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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
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
Comment on the paper "Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit".
Engelen M, Ofman R, Dijkgraaf M, van Geel B, de Visser M, Wanders R, Poll-The BT, Kemp S
Clin Neurol Neurosurg 2013 Nov;115(11):2401-2. Epub 2013 Aug 22 doi: 10.1016/j.clineuro.2013.07.040. PMID: 24018110

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
ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy.
Niu YF, Ni W, Wu ZY
Gene 2013 Jun 10;522(1):117-20. Epub 2013 Apr 5 doi: 10.1016/j.gene.2013.03.067. PMID: 23566833
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
Brain MRI and electrophysiologic abnormalities in preclinical and clinical adrenomyeloneuropathy.
Aubourg P, Adamsbaum C, Lavallard-Rousseau MC, Lemaitre A, Boureau F, Mayer M, Kalifa G
Neurology 1992 Jan;42(1):85-91. doi: 10.1212/wnl.42.1.85. PMID: 1734328
Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy.
Uziel G, Bertini E, Bardelli P, Rimoldi M, Gambetti M
Dev Neurosci 1991;13(4-5):274-9. doi: 10.1159/000112173. PMID: 1817033

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
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: clinical, metabolic, genetic and pathophysiological aspects.
Kemp S, Berger J, Aubourg P
Biochim Biophys Acta 2012 Sep;1822(9):1465-74. Epub 2012 Mar 28 doi: 10.1016/j.bbadis.2012.03.012. PMID: 22483867
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
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

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
Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy.
Jønch AE, Danielsen ER, Thomsen C, Meden P, Svenstrup K, Nielsen JE
BMC Neurol 2012 Sep 26;12:108. doi: 10.1186/1471-2377-12-108. PMID: 23009600Free PMC Article
Alpha-cobratoxin as a possible therapy for multiple sclerosis: a review of the literature leading to its development for this application.
Reid PF
Crit Rev Immunol 2007;27(4):291-302. doi: 10.1615/critrevimmunol.v27.i4.10. PMID: 18197810
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

Prognosis

Adrenomyeloneuropathy.
Misra S, Ramesh R, Ramu ChS, Srirangalaxmi G, Radhakrishn H, Vajresware
J Assoc Physicians India 2012 Jul;60:58-61. PMID: 23405547
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
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
Leukodystrophy incidence in Germany.
Heim P, Claussen M, Hoffmann B, Conzelmann E, Gärtner J, Harzer K, Hunneman DH, Köhler W, Kurlemann G, Kohlschütter A
Am J Med Genet 1997 Sep 5;71(4):475-8. PMID: 9286459
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

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
Neurofilament light chain levels in cerebrospinal fluid as a sensitive biomarker for cerebral adrenoleukodystrophy.
Kakumoto T, Matsukawa T, Ishiura H, Mori H, Tsuji S, Toda T
Ann Clin Transl Neurol 2023 Jul;10(7):1230-1238. Epub 2023 May 31 doi: 10.1002/acn3.51818. PMID: 37259474Free PMC Article
Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy.
Weinhofer I, Rommer P, Zierfuss B, Altmann P, Foiani M, Heslegrave A, Zetterberg H, Gleiss A, Musolino PL, Gong Y, Forss-Petter S, Berger T, Eichler F, Aubourg P, Köhler W, Berger J
Nat Commun 2021 Mar 22;12(1):1816. doi: 10.1038/s41467-021-22114-2. PMID: 33753741Free PMC Article
Hematopoietic stem cell transplantation and hematopoietic stem cell gene therapy in X-linked adrenoleukodystrophy.
Cartier N, Aubourg P
Brain Pathol 2010 Jul;20(4):857-62. doi: 10.1111/j.1750-3639.2010.00394.x. PMID: 20626747Free PMC Article

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