{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T08:30:44Z","timestamp":1769157044315,"version":"3.49.0"},"reference-count":54,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[1992,7,1]],"date-time":"1992-07-01T00:00:00Z","timestamp":709948800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1992,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>X\u2010linked adrenoleukodystrophy (ALD) is a relatively common disorder that shows a great deal of phenotypic variability. Approximately half of the patients have the rapidly progressive childhood cerebral form that is associated with an inflammatory response in brain and leads to total disability or death during the first decade. Twenty five per cent or more of the patients have adrenomyeloneuropathy (AMN), a form that progresses slowly, involves the spinal cord mainly, shows little or no inflammatory response, manifests in adulthood, and is compatible with a near\u2010normal life span. The two forms of the disease occur frequently within the same kindreds and nuclear families. Segregation analysis based on 3862 individuals in 89 kindreds points to the existence of an autosomal modifier locus with a likelihood ratio of 20:1. In addition, we present preliminary results of three types of therapy. Two hundred and four patients have received a dietary regimen that combines the administration of oils containing mono\u2010unsaturated fatty acids (oleic and erucic) with the restricted intake of very long\u2010chain fatty acids. This regimen normalizes the levels of satured very long\u2010chain fatty acids in plasma within 4 weeks. It appears to improve peripheral nerve function in patients with AMN, and a large\u2010scale trial is in progress to determine whether it can prevent the onset of neurological involvement in patients who have the biochemical abnormality of ALD but are neurologically intact. We report early results of bone marrow transplantation in 14 patients. There is encouraging but still preliminary evidence that transplantation can arrest the progression of the disease in patients with mild neurological involvement. There is urgent need to develop methods to combat the rapid progression of the cerebral forms of the disease, which so far has resisted therapeutic intervention, including immunosuppression or the administration of immunoglobulin.<\/jats:p>","DOI":"10.1007\/bf01799621","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:25:03Z","timestamp":1119374703000},"page":"645-664","source":"Crossref","is-referenced-by-count":188,"title":["Adrenoleukodystrophy: Phenotypic variability and implications for therapy"],"prefix":"10.1002","volume":"15","author":[{"given":"H. W.","family":"Moser","sequence":"first","affiliation":[{"name":"Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry Johns Hopkins University  USA"}]},{"given":"A. B.","family":"Moser","sequence":"additional","affiliation":[{"name":"Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry Johns Hopkins University  USA"}]},{"given":"K. D.","family":"Smith","sequence":"additional","affiliation":[{"name":"Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry Johns Hopkins University  USA"}]},{"given":"A.","family":"Bergin","sequence":"additional","affiliation":[{"name":"Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry Johns Hopkins University  USA"}]},{"given":"J.","family":"Borel","sequence":"additional","affiliation":[{"name":"Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry Johns Hopkins University  USA"}]},{"given":"J.","family":"Shankroff","sequence":"additional","affiliation":[{"name":"Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry Johns Hopkins University  USA"}]},{"given":"O. C.","family":"Stine","sequence":"additional","affiliation":[{"name":"Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry Johns Hopkins University  USA"}]},{"given":"C.","family":"Merette","sequence":"additional","affiliation":[{"name":"The Departments of Psychiatry and Genetics and Development Columbia University  USA"}]},{"given":"J.","family":"Ott","sequence":"additional","affiliation":[{"name":"The Departments of Psychiatry and Genetics and Development Columbia University  USA"}]},{"given":"W.","family":"Krivit","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Neurology University of Minnesota  USA"}]},{"given":"E.","family":"Shapiro","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Neurology University of Minnesota  USA"}]}],"member":"311","published-online":{"date-parts":[[1992,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410300118"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410210406"},{"key":"e_1_2_1_4_1","first-page":"408","article-title":"Frequent alteration of visual pigment genes in adrenoleukodystrophy","volume":"42","author":"Aubourg P","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.39.12.1619"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199006283222607"},{"key":"e_1_2_1_7_1","first-page":"459","article-title":"The red\u2010green visual pigment gene region in adrenoleukodystrophy","volume":"46","author":"Aubourg PB","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","first-page":"436a","article-title":"Cerebral lesions of adrenoleukodystrophy remain static and patients asymptomatic during dietary therapy","volume":"28","author":"Bebin EM","year":"1990","journal-title":"Ann Neurol"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00691593"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0885-4505(91)90010-I"},{"key":"e_1_2_1_11_1","volume-title":"ALD\/AMN Diet Cookbook","author":"Borel J","year":"1990"},{"key":"e_1_2_1_12_1","first-page":"164","article-title":"Adrenoleukodystrophy: Effects of dietary restriction of very long chain fatty acids and of administration of carnitine and clofibrate on clinical status and plasma fatty acids","volume":"151","author":"Brown FR","year":"1982","journal-title":"Johns Hopkins Med J"},{"key":"e_1_2_1_13_1","first-page":"219","article-title":"The significance of the \u2018dying\u2010back\u2019 process in human and experimental neurological diseases","volume":"3","author":"Cavanagh JB","year":"1964","journal-title":"Int Rev Exp Pathol"},{"key":"e_1_2_1_14_1","volume-title":"Likelihood","author":"Edwards AWF","year":"1972"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03159942"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(77)80712-9"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.7.980"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410180606"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.27.12.1107"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/70.3.405"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(80)91182-1"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI110963"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410190402"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.20.7647"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1989.00520420029020"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.8.5066"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(89)80083-X"},{"key":"e_1_2_1_28_1","first-page":"1511","volume-title":"The Metabolic Basis of Inherited Disease","author":"Moser HW","year":"1989"},{"key":"e_1_2_1_29_1","first-page":"117","volume-title":"Techniques in Diagnostic Human Biochemical Genetics","author":"Moser HW","year":"1990"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.10.1241"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.34.11.1410"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410210305"},{"key":"e_1_2_1_33_1","first-page":"148A","article-title":"Ganglioside administration reduces plasma C26:0 levels in adrenoleukodystrophy and adrenomyeloneuropathy. Results of clinical trials","volume":"24","author":"Moser AB","year":"1988","journal-title":"Ann Neurol"},{"key":"e_1_2_1_34_1","first-page":"111","volume-title":"Treatment of Genetic Diseases","author":"Moser HW","year":"1991"},{"key":"e_1_2_1_35_1","first-page":"297","volume-title":"Endocrinology and Metabolism Clinics of North America: New Aspects of Adrenal Cortical Disease","author":"Moser HW","year":"1991"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1159\/000112170"},{"key":"e_1_2_1_37_1","first-page":"220","article-title":"Treatment of adrenoleukodystrophy by diet and plasmapheresis","volume":"12","author":"Murphy JV","year":"1982","journal-title":"Ann Neurol"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1988.00520320032011"},{"key":"e_1_2_1_39_1","first-page":"181","article-title":"Adrenoleukodystrophy (adreno\u2010testiculo\u2010leuko\u2010myelo\u2010neuropathic\u2010complex)","volume":"4","author":"Powers JM","year":"1985","journal-title":"Clin Neuropathol"},{"key":"e_1_2_1_40_1","first-page":"353","article-title":"A correlative study of the adrenal cortex in adrenoleukodystrophy: Evidence for a fatal intoxication with very long chain fatty acids","volume":"3","author":"Powers JM","year":"1980","journal-title":"Invest Cell Pathol"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.36.3.357"},{"key":"e_1_2_1_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410210304"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.39.11.1415"},{"key":"e_1_2_1_44_1","first-page":"794","article-title":"Color vision defects in adrenoleukodystrophy","volume":"44","author":"Sack GH","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_45_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199001043220103"},{"key":"e_1_2_1_46_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1975.00490510033001"},{"key":"e_1_2_1_47_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198403000-00016"},{"key":"e_1_2_1_48_1","first-page":"1533","volume-title":"The Metabolic Basis of Inherited Disease","author":"Steinberg D","year":"1989"},{"key":"e_1_2_1_49_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1981.00510010074014"},{"key":"e_1_2_1_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4439(90)90010-M"},{"key":"e_1_2_1_51_1","first-page":"163","volume-title":"Adrenoleukodystrophy and Other Peroxisomal Disorders: Clinical, Biochemical, Genetic and Therapeutic Aspects","author":"Uziel G","year":"1990"},{"key":"e_1_2_1_52_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/40.2.277"},{"key":"e_1_2_1_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(88)81140-9"},{"key":"e_1_2_1_54_1","first-page":"334A","article-title":"Bone marrow transplantation (BMT) for adrenoleukodystrophy (ALD)","volume":"23","author":"Weinberg K","year":"1988","journal-title":"Pediatr Res"},{"key":"e_1_2_1_55_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113292"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799621","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799621","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T10:38:24Z","timestamp":1694860704000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01799621"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,7]]},"references-count":54,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1992,7]]}},"alternative-id":["10.1007\/BF01799621"],"URL":"https:\/\/doi.org\/10.1007\/bf01799621","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,7]]}}}