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45 Luciano CA, Russell JW, Banerjee TK, et al Physiological characterization of neuropathy in Fabry s disease Muscle Nerve 2002;26(5):622 629 46 Hilz MJ, Brys M, Marthol H, Stemper B, Dutsch M Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve bers in Fabry neuropathy Neurology 2004;62(7):1066 72 47 Schiffmann R, Floeter MK, Dambrosia JM, et al Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease Muscle Nerve 2003;28(6):703 710 48 Aubourg P, Scotto J, Rocchiccioli F, et al Neonatal adrenoleukodystrophy J Neurol Neurosurg Psychiatry 1986;49:77 86 49 Grif n JW, Goren E, Schaumburg H, et al Adrenomyeloneuropathy: A probable variant of adrenoleukodystrophy Neurology 1977;27:1107 1113 50 Martin J-J, Lowenthal A, Ceuterick C, et al Adrenomyeloneuropathy: A report on two families J Neurol 1982;226:221 232 51 Moser HW Adrenoleukodystrophy: Phenotype, genetics, pathophysiology, and therapy Brain 1997;120:1485 1508 52 Vercruyssen A, Martin JJ, Mercelis R Neurophysiologic studies in adrenomyeloneuropathy: A report of ve cases J Neurol Sci 1982;56:327 336 53 van Geel BM, Assies J, Wanders RJA, Barth PG X linked adrenoleukodystrophy: Clinical presentation, diagnosis, and therapy J Neurol Neurosurg Psychiatry 1997;63(1):4 14 54 Moser H, Dubey P, Fatemi A Progress in X-linked adrenoleukodystrophy Curr Opin Neurol 2004;17(3):263 269 55 Chaudhry V, Moser HW, Cornblath DR Nerve conduction studies in adrenomyeloneuropathy J Neurol Neurosurg Psychiatry 1996;61(2):181 185 56 Moser AB, Kreiter N, Bezman L, et al Plasma very long chain fatty acids in 3000 peroxisomal disease patients and 29000 controls Ann Neurol 1999;45:100 110 57 Toi K, Mamoli B, Waldhauser F A combination of spastic paraparesis, polyneuropathy and adrenocortical insuf ciency a childhood form of adrenomyeloneuropathy J Neurol 1981;225:47 55 58 van Geel BM, Koelman JH, Barth PG, Ongerboer de Visser BW Peripheral nerve abnormalities in adrenomyeloneuropathy: A clinical and electrodiagnostic study Neurology 1996;46(1):112 118 59 Powers JM, DeCiero DP, Cox C, et al The dorsal root ganglia in adrenomyeloneuropathy: Neuronal atrophy and abnormal mitochondria J Neuropathol Exp Neurol 2001;60(5):493 501 60 Baumgartner MR, Poll-The BT, Verhoeven NM, et al Clinical approach to inherited peroxisomal disorders Ann Neurol 1998;44:720 730 61 Poulos A, Gibson R, Sharp P, Beckman K, Grattan-Smith P Very long chain fatty acids in X-linked adrenoleukodystrophy brain after treatment with Lorenzo s oil Ann Neurol 1994;36:741 746 62 Aubourg P, Adamsbaum C, Lavallard-Rousseau MC, et al A two year trial of oleic acid and erucic acids (Lorenzo s oil) as treatment for adrenomyeloneuropathy N Engl J Med 1993;329:745 752
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SECTION II
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SPECIFIC DISORDERS 81 Pollock M, Nukada H, Frith RW, et al Peripheral neuropathy in Tangier disease Brain 1983;106:911 928 82 Hager H, Zimmermann P Licht- und electronenmikroskopische sowie cytometrische untersuchungern an peripheren nerven bei morbus Tangier Acta Neuropathol (Berl) 1979;45:53 59 83 Zuchner S, Sperfeld AD, Senderek J, Sellhaus B, Hanemann CO, Schroder JM A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease [erratum appears in Brain 2003 Sep;126(Pt 9):2115] Brain 2003;126(Pt 4):920 927 84 Bodzioch M, Orso E, Klucken J, et al The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease Nat Genet 1999;22:347 351 85 Rust S, Rosier M, Funke H, et al Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1 Nat Genet 1999;22:352 355 86 Argov Z, Soffer D, Eisenberg S, et al Chronic demyelinating peripheral neuropathy in cerebrotendinous xanthomatosis Ann Neurol 1986;20:89 91 87 Berginer VM, Salen G, Shefer S Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid 1984;311:1649 1653 88 Donaghy M, King RHM, McKeran RO, et al Cerebrotendinous xanthomatosis: Clinical, electrophysiological and nerve biopsy ndings, and response to treatment with chenodeoxycholic acid J Neurol 1990;237:216 219 89 Katz DA, Scheinberg L, Horoupian DS, et al Peripheral neuropathy in cerebrotendinous xanthomatosis Arch Neurol 1985;42:1008 1010 90 Ohnishi A, Yamashita Y, Goto I, et al De- and remyelination and onion bulb in cerebrotendinous xanthomatosis Acta Neuropathol (Berl) 1979;45:43 45 91 Philippart M, van Bogaert L Cholestanolosis (cerebrotendinous xanthomatosis) Arch Neurol 1969;21:603 610 92 Salen G, Berginer B, Shore V, et al Increased concentrations of cholestanol and apolipoprotein B in the cerebrospinal uid of patients with cerebrotendinous xanthomatosis N Engl J Med 1987;316:1233 1238 93 Kuritzky A, Berginer VM, Korczyn AD Peripheral neuropathy in cerebrotendinous xanthomatosis Neurology 1979;29:880 881 94 Leitersdorf E, Safadi R, Meiner V, et al Cerebrotendinous xanthomatosis in the Israeli Druze: Molecular genetics and phenotype characteristics Am J Hum Genet 1994;55:907 915 95 Ackroyd RS, Finnegan JA, Green SH Friedreich s ataxia Arch Dis Child 1984;59:217 221 96 Caruso G, Santoro L, Perretti A, et al Friedreich s ataxia: Electrophysiological and histologic ndings in patients and relatives Muscle Nerve 1987;10:503 515 97 Cruz Martinez A, Anciones B, Palau F GAA trinucleotide repeat expansion in variant Friedreich s ataxia families Muscle Nerve 1997;20:1121 1126 98 Dunn H Nerve conduction studies in children with Friedreich s ataxia and ataxia telangiectasia Dev Med Child Neurol 1973;15:324 337 99 Harding AE Friedreich s ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features Brain 1981;104:589 620
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63 Van Geel B Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic Xlinked adrenoleukodystrophy despite treatment with Lorenzo s oil J Neurol Neurosurg Psychiatry 1999;67: 290 299 64 Eldjarn L, Try K, Stokke O, et al Dietary effects on serum-phytanic acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis Lancet 1966;1: 691 693 65 Gibberd FB, Billimoria JD, Page NGR, et al Heredopathia atactica polyneuritiformis (Refsum s disease) treated by diet and plasma exchange Lancet 1979;1:575 578 66 Refsum S Heredopathia atactica polyneuritiformis: Phytanic acid storage disease, Refsum s disease: A biochemically well-de ned disease with speci c dietary treatment Arch Neurol 1981;38:605 606 67 Steinberg D, MIze CE, Herndon JH, et al Phytanic acid in patients with Refsum s syndrome and response to dietary treatment Arch Intern Med 1970;125:75 87 68 Tuck RR, McLeod JG Retinitis pigmentosa, ataxia, and peripheral neuropathy J Neurol Neurosurg Psychiatry 1983;46:206 213 69 Verny C, Prundean A, Nicolas G, et al Refsum s disease may mimic familial Guillain Barre syndrome Neuromuscul Disord 2006;16(11):805 808 70 Jansen GA, Waterham HR, Wanders RJ Molecular basis of Refsum disease: Sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7) Hum Mol Genet 2004;23(3):209 218 71 Jansen GA, Ofman R, Ferndinandusse S, et al Refsum s disease is caused by mutations in the phytanoyl-CoA hydroxylase gene Nat Genet 1997;17:190 193 72 Wierzbicki AS, Lloyd MD, Scho eld CJ, Feher MD, Gibberd FB Refsum s disease: A peroxisomal disorder affecting phytanic acid alpha-oxidation J Neurochem 2002;80(5):727 735 73 Jansen GA, Hogenhout EM, Ferdinandusse S, et al Human phytanoyl-CoA hydroxylase: Resolution of the gene structure and the molecular basis of Refsum s disease Hum Mol Genet 2000;9(8):1195 1200 74 van den Brink DM, Brites P, Haasjes J, et al Identi cation of PEX7 as the second gene involved in Refsum disease Am J Hum Genet 2003;72(2):471 477 75 Dyck PJ, Ellefson RD, Yao JK, et al Adult-onset of Tangier disease: 1 Morphometric and pathologic studies suggesting delayed degradation of neutral lipids after ber degeneration J Neuropathol Exp Neurol 1978;37:119 137 76 Engel WK, Dorman JD, Levy RI, et al Neuropathy in Tangier disease Arch Neurol 1967;17:1 9 77 Gibbels E, Schaefer HE, Runne U, et al Severe polyneuropathy in Tangier s disease mimicking syringomyelia or leprosy J Neurol 1985;232:283 294 78 Haas LF, Austad WI, Bergin JD Tangier disease Brain 1974;97:351 354 79 Kocen RS, LLoyd JK, Lascelles PT, et al Familial alipoprotein de ciency (Tangier disease) with neurological abnormalities Lancet 1967;1:1341 1345 80 Kocen RS, King RHM, Thomas PK, et al Nerve biopsy ndings in two cases of Tangier Disease Acta Neuropathol (Berl) 1973;26:317 326
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