Skip to main content
Log in

Familial adrenoleukodystrophy: long chain fatty acid levels and analysis with a factor VIII DNA probe

  • Short Communications
  • Published:
Journal of Neurology Aims and scope Submit manuscript

Summary

Segregation studies of X-linked adrenoleukodystrophy (ALD) and a cloned desoxyribonucleic fragment (factor VIII gene), which detects polymorphism in the distal end of the long arm of the X chromosome (Xq28), are reported in a large sibship ALD family. The findings should permit better identification of carriers and add a new marker for identifying the ALD gene itself.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  1. Antonorakis SE, Waber PG, Kittur SD, Patel AS, Kazazian HH, Mellis MA, Counts RB, Stamatoyannopoulos G, Bowie EJW, Fass DN, Pittmann DD, Wozney JM, Toole JJ (1985) Haemophilia A: molecular defects and carrier detection by DNA analysis. N Engl J Med 313:842–853

    Google Scholar 

  2. Aubourg MD, Sack GH, Meyers RA, Lease JJ, Moser HW (1987) Linkage of adrenoleukodystrophy to a polymorphic DNA probe. Ann Neurol 21:349–352

    Google Scholar 

  3. Boué J, Oberlé I, Heilig R, Mandel JL, Moser A, Moser H, Larsen JW, Dumez Y, Boué A (1985) First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acids levels and by linkage analysis to a DNA probe. Hum Genet 69:272–274

    Google Scholar 

  4. Migeon BR, Moser HW, Moser AB, Axelman J, Sillence D, Norum RA (1981) Adrenoleukodystrophy: evidence of X-linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proc Natl Acad Sci USA 78:5066–5070

    Google Scholar 

  5. Moser HW, Moser AB, Trojak JE, Supplee SW (1983) Identification of female of adrenoleukodystrophy. J Pediatr 103:54–59

    Google Scholar 

  6. Singh I, Moser AB, Moser HW, Kishimoto Y (1984) Adrenoleukodystrophy impaired oxidation of very long fatty acids in white blood cells, cultured skin fibroblasts and amniocytes. Pediatr Res 18:286–290

    Google Scholar 

  7. Turpin JC, Paturneau-Jonas M, Serini C, Plutot M, Baumann N (1985) Révélation à l' âge adulte d'un cas d'adrénoleucodystrophie familiale. Rev Neurol (Paris) 141:289–295

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Berriche, S., Turpin, J.C. & Lucotte, G. Familial adrenoleukodystrophy: long chain fatty acid levels and analysis with a factor VIII DNA probe. J Neurol 235, 234–235 (1988). https://doi.org/10.1007/BF00314353

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00314353

Key words

Navigation