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Adrenomyeloneuropathy(AMN)

MedGen UID:
315918
•Concept ID:
C1527231
•
Disease or Syndrome
Synonyms: ADRENOMYELONEUROPATHY; AMN
SNOMED CT: AMN - adrenomyeloneuropathy (1269423000); Adult onset adrenoleukodystrophy (1269423000); Adrenomyeloneuropathy (1269423000)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015339
OMIM®: 300100; 300371
Orphanet: ORPHA139399

Definition

A form of the peroxisomal disease X-linked adrenoleukodystrophy, characterized by progressive myelopathy and peripheral neuropathy, and often associated with peripheral adrenal insufficiency in males. Onset is typically in adulthood. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Adrenomyeloneuropathy in Orphanet.

Professional guidelines

PubMed

Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapies.
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
Management of X-linked adrenoleukodystrophy in Morocco: actual situation.
Benjelloun FZM, Kriouile Y, Cheillan D, Daoud-Tetouani H, Chabraoui L
BMC Res Notes 2017 Nov 7;10(1):567. doi: 10.1186/s13104-017-2902-4. PMID: 29116030Free PMC Article
Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.
Theda C, Gibbons K, Defor TE, Donohue PK, Golden WC, Kline AD, Gulamali-Majid F, Panny SR, Hubbard WC, Jones RO, Liu AK, Moser AB, Raymond GV
Mol Genet Metab 2014 Jan;111(1):55-7. Epub 2013 Nov 9 doi: 10.1016/j.ymgme.2013.10.019. PMID: 24268529Free PMC Article

Recent clinical studies

Etiology

X-linked adrenoleukodystrophy and primary adrenal insufficiency.
Cappa M, Todisco T, Bizzarri C
Front Endocrinol (Lausanne) 2023;14:1309053. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1309053. PMID: 38034003Free PMC Article
Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.
Weinhofer I, Rommer P, Gleiss A, Ponleitner M, Zierfuss B, Waidhofer-Söllner P, Fourcade S, Grabmeier-Pfistershammer K, Reinert MC, Göpfert J, Heine A, Yska HAF, Casasnovas C, Cantarín V, Bergner CG, Mallack E, Forss-Petter S, Aubourg P, Bley A, Engelen M, Eichler F, Lund TC, Pujol A, Köhler W, Kühl JS, Berger J
EBioMedicine 2023 Oct;96:104781. Epub 2023 Sep 7 doi: 10.1016/j.ebiom.2023.104781. PMID: 37683329Free PMC Article
Restless Legs Syndrome in X-linked adrenoleukodystrophy.
Winkelman JW, Grant NR, Molay F, Stephen CD, Sadjadi R, Eichler FS
Sleep Med 2022 Mar;91:31-34. Epub 2022 Feb 16 doi: 10.1016/j.sleep.2022.02.008. PMID: 35245789Free PMC Article
Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders.
Poll-The BT, Gärtner J
Biochim Biophys Acta 2012 Sep;1822(9):1421-9. Epub 2012 Mar 28 doi: 10.1016/j.bbadis.2012.03.011. PMID: 22483868
Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis.
Spurek M, Taylor-Gjevre R, Van Uum S, Khandwala HM
CMAJ 2004 Oct 26;171(9):1073-7. doi: 10.1503/cmaj.1032006. PMID: 15505272Free PMC Article

Diagnosis

X-linked adrenoleukodystrophy and primary adrenal insufficiency.
Cappa M, Todisco T, Bizzarri C
Front Endocrinol (Lausanne) 2023;14:1309053. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1309053. PMID: 38034003Free PMC Article
Inherited myelopathies.
Maas JW Jr
Semin Neurol 2012 Apr;32(2):114-22. Epub 2012 Sep 8 doi: 10.1055/s-0032-1322581. PMID: 22961186
X-linked adrenoleukodystrophy.
Moser HW, Mahmood A, Raymond GV
Nat Clin Pract Neurol 2007 Mar;3(3):140-51. doi: 10.1038/ncpneuro0421. PMID: 17342190
Adrenomyeloneuropathy.
Mehndiratta MM, Rao KB, Garg S, Pandey S
J Assoc Physicians India 2005 Jun;53:562-3. PMID: 16121813
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW
Hum Mutat 2001 Dec;18(6):499-515. doi: 10.1002/humu.1227. PMID: 11748843

Therapy

X-linked adrenoleukodystrophy and primary adrenal insufficiency.
Cappa M, Todisco T, Bizzarri C
Front Endocrinol (Lausanne) 2023;14:1309053. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1309053. PMID: 38034003Free PMC Article
Adrenomyeloneuropathy.
Misra S, Ramesh R, Ramu ChS, Srirangalaxmi G, Radhakrishn H, Vajresware
J Assoc Physicians India 2012 Jul;60:58-61. PMID: 23405547
X-linked adrenoleukodystrophy.
Moser HW, Mahmood A, Raymond GV
Nat Clin Pract Neurol 2007 Mar;3(3):140-51. doi: 10.1038/ncpneuro0421. PMID: 17342190
Progress in X-linked adrenoleukodystrophy.
Moser H, Dubey P, Fatemi A
Curr Opin Neurol 2004 Jun;17(3):263-9. doi: 10.1097/00019052-200406000-00005. PMID: 15167059
Clinical and therapeutic aspects of adrenoleukodystrophy and adrenomyeloneuropathy.
Moser HW
J Neuropathol Exp Neurol 1995 Sep;54(5):740-5. doi: 10.1097/00005072-199509000-00017. PMID: 7666063

Prognosis

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.
Weinhofer I, Rommer P, Gleiss A, Ponleitner M, Zierfuss B, Waidhofer-Söllner P, Fourcade S, Grabmeier-Pfistershammer K, Reinert MC, Göpfert J, Heine A, Yska HAF, Casasnovas C, Cantarín V, Bergner CG, Mallack E, Forss-Petter S, Aubourg P, Bley A, Engelen M, Eichler F, Lund TC, Pujol A, Köhler W, Kühl JS, Berger J
EBioMedicine 2023 Oct;96:104781. Epub 2023 Sep 7 doi: 10.1016/j.ebiom.2023.104781. PMID: 37683329Free PMC Article
Adrenomyeloneuropathy.
Misra S, Ramesh R, Ramu ChS, Srirangalaxmi G, Radhakrishn H, Vajresware
J Assoc Physicians India 2012 Jul;60:58-61. PMID: 23405547
Peroxisomal leukoencephalopathy.
Poll-The BT, Engelen M
Semin Neurol 2012 Feb;32(1):42-50. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306385. PMID: 22422205
Pearls: myelopathy.
Kumar N
Semin Neurol 2010 Feb;30(1):38-43. Epub 2010 Feb 1 doi: 10.1055/s-0029-1244993. PMID: 20127580
Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy.
Moser HW, Moser AB, Naidu S, Bergin A
Dev Neurosci 1991;13(4-5):254-61. doi: 10.1159/000112170. PMID: 1817030

Clinical prediction guides

Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans.
Gong Y, Laheji F, Berenson A, Li Y, Moser A, Qian A, Frosch M, Sadjadi R, Hahn R, Maguire CA, Eichler F
Ann Neurol 2024 Mar;95(3):442-458. Epub 2023 Dec 26 doi: 10.1002/ana.26849. PMID: 38062617Free PMC Article
X-linked adrenoleukodystrophy and primary adrenal insufficiency.
Cappa M, Todisco T, Bizzarri C
Front Endocrinol (Lausanne) 2023;14:1309053. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1309053. PMID: 38034003Free PMC Article
Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.
Weinhofer I, Rommer P, Gleiss A, Ponleitner M, Zierfuss B, Waidhofer-Söllner P, Fourcade S, Grabmeier-Pfistershammer K, Reinert MC, Göpfert J, Heine A, Yska HAF, Casasnovas C, Cantarín V, Bergner CG, Mallack E, Forss-Petter S, Aubourg P, Bley A, Engelen M, Eichler F, Lund TC, Pujol A, Köhler W, Kühl JS, Berger J
EBioMedicine 2023 Oct;96:104781. Epub 2023 Sep 7 doi: 10.1016/j.ebiom.2023.104781. PMID: 37683329Free PMC Article
Pearls: myelopathy.
Kumar N
Semin Neurol 2010 Feb;30(1):38-43. Epub 2010 Feb 1 doi: 10.1055/s-0029-1244993. PMID: 20127580
Adrenoleukodystrophy.
Lenard HG
Neuropediatrics 1984 Sep;15 Suppl:16-9. doi: 10.1055/s-2008-1052375. PMID: 6100794

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