title: Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.
abstract: Adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) are allelic X-chromosomal disorders of peroxisomal lipid metabolism due to mutations of the ABCD1-gene, leading, respectively, to leukoencephalopathy or myeloneuropathy in male patients. We report a family with two symptomatic carriers in subsequent generations who both suffer from symptoms of an AMN. In both patients, molecular genetic testing revealed a heterozygous c.1552C>T-transition (p.Arg518Trp) in exon 6 of ABCD1. Our observations underline the importance of identifying such symptomatic ALD carriers.
authors.forename: Anne-Katrin
authors.initials: AK
authors.lastname: Guettsches
authors.forename: Alma
authors.initials: A
authors.lastname: Kuechler
authors.forename: Andreas
authors.initials: A
authors.lastname: Gal
authors.forename: Werner
authors.initials: W
authors.lastname: Schmitz
authors.forename: Martin
authors.initials: M
authors.lastname: Tegenthoff
authors.forename: Matthias
authors.initials: M
authors.lastname: Vorgerd
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D000368:Aged; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters