Phenotypes of Female Adrenoleukodystrophy

Neurology. 2007 Mar 20;68(12):960-1. doi: 10.1212/01.wnl.0000257129.51273.73.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics
  • Adrenoleukodystrophy / genetics
  • Adrenoleukodystrophy / pathology
  • Adrenoleukodystrophy / physiopathology*
  • Adult
  • Age of Onset
  • Bipolar Disorder / genetics
  • Bipolar Disorder / pathology
  • Bipolar Disorder / physiopathology
  • Brain / pathology*
  • Brain / physiopathology
  • Cerebellar Diseases / genetics
  • Cerebellar Diseases / pathology
  • Cerebellar Diseases / physiopathology*
  • Cerebellum / pathology
  • Cerebellum / physiopathology
  • DNA Mutational Analysis
  • Disease Progression
  • Fatal Outcome
  • Female
  • Genetic Predisposition to Disease / genetics
  • Heterozygote
  • Humans
  • Mental Disorders / genetics
  • Mental Disorders / pathology
  • Mental Disorders / physiopathology*
  • Middle Aged
  • Mutation
  • Optic Nerve Diseases / genetics
  • Optic Nerve Diseases / pathology
  • Optic Nerve Diseases / physiopathology
  • Paraparesis, Spastic / genetics
  • Paraparesis, Spastic / pathology
  • Paraparesis, Spastic / physiopathology*
  • Phenotype
  • X Chromosome Inactivation / genetics

Substances

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