Display options
Cite
Horn MA, Mikaelsen KB, Ferdinandusse S, et al. Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report. Clin Case Rep. 2015;4(2):177-81doi: 10.1002/ccr3.434.
Horn, M. A., Mikaelsen, K. B., Ferdinandusse, S., Jørum, E., Mellgren, S. I., Retterstøl, L., Wanders, R. J., & Tallaksen, C. M. (2016). Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report. Clinical case reports, 4(2), 177-81. https://doi.org/10.1002/ccr3.434
Horn, Morten A, et al. "Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report." Clinical case reports vol. 4,2 (2016): 177-81. doi: https://doi.org/10.1002/ccr3.434
Horn MA, Mikaelsen KB, Ferdinandusse S, Jørum E, Mellgren SI, Retterstøl L, Wanders RJ, Tallaksen CM. Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report. Clin Case Rep. 2015 Dec 21;4(2):177-81. doi: 10.1002/ccr3.434. eCollection 2016 Feb. PMID: 26862418; PMCID: PMC4736514.
Copy Download .nbib Format: NLM
Share it on

Clin Case Rep. 2015 Dec 21;4(2):177-81. doi: 10.1002/ccr3.434. eCollection 2016 Feb.

Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.

Clinical case reports

Morten A Horn, Karin B M Mikaelsen, Sacha Ferdinandusse, Ellen Jørum, Svein I Mellgren, Lars Retterstøl, Ronald J A Wanders, Chantal M E Tallaksen

Affiliations

  1. Department of Neurology Oslo University Hospital PO Box 4956 Nydalen Oslo N-0424 Norway; Department of Neurology Faculty of Medicine University of Oslo PO Box 1078 Blindern Oslo N-0316 Norway.
  2. Department of Neurology Molde Hospital HF Parkveien 84 Molde N-6407 Norway.
  3. Laboratory Genetic Metabolic Diseases Department of Clinical Chemistry Academic Medical Centre Meibergdreef 9 Amsterdam 1105 AZ The Netherlands.
  4. Department of Neurology University Hospital of Northern Norway Tromsø N-9038 Norway; Department of Clinical Medicine UiT the Arctic University of Norway PO Box 6050 Langnes N-9037 Tromsø Norway.
  5. Department of Medical Genetics Oslo University Hospital N-0424 Oslo Norway.

PMID: 26862418 PMCID: PMC4736514 DOI: 10.1002/ccr3.434

Abstract

X-linked adrenoleukodystrophy may present with a deceptively mild phenotype, even in adult males. Tight collaboration between clinicians, geneticists, biochemists, and other specialists is increasingly required for clarification of diagnosis in cases with atypical presentation.

Keywords: Adrenomyeloneuropathy; Parkinson's disease; X‐linked adrenoleukodystrophy; leukodystrophy; myelopathy; phenotype

References

  1. J Neurol Sci. 2010 Mar 15;290(1-2):70-4 - PubMed
  2. Hum Mutat. 2001 Dec;18(6):499-515 - PubMed
  3. Genet Med. 2015 May;17(5):405-24 - PubMed
  4. Neurology. 2014 May 13;82(19):1678-83 - PubMed
  5. Pediatr Neurol. 2013 Mar;48(3):212-9 - PubMed
  6. Dev Neurosci. 1991;13(4-5):254-61 - PubMed
  7. Brain. 2014 Mar;137(Pt 3):693-706 - PubMed
  8. Am J Med Genet. 1998 Apr 13;76(5):415-9 - PubMed
  9. Neurology. 1994 Dec;44(12):2343-6 - PubMed
  10. Acta Neurol Belg. 2015 Jun;115(2):91-5 - PubMed
  11. Orphanet J Rare Dis. 2012 Aug 13;7:51 - PubMed
  12. Neurology. 2014 Dec 9;83(24):2227-31 - PubMed
  13. Ann Neurol. 2001 Feb;49(2):186-94 - PubMed
  14. Clin Case Rep. 2015 Dec 21;4(2):177-81 - PubMed
  15. Curr Neurol Neurosci Rep. 2014 Oct;14(10):486 - PubMed
  16. Orphanet J Rare Dis. 2014 Jan 13;9:6 - PubMed
  17. J Neurol Neurosurg Psychiatry. 1997 Jul;63(1):4-14 - PubMed
  18. Blood. 2011 Aug 18;118(7):1971-8 - PubMed
  19. Neurology. 1983 Nov;33(11):1444-52 - PubMed
  20. Neurology. 2006 Aug 8;67(3):430-4 - PubMed

Publication Types