Peroxisomal leukoencephalopathy

Seminars in Neurology

Volumn 32, Issue 1, 2012, Pages 42-50

  Poll The, Bwee Tien ^a   Engelen, Marc ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

leukodystrophy; peroxisomal disorders; rhizomelic chondrodysplasia punctata; x linked adrenoleukodystrophy; Zellweger spectrum disorders

Indexed keywords

ACYL COENZYME A OXIDASE; ALPHA TOCOPHEROL; ANTICONVULSIVE AGENT; CHOLIC ACID; CORTICOSTEROID; DIHYDROXYACETONE PHOSPHATE ACYLTRANSFERASE; DOCOSAHEXAENOIC ACID; ETHER LIPID; LORENZO OIL; PHYTANIC ACID; PHYTOMENADIONE; RETINOL; VERY LONG CHAIN FATTY ACID;

ADRENOLEUKODYSTROPHY; ALPHA TOCOPHEROL DEFICIENCY; ARTICLE; BIOGENESIS; BONE MARROW TRANSPLANTATION; CALORIC INTAKE; CHONDRODYSPLASIA PUNCTATA; CORTICOSTEROID THERAPY; DIET THERAPY; DISEASE COURSE; DISORDERS OF PEROXISOMAL FUNCTIONS; DNA DETERMINATION; EPILEPSY; FATTY ACID OXIDATION; FIBROBLAST CULTURE; FLUID INTAKE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMISPHERE; HISTOPATHOLOGY; HORMONE SUBSTITUTION; HUMAN; LEUKOENCEPHALOPATHY; MYELINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PEROXISOMAL LEUKOENCEPHALOPATHY; PHENOTYPE; PHYSIOTHERAPY; PRIORITY JOURNAL; REFSUM DISEASE; RETINOL DEFICIENCY; STEM CELL GENE THERAPY; URINALYSIS; VITAMIN K DEFICIENCY; WHITE MATTER; ZELLWEGER SYNDROME;

ADRENOLEUKODYSTROPHY; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; FEMALE; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; PEROXISOMAL DISORDERS; ZELLWEGER SYNDROME;

EID: 84858115887     PISSN: 02718235     EISSN: 10989021     Source Type: Journal    
DOI: 10.1055/s-0032-1306385     Document Type: Article

References (27)

1. Gould SJ, Raymond GV, Valle D. The peroxisome biogenesis disorders. In: Scriver CR, Beaudet A, Sly WS, Valle D., eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York McGraw-Hill: 2001; 3181 3218
2. Wanders RJA, Barth PG, Heymans HSA. Single peroxisomal enzyme deficiencies. 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; 3219 3256
3. Barkovich AJ, Peck WW. MR of Zellweger syndrome. AJNR Am J Neuroradiol: 1997; 18 6 1163 1170 (Pubitemid 30412138)
4. Poll-The BT, Gootjes J, Duran M., et al. Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. Am J Med Genet A: 2004; 126A 4 333 338 (Pubitemid 38541801)
5. Barth PG, Majoie CBLM, Gootjes J., et al. Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival. Neurology: 2004; 62 3 439 444 (Pubitemid 38200857)
6. Barth PG, Gootjes J, Bode H, Vreken P, Majoie CBLM, Wanders RJA. Late onset white matter disease in peroxisome biogenesis disorder. Neurology: 2001; 57 11 1949 1955 (Pubitemid 33126857)
7. Poll-The BT, Roels F, Ogier H., et al. A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am J Hum Genet: 1988; 42 3 422 434
8. Watkins PA, McGuinness MC, Raymond GV., et al. Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies. Ann Neurol: 1995; 38 3 472 477
9. Ferdinandusse S, Denis S, Mooyer PAW., et al. Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol: 2006; 59 1 92 104 (Pubitemid 43042875)
10. Soorani-Lunsing RJ, van Spronsen FJ, Stolte-Dijkstra I., et al. Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall. J Inherit Metab Dis: 2005; 28 6 1172 1174 (Pubitemid 43168966)
11. Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy. Nat Clin Pract Neurol: 2007; 3 3 140 151 (Pubitemid 46403941)
12. Dubey P, Fatemi A, Huang HB., et al. Diffusion tensor-based imaging reveals occult abnormalities in adrenomyeloneuropathy. Ann Neurol: 2005; 58 5 758 766 (Pubitemid 41552551)
13. Moser HW, Smith KD, Watkins PA, Powers J, Moser AB. X-linked adrenoleukodystrophy. In: Scriver CR, Beaudet AL, Valle D, Sly WS., eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York McGraw-Hill: 2001; 3257 3302
14. White AL, Modaff P, Holland-Morris F, Pauli RM. Natural history of rhizomelic chondrodysplasia punctata. Am J Med Genet A: 2003; 118A 4 332 342 (Pubitemid 37069982)
15. Braverman N, Chen L, Lin P., et al. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Hum Mutat: 2002; 20 4 284 297
16. Smeitink JA, Beemer FA, Espeel M., et al. Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis. J Inherit Metab Dis: 1992; 15 3 377 380
17. Barth PG, Wanders RJ, Schutgens RB, Staalman CR. Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies. Am J Med Genet: 1996; 62 2 164 168
18. Wanders RJ. Metabolic and molecular basis of peroxisomal disorders: a review. Am J Med Genet A: 2004; 126A 4 355 375 (Pubitemid 38541804)
19. Powers JM, Kenjarski TP, Moser AB, Moser HW. Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells. Acta Neuropathol: 1999; 98 2 129 134 (Pubitemid 29355544)
20. Bams-Mengerink AM, Majoie CBLM, Duran M., et al. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. Neurology: 2006; 66 6 798 803, discussion 789 (Pubitemid 43739750)
21. Rosewich H, Waterham HR, Wanders RJ., et al. Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect. Neuropediatrics: 2006; 37 2 95 98 (Pubitemid 43980089)
22. Moser AB, Kreiter N, Bezman L., et al. Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol: 1999; 45 1 100 110 (Pubitemid 29036438)
23. Miller WP, Rothman SM, Nascene D., et al. Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report. Blood: 2011; 118 7 1971 1978
24. Aubourg P, Adamsbaum C, Lavallard-Rousseau MC., et al. A two-year trial of oleic and erucic acids ("Lorenzo's oilo") as treatment for adrenomyeloneuropathy. N Engl J Med: 1993; 329 11 745 752 (Pubitemid 23262528)
25. van Geel BM, Assies J, Haverkort EB., et al. Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil.o" J Neurol Neurosurg Psychiatry: 1999; 67 3 290 299 (Pubitemid 29392587)
26. Moser HW, Raymond GV, Lu SE., et al. Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil. Arch Neurol: 2005; 62 7 1073 1080 (Pubitemid 41043727)
27. Cartier N, Hacein-Bey-Abina S, Bartholomae CC., et al. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science: 2009; 326 5954 818 823