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Alexander disease type I

MedGen UID:
1842668
Concept ID:
C5679915
Disease or Syndrome
Synonym: AxD type I
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0018209
Orphanet: ORPHA363717

Definition

An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration. [from ORDO]

Professional guidelines

PubMed

Wheeler MA, Clark IC, Lee HG, Li Z, Linnerbauer M, Rone JM, Blain M, Akl CF, Piester G, Giovannoni F, Charabati M, Lee JH, Kye YC, Choi J, Sanmarco LM, Srun L, Chung EN, Flausino LE, Andersen BM, Rothhammer V, Yano H, Illouz T, Zandee SEJ, Daniel C, Artis D, Prinz M, Abate AR, Kuchroo VK, Antel JP, Prat A, Quintana FJ
Science 2023 Mar 10;379(6636):1023-1030. Epub 2023 Mar 9 doi: 10.1126/science.abq4822. PMID: 36893254Free PMC Article
Deprez PH, Moons LMG, OʼToole D, Gincul R, Seicean A, Pimentel-Nunes P, Fernández-Esparrach G, Polkowski M, Vieth M, Borbath I, Moreels TG, Nieveen van Dijkum E, Blay JY, van Hooft JE
Endoscopy 2022 Apr;54(4):412-429. Epub 2022 Feb 18 doi: 10.1055/a-1751-5742. PMID: 35180797
Desmoid Tumor Working Group
Eur J Cancer 2020 Mar;127:96-107. Epub 2020 Jan 28 doi: 10.1016/j.ejca.2019.11.013. PMID: 32004793

Recent clinical studies

Etiology

Govaere O, Hasoon M, Alexander L, Cockell S, Tiniakos D, Ekstedt M, Schattenberg JM, Boursier J, Bugianesi E, Ratziu V; LITMUS Investigators, Daly AK, Anstee QM
Nat Metab 2023 Apr;5(4):572-578. Epub 2023 Apr 10 doi: 10.1038/s42255-023-00775-1. PMID: 37037945Free PMC Article
McGuire DK, Busui RP, Deanfield J, Inzucchi SE, Mann JFE, Marx N, Mulvagh SL, Poulter N, Engelmann MDM, Hovingh GK, Ripa MS, Gislum M, Brown-Frandsen K, Buse JB
Diabetes Obes Metab 2023 Jul;25(7):1932-1941. Epub 2023 Apr 11 doi: 10.1111/dom.15058. PMID: 36945734
Green JB, Mottl AK, Bakris G, Heerspink HJL, Mann JFE, McGill JB, Nangaku M, Rossing P, Scott C, Gay A, Agarwal R
Nephrol Dial Transplant 2023 Mar 31;38(4):894-903. doi: 10.1093/ndt/gfac198. PMID: 35700142Free PMC Article
Soh Z, Richards AJ, McNinch A, Alexander P, Martin H, Snead MP
Genes (Basel) 2022 Jun 18;13(6) doi: 10.3390/genes13061089. PMID: 35741851Free PMC Article
Falk RH, Alexander KM, Liao R, Dorbala S
J Am Coll Cardiol 2016 Sep 20;68(12):1323-41. doi: 10.1016/j.jacc.2016.06.053. PMID: 27634125

Diagnosis

Lamberti G, Panzuto F, Pavel M, O'Toole D, Ambrosini V, Falconi M, Garcia-Carbonero R, Riechelmann RP, Rindi G, Campana D
Nat Rev Dis Primers 2024 Apr 11;10(1):25. doi: 10.1038/s41572-024-00508-y. PMID: 38605021
Lincoff AM, Bhasin S, Flevaris P, Mitchell LM, Basaria S, Boden WE, Cunningham GR, Granger CB, Khera M, Thompson IM Jr, Wang Q, Wolski K, Davey D, Kalahasti V, Khan N, Miller MG, Snabes MC, Chan A, Dubcenco E, Li X, Yi T, Huang B, Pencina KM, Travison TG, Nissen SE; TRAVERSE Study Investigators
N Engl J Med 2023 Jul 13;389(2):107-117. Epub 2023 Jun 16 doi: 10.1056/NEJMoa2215025. PMID: 37326322
Deprez PH, Moons LMG, OʼToole D, Gincul R, Seicean A, Pimentel-Nunes P, Fernández-Esparrach G, Polkowski M, Vieth M, Borbath I, Moreels TG, Nieveen van Dijkum E, Blay JY, van Hooft JE
Endoscopy 2022 Apr;54(4):412-429. Epub 2022 Feb 18 doi: 10.1055/a-1751-5742. PMID: 35180797
Manson JE, Cook NR, Lee IM, Christen W, Bassuk SS, Mora S, Gibson H, Gordon D, Copeland T, D'Agostino D, Friedenberg G, Ridge C, Bubes V, Giovannucci EL, Willett WC, Buring JE; VITAL Research Group
N Engl J Med 2019 Jan 3;380(1):33-44. Epub 2018 Nov 10 doi: 10.1056/NEJMoa1809944. PMID: 30415629Free PMC Article
Falk RH, Alexander KM, Liao R, Dorbala S
J Am Coll Cardiol 2016 Sep 20;68(12):1323-41. doi: 10.1016/j.jacc.2016.06.053. PMID: 27634125

Therapy

Perkovic V, Tuttle KR, Rossing P, Mahaffey KW, Mann JFE, Bakris G, Baeres FMM, Idorn T, Bosch-Traberg H, Lausvig NL, Pratley R; FLOW Trial Committees and Investigators
N Engl J Med 2024 Jul 11;391(2):109-121. Epub 2024 May 24 doi: 10.1056/NEJMoa2403347. PMID: 38785209
Lincoff AM, Bhasin S, Flevaris P, Mitchell LM, Basaria S, Boden WE, Cunningham GR, Granger CB, Khera M, Thompson IM Jr, Wang Q, Wolski K, Davey D, Kalahasti V, Khan N, Miller MG, Snabes MC, Chan A, Dubcenco E, Li X, Yi T, Huang B, Pencina KM, Travison TG, Nissen SE; TRAVERSE Study Investigators
N Engl J Med 2023 Jul 13;389(2):107-117. Epub 2023 Jun 16 doi: 10.1056/NEJMoa2215025. PMID: 37326322
McGuire DK, Busui RP, Deanfield J, Inzucchi SE, Mann JFE, Marx N, Mulvagh SL, Poulter N, Engelmann MDM, Hovingh GK, Ripa MS, Gislum M, Brown-Frandsen K, Buse JB
Diabetes Obes Metab 2023 Jul;25(7):1932-1941. Epub 2023 Apr 11 doi: 10.1111/dom.15058. PMID: 36945734
The EMPA-KIDNEY Collaborative Group, Herrington WG, Staplin N, Wanner C, Green JB, Hauske SJ, Emberson JR, Preiss D, Judge P, Mayne KJ, Ng SYA, Sammons E, Zhu D, Hill M, Stevens W, Wallendszus K, Brenner S, Cheung AK, Liu ZH, Li J, Hooi LS, Liu W, Kadowaki T, Nangaku M, Levin A, Cherney D, Maggioni AP, Pontremoli R, Deo R, Goto S, Rossello X, Tuttle KR, Steubl D, Petrini M, Massey D, Eilbracht J, Brueckmann M, Landray MJ, Baigent C, Haynes R
N Engl J Med 2023 Jan 12;388(2):117-127. Epub 2022 Nov 4 doi: 10.1056/NEJMoa2204233. PMID: 36331190Free PMC Article
Manson JE, Cook NR, Lee IM, Christen W, Bassuk SS, Mora S, Gibson H, Gordon D, Copeland T, D'Agostino D, Friedenberg G, Ridge C, Bubes V, Giovannucci EL, Willett WC, Buring JE; VITAL Research Group
N Engl J Med 2019 Jan 3;380(1):33-44. Epub 2018 Nov 10 doi: 10.1056/NEJMoa1809944. PMID: 30415629Free PMC Article

Prognosis

Ruth KS, Day FR, Hussain J, Martínez-Marchal A, Aiken CE, Azad A, Thompson DJ, Knoblochova L, Abe H, Tarry-Adkins JL, Gonzalez JM, Fontanillas P, Claringbould A, Bakker OB, Sulem P, Walters RG, Terao C, Turon S, Horikoshi M, Lin K, Onland-Moret NC, Sankar A, Hertz EPT, Timshel PN, Shukla V, Borup R, Olsen KW, Aguilera P, Ferrer-Roda M, Huang Y, Stankovic S, Timmers PRHJ, Ahearn TU, Alizadeh BZ, Naderi E, Andrulis IL, Arnold AM, Aronson KJ, Augustinsson A, Bandinelli S, Barbieri CM, Beaumont RN, Becher H, Beckmann MW, Benonisdottir S, Bergmann S, Bochud M, Boerwinkle E, Bojesen SE, Bolla MK, Boomsma DI, Bowker N, Brody JA, Broer L, Buring JE, Campbell A, Campbell H, Castelao JE, Catamo E, Chanock SJ, Chenevix-Trench G, Ciullo M, Corre T, Couch FJ, Cox A, Crisponi L, Cross SS, Cucca F, Czene K, Smith GD, de Geus EJCN, de Mutsert R, De Vivo I, Demerath EW, Dennis J, Dunning AM, Dwek M, Eriksson M, Esko T, Fasching PA, Faul JD, Ferrucci L, Franceschini N, Frayling TM, Gago-Dominguez M, Mezzavilla M, García-Closas M, Gieger C, Giles GG, Grallert H, Gudbjartsson DF, Gudnason V, Guénel P, Haiman CA, Håkansson N, Hall P, Hayward C, He C, He W, Heiss G, Høffding MK, Hopper JL, Hottenga JJ, Hu F, Hunter D, Ikram MA, Jackson RD, Joaquim MDR, John EM, Joshi PK, Karasik D, Kardia SLR, Kartsonaki C, Karlsson R, Kitahara CM, Kolcic I, Kooperberg C, Kraft P, Kurian AW, Kutalik Z, La Bianca M, LaChance G, Langenberg C, Launer LJ, Laven JSE, Lawlor DA, Le Marchand L, Li J, Lindblom A, Lindstrom S, Lindstrom T, Linet M, Liu Y, Liu S, Luan J, Mägi R, Magnusson PKE, Mangino M, Mannermaa A, Marco B, Marten J, Martin NG, Mbarek H, McKnight B, Medland SE, Meisinger C, Meitinger T, Menni C, Metspalu A, Milani L, Milne RL, Montgomery GW, Mook-Kanamori DO, Mulas A, Mulligan AM, Murray A, Nalls MA, Newman A, Noordam R, Nutile T, Nyholt DR, Olshan AF, Olsson H, Painter JN, Patel AV, Pedersen NL, Perjakova N, Peters A, Peters U, Pharoah PDP, Polasek O, Porcu E, Psaty BM, Rahman I, Rennert G, Rennert HS, Ridker PM, Ring SM, Robino A, Rose LM, Rosendaal FR, Rossouw J, Rudan I, Rueedi R, Ruggiero D, Sala CF, Saloustros E, Sandler DP, Sanna S, Sawyer EJ, Sarnowski C, Schlessinger D, Schmidt MK, Schoemaker MJ, Schraut KE, Scott C, Shekari S, Shrikhande A, Smith AV, Smith BH, Smith JA, Sorice R, Southey MC, Spector TD, Spinelli JJ, Stampfer M, Stöckl D, van Meurs JBJ, Strauch K, Styrkarsdottir U, Swerdlow AJ, Tanaka T, Teras LR, Teumer A, Þorsteinsdottir U, Timpson NJ, Toniolo D, Traglia M, Troester MA, Truong T, Tyrrell J, Uitterlinden AG, Ulivi S, Vachon CM, Vitart V, Völker U, Vollenweider P, Völzke H, Wang Q, Wareham NJ, Weinberg CR, Weir DR, Wilcox AN, van Dijk KW, Willemsen G, Wilson JF, Wolffenbuttel BHR, Wolk A, Wood AR, Zhao W, Zygmunt M; Biobank-based Integrative Omics Study (BIOS) Consortium; eQTLGen Consortium; Biobank Japan Project; China Kadoorie Biobank Collaborative Group; kConFab Investigators; LifeLines Cohort Study; InterAct consortium; 23andMe Research Team, Chen Z, Li L, Franke L, Burgess S, Deelen P, Pers TH, Grøndahl ML, Andersen CY, Pujol A, Lopez-Contreras AJ, Daniel JA, Stefansson K, Chang-Claude J, van der Schouw YT, Lunetta KL, Chasman DI, Easton DF, Visser JA, Ozanne SE, Namekawa SH, Solc P, Murabito JM, Ong KK, Hoffmann ER, Murray A, Roig I, Perry JRB
Nature 2021 Aug;596(7872):393-397. Epub 2021 Aug 4 doi: 10.1038/s41586-021-03779-7. PMID: 34349265Free PMC Article
Desmoid Tumor Working Group
Eur J Cancer 2020 Mar;127:96-107. Epub 2020 Jan 28 doi: 10.1016/j.ejca.2019.11.013. PMID: 32004793
Manson JE, Cook NR, Lee IM, Christen W, Bassuk SS, Mora S, Gibson H, Albert CM, Gordon D, Copeland T, D'Agostino D, Friedenberg G, Ridge C, Bubes V, Giovannucci EL, Willett WC, Buring JE; VITAL Research Group
N Engl J Med 2019 Jan 3;380(1):23-32. Epub 2018 Nov 10 doi: 10.1056/NEJMoa1811403. PMID: 30415637Free PMC Article
Manson JE, Cook NR, Lee IM, Christen W, Bassuk SS, Mora S, Gibson H, Gordon D, Copeland T, D'Agostino D, Friedenberg G, Ridge C, Bubes V, Giovannucci EL, Willett WC, Buring JE; VITAL Research Group
N Engl J Med 2019 Jan 3;380(1):33-44. Epub 2018 Nov 10 doi: 10.1056/NEJMoa1809944. PMID: 30415629Free PMC Article
Falk RH, Alexander KM, Liao R, Dorbala S
J Am Coll Cardiol 2016 Sep 20;68(12):1323-41. doi: 10.1016/j.jacc.2016.06.053. PMID: 27634125

Clinical prediction guides

Lincoff AM, Bhasin S, Flevaris P, Mitchell LM, Basaria S, Boden WE, Cunningham GR, Granger CB, Khera M, Thompson IM Jr, Wang Q, Wolski K, Davey D, Kalahasti V, Khan N, Miller MG, Snabes MC, Chan A, Dubcenco E, Li X, Yi T, Huang B, Pencina KM, Travison TG, Nissen SE; TRAVERSE Study Investigators
N Engl J Med 2023 Jul 13;389(2):107-117. Epub 2023 Jun 16 doi: 10.1056/NEJMoa2215025. PMID: 37326322
GBD 2019 Diabetes and Air Pollution Collaborators
Lancet Planet Health 2022 Jul;6(7):e586-e600. doi: 10.1016/S2542-5196(22)00122-X. PMID: 35809588Free PMC Article
Hodkinson A, Tsimpida D, Kontopantelis E, Rutter MK, Mamas MA, Panagioti M
BMJ 2022 Mar 24;376:e067731. doi: 10.1136/bmj-2021-067731. PMID: 35331984Free PMC Article
Torquati L, Mielke GI, Brown WJ, Burton NW, Kolbe-Alexander TL
Am J Public Health 2019 Nov;109(11):e13-e20. Epub 2019 Sep 19 doi: 10.2105/AJPH.2019.305278. PMID: 31536404Free PMC Article
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes
Kidney Int 2015 Oct;88(4):676-83. Epub 2015 Mar 4 doi: 10.1038/ki.2015.28. PMID: 25738250

Recent systematic reviews

Seth R, Agarwala SS, Messersmith H, Alluri KC, Ascierto PA, Atkins MB, Bollin K, Chacon M, Davis N, Faries MB, Funchain P, Gold JS, Guild S, Gyorki DE, Kaur V, Khushalani NI, Kirkwood JM, McQuade JL, Meyers MO, Provenzano A, Robert C, Santinami M, Sehdev A, Sondak VK, Spurrier G, Swami U, Truong TG, Tsai KK, van Akkooi A, Weber J
J Clin Oncol 2023 Oct 20;41(30):4794-4820. Epub 2023 Aug 14 doi: 10.1200/JCO.23.01136. PMID: 37579248
Hodkinson A, Tsimpida D, Kontopantelis E, Rutter MK, Mamas MA, Panagioti M
BMJ 2022 Mar 24;376:e067731. doi: 10.1136/bmj-2021-067731. PMID: 35331984Free PMC Article
Heyward J, Mansour O, Olson L, Singh S, Alexander GC
PLoS One 2020;15(6):e0234065. Epub 2020 Jun 5 doi: 10.1371/journal.pone.0234065. PMID: 32502190Free PMC Article
Torquati L, Mielke GI, Brown WJ, Burton NW, Kolbe-Alexander TL
Am J Public Health 2019 Nov;109(11):e13-e20. Epub 2019 Sep 19 doi: 10.2105/AJPH.2019.305278. PMID: 31536404Free PMC Article
Yurko-Mauro K, Alexander DD, Van Elswyk ME
PLoS One 2015;10(3):e0120391. Epub 2015 Mar 18 doi: 10.1371/journal.pone.0120391. PMID: 25786262Free PMC Article

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