Leukoencephalopathy in adults: Is it adrenoleukodystrophy? A case report and molecular analysis

Journal of the Neurological Sciences

Volumn 285, Issue 1-2, 2009, Pages 235-237

  Dohle, Carolin I ^a   Bannykh, Serguei I ^b   Hisama, Fuki M ^c   Baehring, Joachim M ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CEDARS SINAI MEDICAL CENTER   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Adrenoleukodystrophy; Adult onset; Cerebral; Leukoencephalopathy; Nonsense mutation; Very long chain fatty acids

Indexed keywords

CYCLOPHOSPHAMIDE; METHYLPREDNISOLONE;

ADRENOLEUKODYSTROPHY; ADULT; ANAMNESIS; ARTICLE; BRAIN BIOPSY; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; FATALITY; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; LEUKOENCEPHALOPATHY; MALE; MULTIPLE CYCLE TREATMENT; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; ONSET AGE; PRIORITY JOURNAL; SEIZURE;

ADRENOLEUKODYSTROPHY; ADULT; ATP-BINDING CASSETTE TRANSPORTERS; BRAIN; CODON, NONSENSE; COGNITION DISORDERS; DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; PEDIGREE; SPINAL CORD;

EID: 69549091692     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2009.06.012     Document Type: Article

References (15)

1. Migeon B.R., Moser H.W., Moser A.B., Axelman J., Sillence D., and Norum R.A. Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proc Natl Acad Sci U S A 78 8 (Aug 1981) 5066-5070
2. Liu L.X., Janvier K., Berteaux-Lecellier V., Cartier N., Benarous R., and Aubourg P. Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. J Biol Chem 274 46 (Nov 12 1999) 32738-32743
3. Lazo O., Contreras M., Bhushan A., Stanley W., and Singh I. Adrenoleukodystrophy: impaired oxidation of fatty acids due to peroxisomal lignoceroyl-CoA ligase deficiency. Arch Biochem Biophys 270 2 (May 1 1989) 722-728
4. Moser H.W., Moser A.B., Frayer K.K., Winston C., Shulman J.D., O'Neill B.P., et al. Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids. Neurology 31 10 (Oct 1981) 1241-1249
5. Matsumoto T., Tsuru A., Amamoto N., Shimizu T., Kondoh T., Saitoh N., et al. Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy. J Hum Genet 48 3 (2003) 125-129
6. Moser H.W. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 120 Pt 8 (Aug 1997) 1485-1508
7. Van Geel B.M., Assies J., Wanders R.J., and Barth P.G. X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy. J Neurol Neurosurg Psychiatry 63 1 (Jul 1997) 4-14
8. Dubey P., Raymond G.V., Moser A.B., Kharkar S., Bezman L., and Moser H.W. Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening. J Pediatr 146 4 (Apr 2005) 528-532
9. Luda E., and Barisone M.G. Adult-onset adrenoleukodystrophy: a clinical and neuropsychological study. Neurol Sci 22 1 (Feb 2001) 21-25
10. Kumar A.J., Kohler W., Kruse B., Naidu S., Bergin A., Edwin D., et al. MR findings in adult-onset adrenoleukodystrophy. AJNR Am J Neuroradiol 16 6 (Jun-Jul 1995) 1227-1237
11. Šutovský S., Petrovič R., Chandoga J., and Turčáni P. Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene. J Neurol Sci 263 1-2 (Dec 15 2007) 149-153
12. Kano S., Watanabe M., Kanai M., Koike R., Onodera O., Tsuji S., et al. A Japanese family with adrenoleukodystrophy with a codon 291 deletion: a clinical, biochemical, pathological, and genetic report. J Neurol Sci 158 2 (Jun 30 1998) 187-192
13. Moser A.B., Kreiter N., Bezman L., Lu S., Raymond G.V., Naidu S., and Moser H.W. Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol 45 1 (Jan 1999) 100-110
14. 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 3 (Aug 1 2004) 881-888
15. 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 7 (2005) 1073-1080