Summary
Fatty acids of plasma and erythrocyte membrane sphingomyelin were determined by gas chromatography-mass spectrometry in adrenoleukodystrophy (ALD) without adrenal insufficiency. Mass chromatogram tracing with the ion at m/z 143 [(CH2)6 COOH3]+ showed increases of saturated very long chain fatty acids in plasma and erythrocyte membrane sphingomyelin in ALD. The C26:0/C22:0 ratios in plasma were 0.121, 0.057 and 0.007 in cases 1 and 2, and a control subject, respectively. The C26:0/C22:0 ratios in erythrocyte membrane sphingomyelin were 0.386, 0.211 and 0.093 in cases 1 and 2 and the control subject, respectively. The demyelinating process of ALD was clearly observed in both the inversion recovery 2100/500 and spin echo 2100/80 scans on magnetic resonance imaging. The magnetic resonance image in case 1 revealed widespread demyelinated lesions, involving almost the entire cerebrum and cerebellum, at 4 years after the onset, while that in case 2 revealed demyelinated lesions mainly limited to parieto-occipital areas at 1 year after the onset.
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Antoku Y, Sakai T, Goto I, Iwashita H, Kuroiwa Y (1984) Adrenoleukodystrophy abnormality of very long-chain fatty acids in erythrocyte membrane phospholipids. Neurology (NY) 34:1499–1501
Aubourg P, Diebler C (1982) Adrenoleukodystrophy—its diverse CT appearances and an evolutive or phenotype variant. Neuroradiology 24:33–42
Bydder GM, Steiner RE, Young IR, Hall AS, Thomas DJ, Marshall J, Pallis CA, Legg NJ (1982) Clinical NMR imaging of the brain: 140 cases. AJR 139:215–236
Doyle FH, Gore JC, Pennock JM, Bydder GM, Orr JS, Steiner RE, Young IR, Burl M, Clow H, Gilderdale DJ, Bailes DR, Walters PE (1981) Imaging of the brain by nuclear magnetic resonance. Lancet II:53–57
Folch J, Lees M, Stanley GHS (1957) A simple method for the isolation and purification of total lipids from animal tissues. J Biol Chem 226:497–509
Gooding CA, Brasch RC, Lallemand DP, Wesbey GE, Brant-Zawadzki MN (1984) Nuclear magnetic resonance imaging of the brain in children. J Pediatr 104:509–515
Greenberg HS, Halverson D, Lane B (1977) CT scanning and diagnosis of adrenoleukodystrophy. Neurology (Minneap) 27:884–886
Igarashi M, Schaumburg HH, Powers J, Kishimoto Y, Kolonday E, Suzuki K (1976) Fatty acid abnormality in adrenoleukodystrophy. J Neurochem 26:851–860
Kawamura N, Moser AB, Moser HW, Ogino T, Suzuki K, Schaumberg H, Milunsky A, Murphy J, Kishimoto Y (1978) High concentration of hexacosanate in cultured skin fibroblast lipids from adrenoleukodystrophy patients. Biochem Biophys Res Commun 82:114–120
Kishimoto Y, Moser HW, Kawamura N, Platt M, Pallante SL, Fenselau C (1980) Adrenoleukodystrophy: evidence that abnormal very long chain fatty acids of brain cholesterol esters are of exogenous origin. Biochem Biophys Res Commun 96:69–76
Lavine MI, Whitelaw A, Dubowitz V, Bydder GM, Steiner RE, Randell CP, Young IR (1982) Nuclear magnetic resonance imaging of the brain in children. Br Med J 285:774–776
Marler JR, O'Neill BP, Forbes GS, Moser HW (1983) Adrenoleukodystrophy (ALD): clinical and CT features of a childhood variant. Neurology (NY) 33:1203–1205
Moser HW, Moser AB, Kawamura N, Migeon B, O'Neill BP, Kishimoto Y (1980) Adrenoleukodystrophy: studies of the phenotype, genetics and biochemistry. Johns Hopkins Med J 147:217–224
Moser HW, Moser AB, Kawamura N, Murphy J, Suzuki K, Schaumburg H, Kishimoto Y (1980) Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts. Ann Neurol 7:542–549
Moser HW, Moser AB, Frayer KK, Chen W, Shulman JD, O'Neil BP, Kishimoto Y (1981) Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids. Neurology (NY) 31:1241–1249
Ohno T, Tsuchida H, Fukuhara N, Yuasa T, Harayama H, Tsuji S, Miyatake T (1984) Adrenoleukodystrophy: a clinical variant presenting as olivopontocerebellar atrophy. J Neurol 231:167–169
O'Neill BP, Moser HW, Saxena KM, Marmion LC (1984) Adrenoleukodystrophy: clinical and biochemical manifestations in carriers. Neurology (NY) 34:798–801
Rizzo WB, Avigan J, Chemke J, Schulman JD (1984) Adrenoleukodystrophy: very long-chain fatty acid metabolism in fibroblasts. Neurology (NY) 34:163–169
Rose HG, Oklander M (1965) Improved procedure for extraction of lipids from human erythrocytes. J Lipid Res 6:428–431
Schaumburg HH, Powers JM, Raine CS, Suzuki K, Richardson EP (1975) Adrenoleukodystrophy: a clinical and pathological study of 17 cases. Arch Neurol 32:577–591
Singh I, Moser AE, Goldfischer S, Moser HW (1984) Lignoceric acid is oxidized in the perioxysome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy. Proc Natl Acad Sci USA 81:4203–4207
Singh I, Moser AE, Moser HW, Kishimoto Y (1984) Adrenoleukodistrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes. Pediatr Res 18:286–290
Tsuji S, Suzuki M, Ariga T, Sekine M, Kuriyama M, Miyatake T (1981) Abnormality of long-chain fatty acids in erythrocyte membrane sphingomyelin from patients with adrenoleukodystrophy. J Neurochem 36:1046–1049
Young IR, Hall AS, Pallis CA, Legg NJ, Bydder GM, Steiner RE (1981) Nuclear magnetic resonance imaging of the brain in multiple sclerosis. Lancet II:1063–1066
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Nishio, H., Kodama, S., Tsubota, T. et al. Adrenoleukodystrophy without adrenal insufficiency and its magnetic resonance imaging. J Neurol 232, 265–270 (1985). https://doi.org/10.1007/BF00313862
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DOI: https://doi.org/10.1007/BF00313862