Female Carriers of X-chromosomal Adrenoleukodystrophy: A Major Differential Diagnosis in Progressive Myelopathy

J Neurol. 2010 Aug;257(8):1394-5. doi: 10.1007/s00415-010-5505-8. Epub 2010 Mar 2.

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.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics
  • Adrenoleukodystrophy / diagnosis*
  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / physiopathology
  • Aged
  • Diagnosis, Differential
  • Female
  • Genetic Predisposition to Disease / genetics
  • Heterozygote*
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Pedigree

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters