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Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy

MedGen UID:
946104
Concept ID:
CN263076
Disease or Syndrome
Synonyms: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBEL; encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy; PEBEL; PEBEL
 
Related genes: NAXE, NAXD
 
Monarch Initiative: MONDO:0014960
OMIM® Phenotypic series: PS617186

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Triplett JD, Kutlubaev MA, Kermode AG, Hardy T
Pract Neurol 2022 Jun;22(3):183-189. Epub 2022 Jan 19 doi: 10.1136/practneurol-2021-003194. PMID: 35046115
Steck AJ
J Neuroimmunol 2021 Dec 15;361:577725. Epub 2021 Sep 28 doi: 10.1016/j.jneuroim.2021.577725. PMID: 34610502
van der Knaap MS, Schiffmann R, Mochel F, Wolf NI
Lancet Neurol 2019 Oct;18(10):962-972. Epub 2019 Jul 12 doi: 10.1016/S1474-4422(19)30143-7. PMID: 31307818

Recent clinical studies

Etiology

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
van der Knaap MS, Schiffmann R, Mochel F, Wolf NI
Lancet Neurol 2019 Oct;18(10):962-972. Epub 2019 Jul 12 doi: 10.1016/S1474-4422(19)30143-7. PMID: 31307818
Lynch DS, Wade C, Paiva ARB, John N, Kinsella JA, Merwick Á, Ahmed RM, Warren JD, Mummery CJ, Schott JM, Fox NC, Houlden H, Adams ME, Davagnanam I, Murphy E, Chataway J
J Neurol Neurosurg Psychiatry 2019 May;90(5):543-554. Epub 2018 Nov 22 doi: 10.1136/jnnp-2018-319481. PMID: 30467211Free PMC Article
Köhler W, Curiel J, Vanderver A
Nat Rev Neurol 2018 Feb;14(2):94-105. Epub 2018 Jan 5 doi: 10.1038/nrneurol.2017.175. PMID: 29302065
Duncombe J, Kitamura A, Hase Y, Ihara M, Kalaria RN, Horsburgh K
Clin Sci (Lond) 2017 Oct 1;131(19):2451-2468. Epub 2017 Sep 28 doi: 10.1042/CS20160727. PMID: 28963120

Diagnosis

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
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
van der Knaap MS, Schiffmann R, Mochel F, Wolf NI
Lancet Neurol 2019 Oct;18(10):962-972. Epub 2019 Jul 12 doi: 10.1016/S1474-4422(19)30143-7. PMID: 31307818
Köhler W, Curiel J, Vanderver A
Nat Rev Neurol 2018 Feb;14(2):94-105. Epub 2018 Jan 5 doi: 10.1038/nrneurol.2017.175. PMID: 29302065
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

Manikandan M, Azariah B, Sharma R
J Cancer Res Ther 2023 Oct 1;19(7):2076-2078. Epub 2023 Jan 12 doi: 10.4103/jcrt.jcrt_2165_21. PMID: 38376324
Sertesen E, Öztaş A, Karaçin C, Yoloğlu Z
J Oncol Pharm Pract 2023 Sep;29(6):1516-1519. Epub 2023 May 25 doi: 10.1177/10781552231178680. PMID: 37231633
Rost NS, Meschia JF, Gottesman R, Wruck L, Helmer K, Greenberg SM; DISCOVERY Investigators
Stroke 2021 Aug;52(8):e499-e516. Epub 2021 May 27 doi: 10.1161/STROKEAHA.120.031611. PMID: 34039035Free PMC Article
Yoshimura K, Tokunaga S, Daga H, Inoue M
Intern Med 2019 Feb 15;58(4):621-622. Epub 2018 Oct 17 doi: 10.2169/internalmedicine.0961-18. PMID: 30333392Free PMC Article
Bhojwani D, Sabin ND, Pei D, Yang JJ, Khan RB, Panetta JC, Krull KR, Inaba H, Rubnitz JE, Metzger ML, Howard SC, Ribeiro RC, Cheng C, Reddick WE, Jeha S, Sandlund JT, Evans WE, Pui CH, Relling MV
J Clin Oncol 2014 Mar 20;32(9):949-59. Epub 2014 Feb 18 doi: 10.1200/JCO.2013.53.0808. PMID: 24550419Free PMC Article

Prognosis

van der Knaap MS, Schiffmann R, Mochel F, Wolf NI
Lancet Neurol 2019 Oct;18(10):962-972. Epub 2019 Jul 12 doi: 10.1016/S1474-4422(19)30143-7. PMID: 31307818
Zambrano MD, Miller EC
Curr Atheroscler Rep 2019 Jun 22;21(9):33. doi: 10.1007/s11883-019-0798-2. PMID: 31230137Free PMC Article
Köhler W, Curiel J, Vanderver A
Nat Rev Neurol 2018 Feb;14(2):94-105. Epub 2018 Jan 5 doi: 10.1038/nrneurol.2017.175. PMID: 29302065
Fischer M, Schmutzhard E
J Neurol 2017 Aug;264(8):1608-1616. Epub 2017 Jan 4 doi: 10.1007/s00415-016-8377-8. PMID: 28054130Free PMC Article
Love S
J Clin Pathol 2006 Nov;59(11):1151-9. doi: 10.1136/jcp.2005.031195. PMID: 17071802Free PMC Article

Clinical prediction guides

Li Y, Xu J, Xu Y, Li C, Wu Y, Liu Z
Ann Clin Transl Neurol 2023 Sep;10(9):1556-1568. Epub 2023 Jul 11 doi: 10.1002/acn3.51845. PMID: 37434390Free PMC Article
Iscan D, Tolay R, Bayram E, Demir T, Bicakci S
J Oncol Pharm Pract 2023 Apr;29(3):746-749. Epub 2022 Jul 29 doi: 10.1177/10781552221116329. PMID: 35903929
Gall E, Chaudhuri A, South AM
Pediatr Nephrol 2020 Oct;35(10):1967-1975. Epub 2020 May 8 doi: 10.1007/s00467-020-04577-5. PMID: 32385528Free PMC Article
Pereira PR, Pinho J, Rodrigues M, Rocha J, Sousa F, Amorim J, Ribeiro M, Rocha J, Ferreira C
Arq Neuropsiquiatr 2015 Jan;73(1):36-40. Epub 2015 Jan 1 doi: 10.1590/0004-282X20140176. PMID: 25608125
Noh Y, Seo SW, Jeon S, Lee JM, Kim JH, Kim GH, Cho H, Yoon CW, Kim HJ, Ye BS, Kim ST, Choe YS, Lee KH, Kim JS, Ewers M, Weiner MW, Lee JH, Werring DJ, Kang DR, Kim CS, Na DL
J Alzheimers Dis 2014;40(4):877-86. doi: 10.3233/JAD-130461. PMID: 24577457Free PMC Article

Recent systematic reviews

Iso-Markku P, Kujala UM, Knittle K, Polet J, Vuoksimaa E, Waller K
Br J Sports Med 2022 Jun;56(12):701-709. Epub 2022 Mar 17 doi: 10.1136/bjsports-2021-104981. PMID: 35301183Free PMC Article
Mühlbauer V, Möhler R, Dichter MN, Zuidema SU, Köpke S, Luijendijk HJ
Cochrane Database Syst Rev 2021 Dec 17;12(12):CD013304. doi: 10.1002/14651858.CD013304.pub2. PMID: 34918337Free PMC Article
Bosnjak Kuharic D, Markovic D, Brkovic T, Jeric Kegalj M, Rubic Z, Vuica Vukasovic A, Jeroncic A, Puljak L
Cochrane Database Syst Rev 2021 Sep 17;9(9):CD012820. doi: 10.1002/14651858.CD012820.pub2. PMID: 34532852Free PMC Article
Cao Q, Tan CC, Xu W, Hu H, Cao XP, Dong Q, Tan L, Yu JT
J Alzheimers Dis 2020;73(3):1157-1166. doi: 10.3233/JAD-191092. PMID: 31884487
McShane R, Westby MJ, Roberts E, Minakaran N, Schneider L, Farrimond LE, Maayan N, Ware J, Debarros J
Cochrane Database Syst Rev 2019 Mar 20;3(3):CD003154. doi: 10.1002/14651858.CD003154.pub6. PMID: 30891742Free PMC Article

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