Revisão Acesso aberto

Adrenoleukodystrophy and related disorders

2001; Wiley; Volume: 7; Issue: 3 Linguagem: Inglês

10.1002/mrdd.1026

ISSN

1098-2779

Autores

Alan K. Percy, S. Lane Rutledge,

Tópico(s)

Adipose Tissue and Metabolism

Resumo

Mental Retardation and Developmental Disabilities Research ReviewsVolume 7, Issue 3 p. 179-189 Research Article Adrenoleukodystrophy and related disorders Alan K. Percy, Corresponding Author Alan K. Percy [email protected] Department of Pediatrics, Neurology, and Neurobiology, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama1600 7th Avenue South, Suite 516, Birmingham, AL 35233Search for more papers by this authorS. Lane Rutledge, S. Lane Rutledge Department of Pediatrics, Neurology, and Neurobiology, School of Medicine, University of Alabama at Birmingham, Birmingham, AlabamaSearch for more papers by this author Alan K. Percy, Corresponding Author Alan K. Percy [email protected] Department of Pediatrics, Neurology, and Neurobiology, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama1600 7th Avenue South, Suite 516, Birmingham, AL 35233Search for more papers by this authorS. Lane Rutledge, S. Lane Rutledge Department of Pediatrics, Neurology, and Neurobiology, School of Medicine, University of Alabama at Birmingham, Birmingham, AlabamaSearch for more papers by this author First published: 31 August 2001 https://doi.org/10.1002/mrdd.1026Citations: 11AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Aubourg P, Dubois-Dalcq M. 2000. X-linked adrenoleukodystrophy enigma: how does the ALD peroxisomal transporter mutation affect CNS glia? GLIA 29: 186–190. Aubourg P, Scotto J, Rocchiccioli F, et al. 1986. Neonatal adrenoleukodystrophy. J Neurol Neurosurg Psychiatry 49: 77–86. Aubourg P, Kremser K, Roland MO, et al. 1993. Pseudo infantile Refsum's disease: catalase-deficient peroxisomal particles with partial deficiency of plasmalogen synthesis and oxidation of fatty acids. Pediatr Res 34: 270–276. Barr DG, Kirk JM, al Howasi M, et al. 1993. Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. Arch Dis Child 68: 415–417. Bowen P, Lee CSN, Zellweger H, et al. 1964. A familial syndrome of multiple congenital defects. Bulletin Johns Hopkins Hospital 11: 402–467. Braverman N, Steel G, Obie C, et al. 1997. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet 15: 369–376. Braverman N, Dodt G, Gould SJ, et al. 1998. An isoform of Pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes. Hum Mol Genet 7: 1195–1205. Chang C-C, Lee W-H, Moser H, et al. 1997. Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders. Nat Genet 15: 385–388. Datta NS, Wilson GN, Hajra AK. 1984. Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes. NEJM 311: 1080–1083. Distel B, Erdmann R, Gould SJ, et al. 1996. A unified nomenclature for peroxisome biogenesis factors. J Cell Biol 135: 1–3. Dodd A, Rowland SA, Hawkes SL, et al. 1997. Mutations in the adrenoleukodystrophy gene. Hum Mutat 9: 500–511. Dodt G, Braverman N, Wong C, et al. 1995. Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nat Genet 9: 115–125. Edwin D, Speedie LJ, Kohler W, et al. 1996. Cognitive and brain magnetic resonance imaging findings in adrenomyeloneuropathy. Ann Neurol 40: 675–678. Elias ER, Mobassaleh M, Hajra AK, et al. 1998. Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency. Am J Med Genet 80: 223–226. Feigenbaum V, Lombard-Platet G, Guidoux S, et al. 1996. Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy. Am J Hum Genet 58: 1135–1144. Geisbrecht BV, Collins CS, Reuber BE, et al. 1998. Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. Proc Natl Acad Sci U S A 95: 8630–8635. Gibberd FB, Billimoria JD, Goldman JM, et al. 1985. Heredopathia atactica polyneuritiformis: Refsum's disease. Acta Neurol Scand 72: 1–17. Gloeckner CJ, Mayerhofer PU, Landgraf P, et al. 2000. Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. Biochem Biophys Res Commun 271: 144–150. Goldfischer S, Moore CL, Johnson AB, et al. 1973. Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science 182: 62–64. Goldfischer S, Collins J, Rapin I, et al. 1985. Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies. Science 227: 67–70. Govaerts L, Colon E, Rotteveel J, et al. 1985. A neurophysiological study of children with the cerebro-hepato-renal syndrome of Zellweger. Neuropediatrics 16: 185–190. Griffin DE, Moser HW, Mendoza Q, et al. 1985. Identification of the inflammatory cells in the central nervous system of patients with adrenoleukodystrophy. Ann Neurol 18: 660–664. Griffin JW, Goren E, Schaumburg H, et al. 1977. Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. I. Clinical and endocrinologic aspects. Neurology 27: 1107– 1113. Hebestreit H, Wanders RJ, Schutgens RB, et al. 1996. Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings. Eur J Pediatr 155: 1035–1039. Honsho M, Tamura S, Shimozawa N, et al. 1998. Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. Am J Hum Genet 63: 1622–1630. Huang Y, Ito R, Miura S, et al. 2000. A missense mutation in the RING finger motif of PEX2 protein disturbs the import of peroxisome targeting signal 1 (PTS1)-containing protein but not the PTS2-containing protein. Biochem Biophys Res Commun 270: 717–721. Jansen GA, Mihalik SJ, Watkins PA, et al. 1997a. Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. J Inherit Metab Dis 20: 444–446. Jansen GA, Ofman R, Ferdinandusse S, et al. 1997b. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet 17: 190–193. Kaplan PW, Kruse B, Tusa RJ, et al. 1995. Visual system abnormalities in adrenomyeloneuropathy. Ann Neurol 37: 550–552. Kerckaert I, Dingemans KP, Heymans HS, et al. 1988. Polarizing inclusions in some organs of children with congenital peroxisomal diseases (Zellweger's, Refsum's, chondrodysplasia punctata (rhizomelic form), X-linked adrenoleukodystrophy). J Inherit Metab Dis 11: 372–386. Kumar AJ, Kohler W, Kruse B, et al. 1995. MR findings in adult-onset adrenoleukodystrophy. AJNR Am J Neuroradiol 16: 1227–1237. Kyllerman M, Blomstrand S, Månsson JE, et al. 1990. Central nervous system malformations and white matter changes in pseudo-neonatal adrenoleukodystrophy. Neuropediatrics 21: 199–201. Lachtermacher MB, Seuanez HN, Moser AB, et al. 2000. Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. Hum Mutat 15: 348–353. Ligtenberg MJ, Kemp S, Sarde CO, et al. 1995. Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. Am J Hum Genet 56: 44–50. Malm G, Ringdén O, Anvret M, et al. 1997. Treatment of adrenoleukodystrophy with bone marrow transplantation. Acta Paediatrica 86: 484–492. Mandel H, Meiron D, Schutgens RB, et al. 1992. Infantile Refsum disease: gastrointestinal presentation of a peroxisomal disorder. J Pediatr Gastroenterol Nutr 14: 83–85. Maris T, Androulidakis EJ, Tzagournissakis M, et al. 1995. X-linked adrenoleukodystrophy presenting as neurologically pure familial spastic paraparesis. Neurology 45: 1101–1104. Martinez M, Vazquez E. 1998. MRI evidence that docosahexaenoic acid ethyl ester improves myelination in generalized peroxisomal disorders. Neurology 51: 26–32. McGuinness MC, Griffin DE, Raymond GV, et al. 1995. Tumor necrosis factor-alpha and X-linked adrenoleukodystrophy. J Neuroimmunol 61: 161–169. McGuinness MC, Powers JM, Bias WB, et al. 1997. Human leukocyte antigens and cytokine expression in cerebral inflammatory demyelinative lesions of X-linked adrenoleukodystrophy and multiple sclerosis. J Neuroimmunol 75: 174–182. Melhem ER, Loes DJ, Georgiades CS, et al. 2000. X-linked adrenoleukodystrophy: the role of contrast-enhanced MR imaging in predicting disease progression. AJNR Am J Neuroradiol 21: 839–844. Mihalik SJ, Morrell JC, Kim D, et al. 1997. Identification of PAHX, a Refsum disease gene. Nat Genet 17: 185–189. Monnens L, Bakkeren J, Parmentier G, et al. 1980. Disturbances in bile acid metabolism of infants with the Zellweger (cerebro-hepato-renal) syndrome. Eur J Pediatr 133: 31–35. Moser AB, Rasmussen M, Naidu S, et al. 1995. Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J Pediatr 127: 13–22. Moser AB, Kreiter N, Bezman L, et al. 1999. Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol 45: 100–110. Moser AE, Singh I, Brown FRD, et al. 1984a. The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. NEJM 310: 1141–1146. Moser H, Bezman L, Lu S, et al. 2000. Therapy of X-linked adrenoleukodystrophy: Prognosis based upon age and MRI abnormality and plans for placebo-controlled trials. J Inherit Metab Dis 23: 273–277. Moser HW. 1995. Clinical and therapeutic aspects of adrenoleukodystrophy and adrenomyeloneuropathy. J Neuropathol Exp Neurol 54: 740–745. Moser HW. 1997a. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 120: 1485–1508. Moser HW. 1997b. Genotype-phenotype correlations in peroxisomal disorders. Developmental Brain Dysfunction 10: 282–292. Moser HW, Borel J. 1995. Dietary management of X-linked adrenoleukodystrophy. Annu Rev Nutr 15: 379–397. Moser HW, Moser AE, Trojak JE, et al. 1983. Identification of female carriers of adrenoleukodystrophy. J Pediatr 103: 54–59. Moser HW, Moser AE, Singh I, et al. 1984b. Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy. Ann Neurol 16: 628–641. Motley AM, Hettema EH, Hogenhout EM, et al. 1997. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Nat Genet 15: 377–380. Pahan K, Khan M, Singh I. 1996. Phytanic acid oxidation: normal activation and transport yet defective alpha-hydroxylation of phytanic acid in peroxisomes from Refsum disease and rhizomelic chondrodysplasia punctata. J Lipid Res 37: 1137–1143. Pahan K, Sheikh FG, Namboodiri AM, et al. 1997. Lovastatin and phenylacetate inhibit the induction of nitric oxide synthase and cytokines in rat primary astrocytes, microglia, and macrophages. J Clin Invest 100: 2671–2679. Pai GS, Khan M, Barbosa E, et al. 2000. Lovastatin therapy for X-linked adrenoleukodystrophy: clinical and biochemical observations on 12 patients. Mol Genet Metab 69: 312–322. Poggi-Travert F, Fournier B, Poll-The BT, et al. 1995. Clinical approach to inherited peroxisomal disorders. J Inherit Metab Dis 18 Suppl 1: 1–18. Poll-The BT, Roels F, Ogier H, et al. 1988. A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am J Hum Genet 42: 422–434. Pouwels PJW, Kruse B, Korenke GC, et al. 1998. Quantitative Proton Magnetic Resonance Spectroscopy of Childhood Adrenoleukodystrophy. Neuropediatrics 29: 254–264. Powers JM, Schaumberg HH. 1974. Adreno-leukodystrophy. Similar ultrastructural changes in adrenal cortical and Schwann cells. Arch Neurol 30: 406–408. Powers JM, DeCiero DP, Ito M, et al. 2000. Adrenomyeloneuropathy: a neuropathologic review featuring its noninflammatory myelopathy. J Neuropathol Exp Neurol 59: 89–102. Purdue PE, Zhang JW, Skoneczny M, et al. 1997. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nat Genet 15: 381–384. Rajanayagam V, Grad J, Krivit W, et al. 1996. Proton MR spectroscopy of childhood adrenoleukodystrophy. AJNR Am J Neuroradiol 17: 1013–1024. Restuccia D, Lazzaro VD, Valeriani M, et al. 1999. Neurophysiologic follow-up of long-term dietary treatment in adult-onset adrenoleukodystrophy. Neurology 52: 810–816. Roels F, Cornelis A, Poll-The BT, et al. 1986. Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases. Am J Med Genet 25: 257–271. Schaumburg HH, Powers JM, Raine CS, et al. 1975. Adrenoleukodystrophy. A clinical and pathological study of 17 cases. Arch Neurol 32: 577–591. Schram AW, Goldfischer S, van Roermund CW, et al. 1987. Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. Proc Natl Acad Sci U S A 84: 2494–2496. Singh I, Moser AE, Goldfischer S, et al. 1984a. Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy. ProcNatl Acad Sci U S A 81: 4203–4207. Singh I, Moser AE, Moser HW, et al. 1984b. Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes. Pediatr Res 18: 286–290. Singh I, Pahan K, Singh AK, et al. 1993. Refsum disease: a defect in the alpha-oxidation of phytanic acid in peroxisomes. J Lipid Res 34: 1755–1764. Skjeldal OH, Nyberg-Hansen R, Stokke O. 1988. Neurological disorders and phytanic acid metabolism. Acta Neurol Scand 78: 324–328. Smith A. 1999. Gene therapy: where are we? Lancet 354 Suppl: SI 1-4. Takano H, Koike R, Onodera S, et al. 1999. Mutational Analysis and Genotype-Phenotype Correlation of 29 Unrelated Japanese Patients with X-linked Adrenoleukodystrophy. Arch Neurol 56: 295–300. van Grunsven EG, van Berkel E, Mooijer PA, et al. 1999. Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. Am J Hum Genet 64: 99–107. Wanders RJ, Boltshauser E, Steinmann B, et al. 1990. Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report. J Neurol Sci 8: 1–11. Wanders RJ, Dekker C, Hovarth VA, et al. 1994. Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder. J Inherit Metab Dis 17: 315–318. Wanders RJ, Schutgens RB, Barth PG. 1995. Peroxisomal disorders: a review. J Neuropathol Exp Neurol 54: 726–739. Wanders RJA. 1999. Peroxisomal disorders: clinical, biochemical, and molecular aspects. Neurochem Res 24: 565–580. Warren DS, Morrell JC, Moser HW, et al. 1998. Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. Am J Hum Genet 63: 347–359. Wei H, Kemp S, McGuinness MC, et al. 2000. Pharmacological induction of peroxisomes in peroxisome biogenesis disorders [see comments]. Ann Neurol 47: 286–296. Yahraus T, Braverman N, Dodt G, et al. 1996. The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. EMBO J 15: 2914–2923. Yamada T, Taniwaki T, Shinnoh N, et al. 1999. Adrenoleukodystrophy protein enhances association of very long-chain acyl-coenzyme A synthetase with the peroxisome. Neurology 52: 614–616. Zhang Z, Suzuki Y, Shimozawa N, et al. 1999a. Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders. Hum Mutat 13: 487–496. Zhang Z, Suzuki Y, Shimozawa N, et al. 1999b. Prenatal diagnosis of peroxisome biogenesis disorders by means of immunofluorescence staining of cultured chorionic villous cells [letter]. Clin Genet 56: 467–468. Citing Literature Volume7, Issue3Special Issue: Progressive Neurological DisordersAugust 2001Pages 179-189 ReferencesRelatedInformation

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