X-linked adrenoleukodystrophy: Diagnostic and follow-up system in Japan

Journal of Human Genetics

Volumn 56, Issue 2, 2011, Pages 106-109

  Shimozawa, Nobuyuki ^a   Honda, Ayako ^a   Kajiwara, Naomi ^a   Kozawa, Sachi ^a   Nagase, Tomoko ^a   Takemoto, Yasuhiko ^a   Suzuki, Yasuyuki ^b  

^a GIFU UNIVERSITY   (Japan)

^b GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

adrenoleukodystrophy; diagnostic system; long term follow up; presymptomatic diagnosis; very long chain fatty acids

Indexed keywords

AMINO ACID; SATURATED FATTY ACID; VERY LONG CHAIN FATTY ACID;

ABCD1 GENE; ADRENOLEUKODYSTROPHY; CHILDHOOD ADRENOLEUKODYSTROPHY; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; FOLLOW UP; FRAMESHIFT MUTATION; GENE; GENETIC COUNSELING; GENETIC SCREENING; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; INTERVENTION STUDY; JAPAN; NONSENSE MUTATION; REVIEW; X CHROMOSOME LINKED DISORDER;

ADRENOLEUKODYSTROPHY; DNA MUTATIONAL ANALYSIS; FOLLOW-UP STUDIES; GENETIC COUNSELING; GENETIC DISEASES, X-LINKED; GENETIC TESTING; HUMANS; JAPAN; MUTATION; MUTATION, MISSENSE; PHENOTYPE;

EID: 79952127450     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.139     Document Type: Review

References (11)

1. Moser, H. W., Smith, K. D., Watkins, P. A., Powers, J. & Moser, A. B. X-linked adrenoleukodystrophy. in The Metabolic and Molecular Basis of Inherited Disease (eds Scriver, C. R., Beaudet, A. L., Sly, W. S., & Valle, D.) 3257-3301 (McGraw-Hill, New York, 2001).
2. Peters, C., Charnas, L. R., Tan, Y., Ziegler, R. S., Shapiro, E. G., DeFor, T. et al. Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood 104, 881-888 (2004). (Pubitemid 38970588)
3. Takemoto, Y., Suzuki, Y., Horibe, R., Shimozawa, N., Wanders, R. J. & Kondo, N. Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders. Brain Dev. 25, 481-487 (2003). (Pubitemid 37485654)
4. Moser, A. B., Kreiter, N., Bezman, L., Lu, S., Raymond, G. V., Naidu, S. et al. Plasma very long chain fatty acids in 3000 peroxisome disease patients and 29000 controls. Ann. Neurol. 45, 100-110 (1999). (Pubitemid 29036438)
5. Boehm, C. D., Cutting, G. R., Lachtermacher, M. B., Moser, H. W. & Chong, S. S. Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy. Mol. Genet. Metab. 66, 128-136 (1999). (Pubitemid 29390218)
6. Hubbard, W. C., Moser, A. B., Liu, A. C., Jones, R. O., Steinberg, S. J., Lorey, F. et al. Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Mol. Genet. Metab. 97, 212-220 (2009).
7. Moser, H. W., Raymond, G. V., Lu, S. E., Muenz, L. R., Moser, A. B., Xu, J. et al. Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil. Arch. Neurol. 62, 1073-1080 (2005). (Pubitemid 41043727)
8. Dubey, P., Raymond, G. V., Moser, A. B., Kharkar, S., Bezman, L. & Moser, H. W. Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening. J. Pediatr. 146, 528-532 (2005). (Pubitemid 40469718)
9. Takemoto, Y., Suzuki, Y., Tamakoshi, A., Onodera, O., Tsuji, S., Hashimoto, T. et al. Epidemiology of X-linked adrenoleukodystrophy in Japan. J. Hum. Genet. 47, 590-593 (2002). (Pubitemid 36083259)
10. Suzuki, Y., Takemoto, Y., Shimozawa, N., Imanaka, T., Kato, S., Furuya, H. et al. Natural history of X-linked adrenoleukodystrophy in Japan. Brain Dev. 27, 353-357 (2005). (Pubitemid 40991756)
11. Cartier, N., Hacein-Bey-Abina, S., Bartholomae, C. C., Veres, G., Schmidt, M., Kutschera, I. et al. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science 326, 818-823 (2009).