Peripheral nerve abnormalities in adrenomyeloneuropathy: A clinical and electrodiagnostic study

Neurology

Volumn 46, Issue 1, 1996, Pages 112-118

  Van Geel, B M ^a,b   Koelman, J H T M ^a   Barth, P G ^a   Ongerboer De Visser, B W ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENOLEUKODYSTROPHY; AGED; ARTICLE; CLINICAL ARTICLE; DEMYELINATION; ELECTROMYOGRAM; ELECTRONEUROGRAPHY; FEMALE; HETEROZYGOTE; HUMAN; MALE; MOTOR NERVE CONDUCTION; MUSCLE ACTION POTENTIAL; NERVE FIBER DEGENERATION; POLYNEUROPATHY; PRIORITY JOURNAL; SPASTICITY;

EID: 0029884569     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.46.1.112     Document Type: Article

References (39)

1. Moser HW. Peroxisomal disorders. J Pediatr 1986;108:89-91.
2. Singh I, Moser AE, Goldfischer S, Moser HW. Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy. Proc Natl Acad Sci USA 1984;81:4203-4207.
3. Sereni C, Paturneau-Jouas M, Aubourg P, Baumann N, Feingold J. Adrenoleukodystrophy in France: an epidemiological study. Neuroepidemiology 1993;12:229-233.
4. van Geel BM, Assies J, Weverling GJ, Barth PG. Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in the Netherlands: a survey of 30 kindreds. Neurology 1994;44:2343-2346.
5. Powers JM. Adreno-leukodystrophy (adreno-testiculo-leukomyelo-neuropathic-complex). Clin Neuropathol 1985;4:181-199.
6. Aubourg P, Chaussain JL. Adrenoleukodystrophy presenting as Addison's disease in children and adults. Trends Endocrinol Metab 1991;2:49-52.
7. Moser HW, Moser AB, Smith KD, et al. Adrenoleukodystrophy: phenotypic variability and implications for therapy. J Inher Metab Dis 1992;15:645-664.
8. Moser HW, Moser AB, Naidu S, Bergin A. Clinical aspects on adrenoleukodystrophy and adrenomyeloneuropathy. Dev Neurosci 1991;13:254-261.
9. Donofrio PD, Albers JW. AAEM minimonograph #34. Polyneuropathy: classification by nerve conduction studies and electromyography. Muscle Nerve 1990;13:889-903.
10. Schaumburg HH, Powers JM, Raine CS, et al. Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. Neurology 1977;27:1114-1119.
11. Griffin JW, Goren E, Schaumburg H, Engel WK, Loriaux L. Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. Neurology 1977;27:1107-1113.
12. Zijlmans JM, van Marion WF. Spastische paraparese en bijnierschorsinsufficientie: adrenomyeloneuropathie. Ned Tijdschr Geneeskd 1987;131:208-211.
13. Davis LE, Snyder RD, Orth DN, Nicholson WE, Kornfeld M, Seelinger DF. Adrenoleukodystrophy and adrenomyeloneuropathy associated with partial adrenal insufficiency in three generations of a kindred. Am J Med 1979;66:342-347.
14. Martin JJ, Dompas B, Ceuterick C, Jakobs K. Adrenomyeloneuropathy and adrenoleukodystrophy in two brothers. Eur Neurol 1980;19:281-287.
15. Weber M, Barroche G, Vespignani H, Werner JE, Tridon P. Adrénomyéloneuropathie de l'adulte: probabilité d'un lien génétique avec l'adrénoleucodystrophie de l'enfant. Rev Neurol (Paris) 1980;136:131-146.
16. Vercruyssen A, Martin JJ, Mercelis R. Neurophysiological studies in adrenomyeloneuropathy: a report on five cases. J Neurol Sci 1982;56:327-336.
17. O'Neill BP, Moser HW, Saxena KM, Marmion LC. Adrenoleukodystrophy: clinical and biochemical manifestations in carriers. Neurology 1984;34:798-801.
18. Moser AB, Borel J, Odone A, et al. A new dietary therapy for adrenoleukodystrophy: biochemical and preliminary clinical results in 36 patients. Ann Neurol 1987;21:240-249.
19. Chazot G, Sassolas G, Kopp N, Trillet M, Schott B. Adrénomyéloneuropathie: forme adulte d'adrénoleukodystrophie: paraparésie spastique et insuffisance surrénale chronique: a propos de 3 cas. Rev Neurol (Paris) 1979;135:211-220.
20. O'Neill BP, Marmion LC, Feringa ER. The adrenoleukomyeloneuropathy complex: expression in four generations. Neurology 1981;31:151-156.
21. Bromberg MB. Comparison of electrodiagnostic criteria for primary demyelination in chronic neuropathy. Muscle Nerve 1991;14:968-976.
22. Albers JW, Kelly JJ. Acquired inflammatory demyelinating neuropathies: clinical and electrodiagnostic features. Muscle Nerve 1989;12:435-451.
23. Odone A, Odone M. Lorenzo's oil: a new treatment for adrenoleukodystrophy. J Pediatr Neurosci 1989;5:55-61.
24. Rizzo WB, Leshner RT, Odone A, et al. Dietary erucic acid therapy for X-linked adrenoleukodystrophy. Neurology 1989; 39:1415-1422.
25. Moser HW, Moser AB, Frayer KK, et al. Adrenoleukodystrophy: increased plasma content of saturated very long-chain fatty acids. Neurology 1981;31:1241-1246.
26. Moser HW, Moser AB, Kawamura N, et al. Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts. Ann Neurol 1980;7:542-549.
27. Ashworth B. Preliminary trial of carisoprodol in multiple sclerosis. Practitioner 1964;192:540-542.
28. Kurtzke JF. Rating neurologic impairment in multiple sclerosis: an expanded disability status scale (EDSS). Neurology 1983;33:1444-1452.
29. Schaumburg HH, Powers JM, Raine CS, Suzuki K, Richardson EP. Adrenoleukodystrophy: a clinical and pathological study of 17 cases. Arch Neurol 1975;32:577-591.
30. Budka H, Sluga E, Heiss WD. Spastic paraplegia associated with Addison's disease: adult variant of adreno-leukodystrophy. J Neurol 1976;213:237-250.
31. Martin JJ, Lowenthal A, Ceuterick C, Gacoms H. Adrenomyeloneuropathy: a report on two families. J Neurol 1982; 226:221-232.
32. Moser HW, Moser AB. Adrenoleukodystrophy (X-linked). In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. 6th ed. New York: McGraw-Hill, 1989:1511-1532.
33. Mosser J, Douar AM, Sarde CO, et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 1993;361:726-730.
34. Kemp S, Ligtenberg MJL, van Geel BM, et al. Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations. Biochem Biophys Res Commun 1994;202:647-653.
35. Fanen P, Guidoux S, Sarde CO, Mandel JL, Goossens M, Aubourg P. Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. J Clin Invest 1994;94:516-520.
36. Ligtenberg MJL, Kemp S, Sarde CO, et al. Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. Am J Hum Genet 1995;56:44-50.
37. Maestri NE, Beaty TH. Predictions of a 2-locus model for disease heterogeneity: applications to adrenoleukodystrophy. Am J Med Genet 1992;44:576-582.
38. Powers JM, Liu Y, Moser AB, Moser HW. The inflammatory myelinopathy of adreno-leukodystrophy: cells, effector molecules, and pathogenetic implications. J Neuropathol Exp Neurol 1992;51:630-643.
39. Phillips JP, Lockman LA, Shapiro EG, et al. CSF findings in adrenoleukodystrophy: correlation between measures of cytokines, IgG production, and disease severity. Pediatr Res 1994; 10:289-294.