{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T20:19:53Z","timestamp":1779913193634,"version":"3.53.1"},"reference-count":38,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[1993,7,1]],"date-time":"1993-07-01T00:00:00Z","timestamp":741484800000},"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":[[1993,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The leukodystrophies are degenerative diseases that involve primarily the white matter of the brain. The most common leukodystrophies result from known disturbances in the synthesis or catabolism of myelin such as a block in the catabolism of sulphatides and of galactocerebrosides, respectively, in metachromatic leukodystrophy and in Krabbe disease, or from synthesis of an abnormal proteolipid protein in Pelizaeus\u2010Merzbacher disease. The cause of white matter involvement in other leukodystrophies remains unknown even though metabolic anomalies, such as accumulation of acetylaspartic acid in Canavan disease, have been demonstrated.<\/jats:p><jats:p>Common clinical features of the leukodystrophies include neurological deterioration following a period of normal development, predominant involvement of motor function at least initially, and absence of convulsions or myoclonus. Imaging \u2014 especially magnetic resonance \u2014 shows changes in density or signal from central white matter.<\/jats:p><jats:p>Most leukodystrophies feature suggestive symptoms and signs such as effects on peripheral nerves' myelin in Krabbe disease and metachromatic leukodystrophy, or X\u2010linked inheritance and slow deterioration in Pelizaeus\u2010Merzbacher disease.<\/jats:p><jats:p>Therapy of the leukodystrophies is purely symptomatic in most cases. Trials of bone marrow transplantation are being pursued for metachromatic leukodystrophy and adrenoleukodystrophy.<\/jats:p>","DOI":"10.1007\/bf00711905","type":"journal-article","created":{"date-parts":[[2004,11,30]],"date-time":"2004-11-30T10:29:25Z","timestamp":1101810565000},"page":"733-743","source":"Crossref","is-referenced-by-count":54,"title":["The inherited leukodystrophies: A clinical overview"],"prefix":"10.1002","volume":"16","author":[{"given":"J.","family":"Aicardi","sequence":"first","affiliation":[{"name":"H\u00f4pital des Enfants Malades Rue de S\u00e8vres 149 Paris Cedex 15 F\u201075743 France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1993,7]]},"reference":[{"key":"e_1_2_1_2_1","volume-title":"Neurology of Hereditary Metabolic Diseases of Children","author":"Adams RD","year":"1982"},{"key":"e_1_2_1_3_1","first-page":"3","volume-title":"Aktuelle Neurop\u00e4diatrie","author":"Aicardi J","year":"1989"},{"key":"e_1_2_1_4_1","volume-title":"Diseases of the Nervous System in Childhood","author":"Aicardi J","year":"1992"},{"key":"e_1_2_1_5_1","first-page":"60","article-title":"A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis","volume":"16","author":"Aicardi J","year":"1984","journal-title":"Ann Neurol"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.39.12.1619"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199006283222607"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00692698"},{"key":"e_1_2_1_9_1","article-title":"X\u2010linked inherited demyelinating disease (Pelizaeus\u2010Merzbacher disease); tight linkage with the proteolipoprotein gene (PLP) in 17 families.","volume":"239","author":"Boespflug\u2010Tanguy O","year":"1992","journal-title":"J Neurol"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/108.2.367"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01899.x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01850970"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.12.1876"},{"key":"e_1_2_1_14_1","first-page":"435","article-title":"Pelizaeus\u2010Merzbacher disease: an X\u2010linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein","volume":"45","author":"Gencic S","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00202403"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000112164"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389000500405"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1052374"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1071487"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01955534"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410310305"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711909"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410210208"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199001043220106"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1159\/000112166"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1159\/000112167"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.57.3.168"},{"key":"e_1_2_1_28_1","article-title":"Early treated phenylketonuria: do MR images parallel clinical, biochemical and neurophysiological data?","volume":"239","author":"Meyding\u2010Lamade UK","year":"1992","journal-title":"J Neurol"},{"key":"e_1_2_1_29_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0065-3101(24)00132-4","article-title":"Peroxisomal disease","volume":"36","author":"Moser HW","year":"1989","journal-title":"Adv Pediatr"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1159\/000112170"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.177.2.2217781"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.54.4.293"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199101033240104"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380129"},{"key":"e_1_2_1_35_1","first-page":"751","article-title":"Autistic children: diagnostic and clinical features","volume":"87","author":"Rapin I","year":"1991","journal-title":"Pediatrics"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410210304"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(91)90046-N"},{"key":"e_1_2_1_38_1","first-page":"119","volume-title":"Maturation of the CNS and Evoked Potentials","author":"Taylor MJ","year":"1990"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1159\/000112173"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711905","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711905","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,20]],"date-time":"2024-12-20T21:34:26Z","timestamp":1734730466000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF00711905"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,7]]},"references-count":38,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1993,7]]}},"alternative-id":["10.1007\/BF00711905"],"URL":"https:\/\/doi.org\/10.1007\/bf00711905","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,7]]}}}