U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cerebral Adrenoleukodystrophy

MedGen UID:
1641046
Concept ID:
C4684865
Disease or Syndrome

Definition

A subtype of adrenoleukodystrophy (ALD) occurring in approximately 40 percent of boys with ALD, primarily affecting the cerebrum, resulting in rapidly declining neurocognitive function and in most patients, premature death. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCerebral Adrenoleukodystrophy

Professional guidelines

PubMed

Gupta AO, Raymond G, Pierpont EI, Kemp S, McIvor RS, Rayannavar A, Miller B, Lund TC, Orchard PJ
Expert Opin Biol Ther 2022 Sep;22(9):1151-1162. Epub 2022 Sep 19 doi: 10.1080/14712598.2022.2124857. PMID: 36107226
Ma CY, Li C, Zhou X, Zhang Z, Jiang H, Liu H, Chen HJ, Tse HF, Liao C, Lian Q
Biomed Pharmacother 2021 Nov;143:112214. Epub 2021 Sep 21 doi: 10.1016/j.biopha.2021.112214. PMID: 34560537
Engelen M, Kemp S, Poll-The BT
Curr Neurol Neurosci Rep 2014 Oct;14(10):486. doi: 10.1007/s11910-014-0486-0. PMID: 25115486

Recent clinical studies

Etiology

Lauer A, Speroni SL, Choi M, Da X, Duncan C, McCarthy S, Krishnan V, Lusk CA, Rohde D, Hansen MB, Kalpathy-Cramer J, Loes DJ, Caruso PA, Williams DA, Mouridsen K, Emblem KE, Eichler FS, Musolino PL
Nat Commun 2023 Apr 5;14(1):1900. doi: 10.1038/s41467-023-37262-w. PMID: 37019892Free PMC Article
Gupta AO, Raymond G, Pierpont EI, Kemp S, McIvor RS, Rayannavar A, Miller B, Lund TC, Orchard PJ
Expert Opin Biol Ther 2022 Sep;22(9):1151-1162. Epub 2022 Sep 19 doi: 10.1080/14712598.2022.2124857. PMID: 36107226
Mallack EJ, Van Haren KP, Torrey A, van de Stadt S, Engelen M, Raymond GV, Fatemi A, Eichler FS
Neurology 2022 Aug 1;99(5):e512-e520. doi: 10.1212/WNL.0000000000200571. PMID: 35609989Free PMC Article
Bonkowsky JL, Wilkes J
J Child Neurol 2022 Apr;37(5):397-400. Epub 2022 Mar 3 doi: 10.1177/08830738221081141. PMID: 35238239Free PMC Article
Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, Armant M, Dansereau C, Lund TC, Miller WP, Raymond GV, Sankar R, Shah AJ, Sevin C, Gaspar HB, Gissen P, Amartino H, Bratkovic D, Smith NJC, Paker AM, Shamir E, O'Meara T, Davidson D, Aubourg P, Williams DA
N Engl J Med 2017 Oct 26;377(17):1630-1638. Epub 2017 Oct 4 doi: 10.1056/NEJMoa1700554. PMID: 28976817Free PMC Article

Diagnosis

Weldrick CL, Boers P, Kiely P, O'Halloran L
BMJ Case Rep 2023 Oct 31;16(10) doi: 10.1136/bcr-2020-237905. PMID: 37907311Free PMC Article
Mallack EJ, Van Haren KP, Torrey A, van de Stadt S, Engelen M, Raymond GV, Fatemi A, Eichler FS
Neurology 2022 Aug 1;99(5):e512-e520. doi: 10.1212/WNL.0000000000200571. PMID: 35609989Free PMC Article
Bonkowsky JL, Wilkes J
J Child Neurol 2022 Apr;37(5):397-400. Epub 2022 Mar 3 doi: 10.1177/08830738221081141. PMID: 35238239Free PMC Article
Orchard PJ, Markowski TW, Higgins L, Raymond GV, Nascene DR, Miller WP, Pierpont EI, Lund TC
Sci Rep 2019 May 27;9(1):7858. doi: 10.1038/s41598-019-44140-3. PMID: 31133696Free PMC Article
Mittal A, Aggarwal KC
Indian J Med Res 2014 Aug;140(2):319-20. PMID: 25297370Free PMC Article

Therapy

Köhler W, Engelen M, Eichler F, Lachmann R, Fatemi A, Sampson J, Salsano E, Gamez J, Molnar MJ, Pascual S, Rovira M, Vilà A, Pina G, Martín-Ugarte I, Mantilla A, Pizcueta P, Rodríguez-Pascau L, Traver E, Vilalta A, Pascual M, Martinell M, Meya U, Mochel F; ADVANCE Study Group
Lancet Neurol 2023 Feb;22(2):127-136. doi: 10.1016/S1474-4422(22)00495-1. PMID: 36681445
Chiesa R, Boelens JJ, Duncan CN, Kühl JS, Sevin C, Kapoor N, Prasad VK, Lindemans CA, Jones SA, Amartino HM, Algeri M, Bunin N, Diaz-de-Heredia C, Loes DJ, Shamir E, Timm A, McNeil E, Dietz AC, Orchard PJ
Blood Adv 2022 Mar 8;6(5):1512-1524. doi: 10.1182/bloodadvances.2021005294. PMID: 34781360Free PMC Article
Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, Armant M, Dansereau C, Lund TC, Miller WP, Raymond GV, Sankar R, Shah AJ, Sevin C, Gaspar HB, Gissen P, Amartino H, Bratkovic D, Smith NJC, Paker AM, Shamir E, O'Meara T, Davidson D, Aubourg P, Williams DA
N Engl J Med 2017 Oct 26;377(17):1630-1638. Epub 2017 Oct 4 doi: 10.1056/NEJMoa1700554. PMID: 28976817Free PMC Article
Mittal A, Aggarwal KC
Indian J Med Res 2014 Aug;140(2):319-20. PMID: 25297370Free PMC Article
Khan M, Singh J, Singh I
J Neurochem 2008 Aug;106(4):1766-79. Epub 2008 Jun 7 doi: 10.1111/j.1471-4159.2008.05513.x. PMID: 18540993Free PMC Article

Prognosis

Sevin C, Hatteb S, Clément A, Bignami F, Chillotti L, Bugnard F, Bénard S, Boespflug-Tanguy O
Orphanet J Rare Dis 2023 Aug 10;18(1):238. doi: 10.1186/s13023-023-02843-x. PMID: 37563635Free PMC Article
Köhler W, Engelen M, Eichler F, Lachmann R, Fatemi A, Sampson J, Salsano E, Gamez J, Molnar MJ, Pascual S, Rovira M, Vilà A, Pina G, Martín-Ugarte I, Mantilla A, Pizcueta P, Rodríguez-Pascau L, Traver E, Vilalta A, Pascual M, Martinell M, Meya U, Mochel F; ADVANCE Study Group
Lancet Neurol 2023 Feb;22(2):127-136. doi: 10.1016/S1474-4422(22)00495-1. PMID: 36681445
Mallack EJ, Van Haren KP, Torrey A, van de Stadt S, Engelen M, Raymond GV, Fatemi A, Eichler FS
Neurology 2022 Aug 1;99(5):e512-e520. doi: 10.1212/WNL.0000000000200571. PMID: 35609989Free PMC Article
Mallack EJ, van de Stadt S, Caruso PA, Musolino PL, Sadjadi R, Engelen M, Eichler FS
Neurology 2020 Jun 16;94(24):e2499-e2507. Epub 2020 Jun 1 doi: 10.1212/WNL.0000000000009626. PMID: 32482842Free PMC Article
Orchard PJ, Markowski TW, Higgins L, Raymond GV, Nascene DR, Miller WP, Pierpont EI, Lund TC
Sci Rep 2019 May 27;9(1):7858. doi: 10.1038/s41598-019-44140-3. PMID: 31133696Free PMC Article

Clinical prediction guides

Mallack EJ, Van Haren KP, Torrey A, van de Stadt S, Engelen M, Raymond GV, Fatemi A, Eichler FS
Neurology 2022 Aug 1;99(5):e512-e520. doi: 10.1212/WNL.0000000000200571. PMID: 35609989Free PMC Article
Ma CY, Li C, Zhou X, Zhang Z, Jiang H, Liu H, Chen HJ, Tse HF, Liao C, Lian Q
Biomed Pharmacother 2021 Nov;143:112214. Epub 2021 Sep 21 doi: 10.1016/j.biopha.2021.112214. PMID: 34560537
Mallack EJ, van de Stadt S, Caruso PA, Musolino PL, Sadjadi R, Engelen M, Eichler FS
Neurology 2020 Jun 16;94(24):e2499-e2507. Epub 2020 Jun 1 doi: 10.1212/WNL.0000000000009626. PMID: 32482842Free PMC Article
Orchard PJ, Markowski TW, Higgins L, Raymond GV, Nascene DR, Miller WP, Pierpont EI, Lund TC
Sci Rep 2019 May 27;9(1):7858. doi: 10.1038/s41598-019-44140-3. PMID: 31133696Free PMC Article
Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, Armant M, Dansereau C, Lund TC, Miller WP, Raymond GV, Sankar R, Shah AJ, Sevin C, Gaspar HB, Gissen P, Amartino H, Bratkovic D, Smith NJC, Paker AM, Shamir E, O'Meara T, Davidson D, Aubourg P, Williams DA
N Engl J Med 2017 Oct 26;377(17):1630-1638. Epub 2017 Oct 4 doi: 10.1056/NEJMoa1700554. PMID: 28976817Free PMC Article

Recent systematic reviews

Mallack EJ, Turk BR, Yan H, Price C, Demetres M, Moser AB, Becker C, Hollandsworth K, Adang L, Vanderver A, Van Haren K, Ruzhnikov M, Kurtzberg J, Maegawa G, Orchard PJ, Lund TC, Raymond GV, Regelmann M, Orsini JJ, Seeger E, Kemp S, Eichler F, Fatemi A
J Inherit Metab Dis 2021 May;44(3):728-739. Epub 2021 Jan 9 doi: 10.1002/jimd.12356. PMID: 33373467Free PMC Article

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...