Etiology
Eichler F,
Duncan CN,
Musolino PL,
Lund TC,
Gupta AO,
De Oliveira S,
Thrasher AJ,
Aubourg P,
Kühl JS,
Loes DJ,
Amartino H,
Smith N,
Folloni Fernandes J,
Sevin C,
Sankar R,
Hussain SA,
Gissen P,
Dalle JH,
Platzbecker U,
Downey GF,
McNeil E,
Demopoulos L,
Dietz AC,
Thakar HL,
Orchard PJ,
Williams DA
N Engl J Med
2024 Oct 10;391(14):1302-1312.
doi: 10.1056/NEJMoa2400442.
PMID: 39383459
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
Tam EWY,
Chau V,
Lavoie R,
Chakravarty MM,
Guo T,
Synnes A,
Zwicker J,
Grunau R,
Miller SP
J Child Neurol
2019 Sep;34(10):586-592.
Epub 2019 May 21
doi: 10.1177/0883073819847925.
PMID: 31111765
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
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
Mascalchi M,
Montomoli M,
Guerrini R
Essays Biochem
2018 Jul 20;62(3):409-421.
doi: 10.1042/EBC20170109.
PMID: 30030366
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
Eichler F,
Duncan CN,
Musolino PL,
Lund TC,
Gupta AO,
De Oliveira S,
Thrasher AJ,
Aubourg P,
Kühl JS,
Loes DJ,
Amartino H,
Smith N,
Folloni Fernandes J,
Sevin C,
Sankar R,
Hussain SA,
Gissen P,
Dalle JH,
Platzbecker U,
Downey GF,
McNeil E,
Demopoulos L,
Dietz AC,
Thakar HL,
Orchard PJ,
Williams DA
N Engl J Med
2024 Oct 10;391(14):1302-1312.
doi: 10.1056/NEJMoa2400442.
PMID: 39383459
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
Harrison PJ
Brain
2002 Jul;125(Pt 7):1428-49.
doi: 10.1093/brain/awf149.
PMID: 12076995
Prognosis
Eichler F,
Duncan CN,
Musolino PL,
Lund TC,
Gupta AO,
De Oliveira S,
Thrasher AJ,
Aubourg P,
Kühl JS,
Loes DJ,
Amartino H,
Smith N,
Folloni Fernandes J,
Sevin C,
Sankar R,
Hussain SA,
Gissen P,
Dalle JH,
Platzbecker U,
Downey GF,
McNeil E,
Demopoulos L,
Dietz AC,
Thakar HL,
Orchard PJ,
Williams DA
N Engl J Med
2024 Oct 10;391(14):1302-1312.
doi: 10.1056/NEJMoa2400442.
PMID: 39383459
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
Tam EWY,
Chau V,
Lavoie R,
Chakravarty MM,
Guo T,
Synnes A,
Zwicker J,
Grunau R,
Miller SP
J Child Neurol
2019 Sep;34(10):586-592.
Epub 2019 May 21
doi: 10.1177/0883073819847925.
PMID: 31111765
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
Eichler F,
Duncan CN,
Musolino PL,
Lund TC,
Gupta AO,
De Oliveira S,
Thrasher AJ,
Aubourg P,
Kühl JS,
Loes DJ,
Amartino H,
Smith N,
Folloni Fernandes J,
Sevin C,
Sankar R,
Hussain SA,
Gissen P,
Dalle JH,
Platzbecker U,
Downey GF,
McNeil E,
Demopoulos L,
Dietz AC,
Thakar HL,
Orchard PJ,
Williams DA
N Engl J Med
2024 Oct 10;391(14):1302-1312.
doi: 10.1056/NEJMoa2400442.
PMID: 39383459
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
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