Adrénoleucodystrophie liée à l'X chez une proposante symptomatique : présentation clinique, diagnostic biologique et conséquences familiales

Bezman, 2001, Adrenoleukodystrophy: incidence, new mtation rate, and results of extended family screening, Ann. Neurol., 49, 512, 10.1002/ana.101 Mosser, 1993, Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters, Nature, 361, 726, 10.1038/361726a0 Feigenbaum, 1996, Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy, Am. J. Hum. Genet, 58, 1135 Bezman, 1998, Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes, Am. J. Med. Genet, 76, 415, 10.1002/(SICI)1096-8628(19980413)76:5<415::AID-AJMG9>3.0.CO;2-L Moser, 1997, Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy, Brain, 120, 1485, 10.1093/brain/120.8.1485 Ménage, 1993, Les adrénoleucodystrophies hétérozygotes symptomatiques de l’adulte : dix cas, Rev. Neurol., 149, 445 Baumann, 2000, Adult-onset leukodystrophies, J. Neurol., 247, 751, 10.1007/s004150070088 Maier, 2002, Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation, Ann. Neurol., 52, 683, 10.1002/ana.10376 Shapiro, 2000, Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy, Lancet, 356, 713, 10.1016/S0140-6736(00)02629-5 Kirk, 1998, X-linked adrenoleucodystrophy: the Australasian experience, Am. J. Med. Genet, 76, 420, 10.1002/(SICI)1096-8628(19980413)76:5<420::AID-AJMG10>3.0.CO;2-O Van Geel, 1994, Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in the Netherlands: a survey of 30 kindreds, Neurol., 44, 2343, 10.1212/WNL.44.12.2343 Watkins, 1995, Altered expression of ALDP in X-linked adrenoleukodystrophy, Am. J. Hum. Genet, 57, 292 Kemp, 2001, ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations, Hum. Mutat., 18, 499, 10.1002/humu.1227