X-LINKED ADRENOLEUKODYSTROPHY: DIAGNOSIS, PATHOGENESIS AND PRENATAL DIAGNOSIS
Grkovic S1, Nikolic R2, Ðorgjevic M1, Živancevic-Simonovic S3, Ðordjevic-Denic G4, Kecman B1, Puzigaca Z2
*Corresponding Author: : Dr. Sanja Grkovic, Department of Pediatrics, Mother and Child Health Care Institute of Serbia, Ljeska 55, 11030 Belgrade, Serbia and Montenegro; Tel.: +38-1641548175; Fax: +38-113108276; E-mail: metlab@sezampro.yu
page: 27

REFERENCES

1. Moser W, Smith D, Watkins A, Powers J, Moser B. X-linked adrenoleukodystrophy. In Scriver CR, Beaudet AL, Sly WS, Valle D, Eds. The Metabolic and Molecular Bases of Inherited Disease, 8th ed. New York: McGraw-Hill. 2001; 325-3301.

      2. Shapiro E, Krivit W, Lockman L, Jambaque I, Peters C, Cowan M, Harris R, Blanche S, Bordigoni P, Loes D. Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodys­trophy. Lancet 2000; 356(9231): 713-718.

      3. Singh I, Pahan K, Khan M. Lovastatin and sodium phenylacetate normalize the levels of very long chain fatty acids in skin fibroblasts of X-adrenoleukodystrophy. FEBS Lett 1998; 426(3): 342-346.

      4. Pai S, Khan M, Barbosa E, Key L, Craver R, Cure K, Betros R, Singh I. Lovastatin therapy for X-linked adre­noleukodystrophy: clinical and biochemical observations on 12 patients. Mol Gen Metab 2000; 69(4): 312-322.

      5. Sarde O, Mosser J, Kioschis P. Genomic organiza­tion of the adrenoleukodistrophy gene. Genomics 1993; 22(1): 13-20.

      6. Kobayashi T, Yamada T, Yasutake T. Adrenoleuco­dystrophy gene encodes 80 kDa membrane protein. Bio­chem Biophys Res Commun 1994; 201(2): 1029-1034.

      7. Watkins A, Gould J, Smith A. Altered expression of ALDP in X-linked adrenoleukodystrophy. Am J Hum Genet 1995; 57(2):292-301.

      8. Moser W, Moser B, Kawamura N. Adrenoleukodys­trophy: elevated C26 fatty acid in cultured skin fibroblasts. Ann Neurol 1980; 7(6): 542-549.

      9. Moser W, Moser B, Frayer K. Adrenoleuko­dys­trophy: increased plasma content of saturated very long chain fatty acids. Neurology 1981; 31(10): 1241-1246.

      10. Whitcomb W, Linehan M, Wahl M, Knazek A. Monocytes stimulate cortisol production by cultured hu­man adrenocortical cells. J Clin End Metab 1988; 66(2): 33-38.

      11. Powers M, Liu Y, Moser A, Moser H. The inflam­matory myelinopathy of adreno-leukodystrophy: cells, effector molecules and pathogenetic implications. J Neuro­pathol Exp Neurol 1992; 51(6): 630-643.

      12. Moser W, Moser B, Smith D, Bergin A, Borel J, Shankroff J, Stine C, Merette C, Ott J, Krivit W, Shapiro E. Phenotypic variability:implications for therapy. J Inher Metab Dis 1992; 15(4): 645-664.

      13. Powers M. Adreno-leukodystrophy (adreno-testiculo-leukomyelo-neuropathic-complex). Clin Neuro­pathol 1985; 4(5): 181-199.

      14. Boles J, Craft A, Padgett A, Loria M, Rizzo B. Clinical variation in X-linked adrenoleukodystrophy: fatty acid and lipid metabolism in cultured fibroblasts. Biochem Med Metab Bio 1991; 45(1): 74-91.

      15. Kok F, Neumann S, Sarde O. Mutational analysis of patients with X-linked adrenoleukodystrophy. Hum Mutat 1995; 6(2):104-115.

      16. Moser H, Dubey P, Fatemi A. Progress in X-linked adrenoleukodystrophy. Curr Opin Neurol 2004; 17(3): 263-269.

      17. Smith D, Sack G, Beaty T. A genetic basis for the multiple phenotypes of X-linked adrenoleukodystrophy. Am J Hum Genet 1991; 49(3): 165-168.

      18. Maestri E, Beaty H. Predictions of a 2-locus model for disease heterogeneity: applications to adrenoleuleuko­dystrophy. Am J Hum Genet 1992; 44(5): 576-582.

 

 

1 Department of Pediatrics, Mother and Child Health Care Institute of Serbia, Belgrade, Serbia and Montenegro

        2 Department of Gynecology, Mother and Child Health Care Institute of Serbia, Belgrade, Serbia and Montenegro

        3 Institute of Pathological Phisyology, Medical Faculty Kragujevac, Kragujevac, Serbia

        4 Institute of Pathological Phisyology, Medical Faculty Belgrade, Belgrade, Serbia

 




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