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Alexander disease type I

MedGen UID:
1820954
Concept ID:
C5769581
Disease or Syndrome
Synonyms: Alexander disease infantile form; Alexander's disease infantile form; AxD (Alexander disease) type I; AxD type I; Infantile Alexander disease; Infantile Alexander's disease
SNOMED CT: Alexander disease infantile form (1259106002); Infantile Alexander disease (1259106002); Infantile Alexander's disease (1259106002); Alexander's disease infantile form (1259106002); Alexander disease type I (1259106002); AxD (Alexander disease) type I (1259106002)
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

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
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
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

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
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
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
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

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
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
Yerevanian A, Soukas AA
Curr Obes Rep 2019 Jun;8(2):156-164. doi: 10.1007/s13679-019-00335-3. PMID: 30874963Free 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

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
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
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
Cohen MS, Chen YQ, McCauley M, Gamble T, Hosseinipour MC, Kumarasamy N, Hakim JG, Kumwenda J, Grinsztejn B, Pilotto JH, Godbole SV, Chariyalertsak S, Santos BR, Mayer KH, Hoffman IF, Eshleman SH, Piwowar-Manning E, Cottle L, Zhang XC, Makhema J, Mills LA, Panchia R, Faesen S, Eron J, Gallant J, Havlir D, Swindells S, Elharrar V, Burns D, Taha TE, Nielsen-Saines K, Celentano DD, Essex M, Hudelson SE, Redd AD, Fleming TR; HPTN 052 Study Team
N Engl J Med 2016 Sep 1;375(9):830-9. Epub 2016 Jul 18 doi: 10.1056/NEJMoa1600693. PMID: 27424812Free PMC Article

Clinical prediction guides

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
Sethi S, Haas M, Markowitz GS, D'Agati VD, Rennke HG, Jennette JC, Bajema IM, Alpers CE, Chang A, Cornell LD, Cosio FG, Fogo AB, Glassock RJ, Hariharan S, Kambham N, Lager DJ, Leung N, Mengel M, Nath KA, Roberts IS, Rovin BH, Seshan SV, Smith RJ, Walker PD, Winearls CG, Appel GB, Alexander MP, Cattran DC, Casado CA, Cook HT, De Vriese AS, Radhakrishnan J, Racusen LC, Ronco P, Fervenza FC
J Am Soc Nephrol 2016 May;27(5):1278-87. Epub 2015 Nov 13 doi: 10.1681/ASN.2015060612. PMID: 26567243Free 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

Badve SV, Bilal A, Lee MMY, Sattar N, Gerstein HC, Ruff CT, McMurray JJV, Rossing P, Bakris G, Mahaffey KW, Mann JFE, Colhoun HM, Tuttle KR, Pratley RE, Perkovic V
Lancet Diabetes Endocrinol 2025 Jan;13(1):15-28. Epub 2024 Nov 25 doi: 10.1016/S2213-8587(24)00271-7. PMID: 39608381
Genovese F, Bager C, Frederiksen P, Vazquez D, Sand JMB, Jenkins RG, Maher TM, Stewart ID, Molyneaux PL, Fahy WA, Wain LV, Vestbo J, Nanthakumar C, Shaker SB, Hoyer N, Leeming DJ, George J, Trebicka J, Rasmussen DGK, Hansen MK, Cockwell P, Kremer D, Bakker SJ, Selby NM, Reese-Petersen AL, González A, Núñez J, Rossing P, Nissen NI, Boisen MK, Chen IM, Zhao L, Karsdal MA, Schuppan D
Matrix Biol 2024 Sep;132:1-9. Epub 2024 Jun 11 doi: 10.1016/j.matbio.2024.06.003. PMID: 38871093
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
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

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