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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

Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening.
Pierpont EI, Isaia AR, McCoy E, Brown SJ, Gupta AO, Eisengart JB
J Inherit Metab Dis 2023 Mar;46(2):174-193. Epub 2022 Dec 26 doi: 10.1002/jimd.12581. PMID: 36527290Free PMC Article
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
Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy.
Berger J, Pujol A, Aubourg P, Forss-Petter S
Brain Pathol 2010 Jul;20(4):845-56. doi: 10.1111/j.1750-3639.2010.00393.x. PMID: 20626746Free 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
Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.
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
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
Sensorimotor outcomes in adrenomyeloneuropathy show significant disease progression.
Keller JL, Eloyan A, Raymond GV, Fatemi A, Zackowski KM
J Inherit Metab Dis 2022 Mar;45(2):308-317. Epub 2021 Dec 9 doi: 10.1002/jimd.12457. PMID: 34796974Free 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
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
Adrenoleukodystrophy.
Cappa M, Bizzarri C, Vollono C, Petroni A, Banni S
Endocr Dev 2011;20:149-160. Epub 2010 Dec 16 doi: 10.1159/000321236. PMID: 21164268
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

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
Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.
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
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 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
Pearls: myelopathy.
Kumar N
Semin Neurol 2010 Feb;30(1):38-43. Epub 2010 Feb 1 doi: 10.1055/s-0029-1244993. PMID: 20127580
The adrenoleukodystrophies.
Moser HW, Naidu S, Kumar AJ, Rosenbaum AE
Crit Rev Neurobiol 1987;3(1):29-88. PMID: 3552451
Adrenoleukodystrophy.
Lenard HG
Neuropediatrics 1984 Sep;15 Suppl:16-9. doi: 10.1055/s-2008-1052375. PMID: 6100794

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