: 10.1136/postgradmedj-2020-137706. PMID: 32467104
Wozniak JR, Riley EP, Charness ME
Lancet Neurol 2019 Aug;18(8):760-770. Epub 2019 May 31 doi: 10.1016/S1474-4422(19)30150-4. PMID: 31160204Free PMC Article
O'Shea TM
Clin Obstet Gynecol 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. PMID: 18981805Free PMC Article

Recent clinical studies

Etiology

Patel Y, Shin J, Sliz E, Tang A, Mishra A, Xia R, Hofer E, Rajula HSR, Wang R, Beyer F, Horn K, Riedl M, Yu J, Völzke H, Bülow R, Völker U, Frenzel S, Wittfeld K, Van der Auwera S, Mosley TH, Bouteloup V, Lambert JC, Chêne G, Dufouil C, Tzourio C, Mangin JF, Gottesman RF, Fornage M, Schmidt R, Yang Q, Witte V, Scholz M, Loeffler M, Roshchupkin GV, Ikram MA, Grabe HJ, Seshadri S, Debette S, Paus T, Pausova Z
Nat Commun 2024 Nov 4;15(1):9517. doi: 10.1038/s41467-024-53689-1. PMID: 39496600Free PMC Article
Xie M, Cai J, Liu Y, Wei W, Zhao Z, Dai M, Wu Y, Huang Y, Tang Y, Xiao L, Zhang G, Li C, Guo W, Ma X, Deng W, Du X, Wang Q, Li T
Psychiatry Res 2023 May;323:115111. Epub 2023 Mar 3 doi: 10.1016/j.psychres.2023.115111. PMID: 36924585
Urquia-Osorio H, Pimentel-Silva LR, Rezende TJR, Almendares-Bonilla E, Yasuda CL, Concha L, Cendes F
Epilepsia 2022 Sep;63(9):2312-2324. Epub 2022 Jun 25 doi: 10.1111/epi.17333. PMID: 35707885
Chen T, Chen Z, Gong Q
Adv Exp Med Biol 2021;1305:35-55. doi: 10.1007/978-981-33-6044-0_3. PMID: 33834393
Sun J, Xu B, Zhang X, He Z, Liu Z, Liu R, Nan G
Front Public Health 2020;8:498056. Epub 2020 Nov 17 doi: 10.3389/fpubh.2020.498056. PMID: 33282807Free PMC Article

Diagnosis

Zahr NM, Pfefferbaum A
Transl Psychiatry 2024 Jun 1;14(1):233. doi: 10.1038/s41398-024-02953-5. PMID: 38824150Free PMC Article
Chen T, Chen Z, Gong Q
Adv Exp Med Biol 2021;1305:35-55. doi: 10.1007/978-981-33-6044-0_3. PMID: 33834393
Agut T, Alarcon A, Cabañas F, Bartocci M, Martinez-Biarge M, Horsch S; eurUS.brain group
Pediatr Res 2020 Mar;87(Suppl 1):37-49. doi: 10.1038/s41390-020-0781-1. PMID: 32218534Free PMC Article
Issa R, Barakat A, Salman R, Naffaa L
J Radiol Case Rep 2019 Mar;13(3):13-18. Epub 2019 Mar 31 doi: 10.3941/jrcr.v13i3.3456. PMID: 31565173Free PMC Article
Kalaria RN
Neuropharmacology 2018 May 15;134(Pt B):226-239. Epub 2017 Dec 19 doi: 10.1016/j.neuropharm.2017.12.030. PMID: 29273521

Therapy

Carreira Figueiredo I, Borgan F, Pasternak O, Turkheimer FE, Howes OD
Neuropsychopharmacology 2022 Jun;47(7):1413-1420. Epub 2022 Jan 15 doi: 10.1038/s41386-022-01272-x. PMID: 35034098Free PMC Article
Parasher A, Jhamb R
Postgrad Med J 2020 Oct;96(1140):623-628. Epub 2020 May 28 doi: 10.1136/postgradmedj-2020-137706. PMID: 32467104
Garg RK, Mahadevan A, Malhotra HS, Rizvi I, Kumar N, Uniyal R
Rev Med Virol 2019 Sep;29(5):e2058. Epub 2019 Jun 24 doi: 10.1002/rmv.2058. PMID: 31237061
Gujral S, Aizenstein H, Reynolds CF 3rd, Butters MA, Erickson KI
Gen Hosp Psychiatry 2017 Nov;49:2-10. doi: 10.1016/j.genhosppsych.2017.04.012. PMID: 29122145Free PMC Article
Khalifeh S, Yassin W, Kourtian S, Boustany RM
J Med Liban 2016 Aug;64(2):110-115. PMID: 30452150

Prognosis

Patel Y, Shin J, Sliz E, Tang A, Mishra A, Xia R, Hofer E, Rajula HSR, Wang R, Beyer F, Horn K, Riedl M, Yu J, Völzke H, Bülow R, Völker U, Frenzel S, Wittfeld K, Van der Auwera S, Mosley TH, Bouteloup V, Lambert JC, Chêne G, Dufouil C, Tzourio C, Mangin JF, Gottesman RF, Fornage M, Schmidt R, Yang Q, Witte V, Scholz M, Loeffler M, Roshchupkin GV, Ikram MA, Grabe HJ, Seshadri S, Debette S, Paus T, Pausova Z
Nat Commun 2024 Nov 4;15(1):9517. doi: 10.1038/s41467-024-53689-1. PMID: 39496600Free PMC Article
Zahr NM, Pfefferbaum A
Transl Psychiatry 2024 Jun 1;14(1):233. doi: 10.1038/s41398-024-02953-5. PMID: 38824150Free PMC Article
Parasher A, Jhamb R
Postgrad Med J 2020 Oct;96(1140):623-628. Epub 2020 May 28 doi: 10.1136/postgradmedj-2020-137706. PMID: 32467104
Agut T, Alarcon A, Cabañas F, Bartocci M, Martinez-Biarge M, Horsch S; eurUS.brain group
Pediatr Res 2020 Mar;87(Suppl 1):37-49. doi: 10.1038/s41390-020-0781-1. PMID: 32218534Free PMC Article
Kalaria RN
Neuropharmacology 2018 May 15;134(Pt B):226-239. Epub 2017 Dec 19 doi: 10.1016/j.neuropharm.2017.12.030. PMID: 29273521

Clinical prediction guides

Patel Y, Shin J, Sliz E, Tang A, Mishra A, Xia R, Hofer E, Rajula HSR, Wang R, Beyer F, Horn K, Riedl M, Yu J, Völzke H, Bülow R, Völker U, Frenzel S, Wittfeld K, Van der Auwera S, Mosley TH, Bouteloup V, Lambert JC, Chêne G, Dufouil C, Tzourio C, Mangin JF, Gottesman RF, Fornage M, Schmidt R, Yang Q, Witte V, Scholz M, Loeffler M, Roshchupkin GV, Ikram MA, Grabe HJ, Seshadri S, Debette S, Paus T, Pausova Z
Nat Commun 2024 Nov 4;15(1):9517. doi: 10.1038/s41467-024-53689-1. PMID: 39496600Free PMC Article
Xie M, Cai J, Liu Y, Wei W, Zhao Z, Dai M, Wu Y, Huang Y, Tang Y, Xiao L, Zhang G, Li C, Guo W, Ma X, Deng W, Du X, Wang Q, Li T
Psychiatry Res 2023 May;323:115111. Epub 2023 Mar 3 doi: 10.1016/j.psychres.2023.115111. PMID: 36924585
Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F
Neuropediatrics 2023 Jun;54(3):161-166. Epub 2023 Mar 3 doi: 10.1055/s-0043-1764214. PMID: 36868263
Agut T, Alarcon A, Cabañas F, Bartocci M, Martinez-Biarge M, Horsch S; eurUS.brain group
Pediatr Res 2020 Mar;87(Suppl 1):37-49. doi: 10.1038/s41390-020-0781-1. PMID: 32218534Free PMC Article
Kalaria RN
Neuropharmacology 2018 May 15;134(Pt B):226-239. Epub 2017 Dec 19 doi: 10.1016/j.neuropharm.2017.12.030. PMID: 29273521

Recent systematic reviews

Blackman G, Neri G, Al-Doori O, Teixeira-Dias M, Mazumder A, Pollak TA, Hird EJ, Koutsouleris N, Bell V, Kempton MJ, McGuire P
JAMA Psychiatry 2023 Oct 1;80(10):1047-1054. doi: 10.1001/jamapsychiatry.2023.2225. PMID: 37436735Free PMC Article
Chen Y, Wang Y, Song Z, Fan Y, Gao T, Tang X
Ageing Res Rev 2023 Jun;87:101911. Epub 2023 Mar 15 doi: 10.1016/j.arr.2023.101911. PMID: 36931328
Luttenbacher I, Phillips A, Kazemi R, Hadipour AL, Sanghvi I, Martinez J, Adamson MM
J Psychiatr Res 2022 Mar;147:324-348. Epub 2021 Dec 28 doi: 10.1016/j.jpsychires.2021.12.042. PMID: 35151030
Carreira Figueiredo I, Borgan F, Pasternak O, Turkheimer FE, Howes OD
Neuropsychopharmacology 2022 Jun;47(7):1413-1420. Epub 2022 Jan 15 doi: 10.1038/s41386-022-01272-x. PMID: 35034098Free PMC Article
Najjar S, Pearlman DM
Schizophr Res 2015 Jan;161(1):102-12. Epub 2014 Jun 16 doi: 10.1016/j.schres.2014.04.041. PMID: 24948485

Supplemental Content

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