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Abnormal brainstem white matter morphology

MedGen UID:
868482
Concept ID:
C4022876
Anatomical Abnormality
Synonym: Abnormality of the brainstem white matter
 
HPO: HP:0012501

Definition

An anomaly of the white matter of brainstem. [from HPO]

Professional guidelines

PubMed

Tipton PW, Kenney-Jung D, Rush BK, Middlebrooks EH, Nascene D, Singh B, Holtan S, Ayala E, Broderick DF, Lund T, Wszolek ZK
Mov Disord 2021 Dec;36(12):2901-2909. Epub 2021 Jul 30 doi: 10.1002/mds.28734. PMID: 34329526
Tobin WO, Guo Y, Krecke KN, Parisi JE, Lucchinetti CF, Pittock SJ, Mandrekar J, Dubey D, Debruyne J, Keegan BM
Brain 2017 Sep 1;140(9):2415-2425. doi: 10.1093/brain/awx200. PMID: 29050399
Hegde AN, Mohan S, Lath N, Lim CC
Radiographics 2011 Jan-Feb;31(1):5-30. doi: 10.1148/rg.311105041. PMID: 21257930

Recent clinical studies

Etiology

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
Mader MM, Deuter D, Sauvigny T, Borchert P, Faizy TD, Bester M, Westphal M, Rosengarth K, Schmidt NO, Sedlacik J, Dührsen L
J Neurooncol 2022 Nov;160(2):311-320. Epub 2022 Nov 7 doi: 10.1007/s11060-022-04139-9. PMID: 36344852Free PMC Article
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
Tobin WO, Guo Y, Krecke KN, Parisi JE, Lucchinetti CF, Pittock SJ, Mandrekar J, Dubey D, Debruyne J, Keegan BM
Brain 2017 Sep 1;140(9):2415-2425. doi: 10.1093/brain/awx200. PMID: 29050399
Varghese M, Keshav N, Jacot-Descombes S, Warda T, Wicinski B, Dickstein DL, Harony-Nicolas H, De Rubeis S, Drapeau E, Buxbaum JD, Hof PR
Acta Neuropathol 2017 Oct;134(4):537-566. Epub 2017 Jun 5 doi: 10.1007/s00401-017-1736-4. PMID: 28584888Free PMC Article

Diagnosis

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
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
Shan F, Long Y, Qiu W
Front Immunol 2018;9:2802. Epub 2018 Dec 5 doi: 10.3389/fimmu.2018.02802. PMID: 30568655Free PMC Article
Tobin WO, Guo Y, Krecke KN, Parisi JE, Lucchinetti CF, Pittock SJ, Mandrekar J, Dubey D, Debruyne J, Keegan BM
Brain 2017 Sep 1;140(9):2415-2425. doi: 10.1093/brain/awx200. PMID: 29050399
Laothamatas J, Sungkarat W, Hemachudha T
Adv Virus Res 2011;79:309-27. doi: 10.1016/B978-0-12-387040-7.00014-7. PMID: 21601052

Therapy

Al-Saady M, Beerepoot S, Plug BC, Breur M, Galabova H, Pouwels PJW, Boelens JJ, Lindemans C, van Hasselt PM, Matzner U, Vanderver A, Bugiani M, van der Knaap MS, Wolf NI
Ann Clin Transl Neurol 2023 Jul;10(7):1146-1159. Epub 2023 May 22 doi: 10.1002/acn3.51796. PMID: 37212343Free PMC Article
Marinho LSR, Chiarantin GMD, Ikebara JM, Cardoso DS, de Lima-Vasconcellos TH, Higa GSV, Ferraz MSA, De Pasquale R, Takada SH, Papes F, Muotri AR, Kihara AH
Semin Cell Dev Biol 2023 Jul 30;144:67-76. Epub 2022 Sep 15 doi: 10.1016/j.semcdb.2022.09.007. PMID: 36115764
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
Tobin WO, Guo Y, Krecke KN, Parisi JE, Lucchinetti CF, Pittock SJ, Mandrekar J, Dubey D, Debruyne J, Keegan BM
Brain 2017 Sep 1;140(9):2415-2425. doi: 10.1093/brain/awx200. PMID: 29050399
Squeglia LM, Tapert SF, Sullivan EV, Jacobus J, Meloy MJ, Rohlfing T, Pfefferbaum A
Am J Psychiatry 2015 Jun;172(6):531-42. Epub 2015 May 18 doi: 10.1176/appi.ajp.2015.14101249. PMID: 25982660Free PMC Article

Prognosis

Al-Saady M, Beerepoot S, Plug BC, Breur M, Galabova H, Pouwels PJW, Boelens JJ, Lindemans C, van Hasselt PM, Matzner U, Vanderver A, Bugiani M, van der Knaap MS, Wolf NI
Ann Clin Transl Neurol 2023 Jul;10(7):1146-1159. Epub 2023 May 22 doi: 10.1002/acn3.51796. PMID: 37212343Free PMC Article
Abusrair A, AlHamoud I, Bohlega S
J Clin Neurophysiol 2022 Sep 1;39(6):504-509. Epub 2020 Dec 30 doi: 10.1097/WNP.0000000000000811. PMID: 33417382
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
Shan F, Long Y, Qiu W
Front Immunol 2018;9:2802. Epub 2018 Dec 5 doi: 10.3389/fimmu.2018.02802. PMID: 30568655Free PMC Article
Laothamatas J, Sungkarat W, Hemachudha T
Adv Virus Res 2011;79:309-27. doi: 10.1016/B978-0-12-387040-7.00014-7. PMID: 21601052

Clinical prediction guides

Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M
Brain 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. PMID: 37517035Free PMC Article
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
Shan F, Long Y, Qiu W
Front Immunol 2018;9:2802. Epub 2018 Dec 5 doi: 10.3389/fimmu.2018.02802. PMID: 30568655Free PMC Article
Mascalchi M, Vella A
Int Rev Neurobiol 2018;143:109-162. Epub 2018 Oct 29 doi: 10.1016/bs.irn.2018.09.011. PMID: 30473193
Tobin WO, Guo Y, Krecke KN, Parisi JE, Lucchinetti CF, Pittock SJ, Mandrekar J, Dubey D, Debruyne J, Keegan BM
Brain 2017 Sep 1;140(9):2415-2425. doi: 10.1093/brain/awx200. PMID: 29050399

Recent systematic reviews

Karimi A, Mohammadi S, Salehi MA, Dager SR
Brain Imaging Behav 2022 Dec;16(6):2809-2840. Epub 2022 Nov 3 doi: 10.1007/s11682-022-00733-7. PMID: 36327021
MacIver CL, Tax CMW, Jones DK, Peall KJ
Eur J Neurol 2022 Nov;29(11):3418-3448. Epub 2022 Jul 22 doi: 10.1111/ene.15483. PMID: 35785410Free PMC Article
Pietracupa S, Bologna M, Tommasin S, Berardelli A, Pantano P
Cerebellum 2022 Dec;21(6):1029-1051. Epub 2021 Oct 16 doi: 10.1007/s12311-021-01335-7. PMID: 34657271
Di Stadio A, Dipietro L, Ralli M, Meneghello F, Minni A, Greco A, Stabile MR, Bernitsas E
Eur Rev Med Pharmacol Sci 2018 Jul;22(14):4611-4624. doi: 10.26355/eurrev_201807_15520. PMID: 30058696
Kutlubaev MA, Duncan FH, Mead GE
Acta Neurol Scand 2012 Apr;125(4):219-27. Epub 2011 Nov 10 doi: 10.1111/j.1600-0404.2011.01618.x. PMID: 22070461

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