Epilepsy in adult X-linked adrenoleucodystrophy due to the deletion c.1415-1416delAG in exon 5 of the ABCD1-gene

Gene. 2013 Jan 15;513(1):71-4. doi: 10.1016/j.gene.2012.10.076. Epub 2012 Nov 12.


Seizures in cerebral X-linked adrenoleucodystrophy (X-ALD) more frequently occur in the early-onset compared to the late-onset form. Here we describe an adult in whom X-ALD deteriorated after head trauma and who developed epilepsy with progression of X-ALD. In a 50 year-old Caucasian male, cerebral X-ALD was diagnosed upon progressive gait disturbance, intellectual decline, elevated very-long chain fatty acids in the serum or leucocytes, cerebral MRI, showing extensive, symmetric, homogenous demyelination in the parieto-occipital areas, the splenium corporis callosum, the thalamus, the crura cerebri, the brain stem, and the pedunculi cerebelli, and the deletion c.1415-1416delAG in the ABCD1-gene. After a head trauma the phenotype deteriorated to mutism, dysphagia, and severe spastic quadruparesis. At an age of 50 years the patient experienced his first, self-limiting, tonic-clonic seizure during an infection, which is why valproic acid was started. Recurrence of seizures after discharge required repeated adaptation of the valproic acid-dosage. Adult X-ALD may be associated with late-onset seizures, which respond favourably to valproic acid. Since any type of seizure episode in adult-onset cerebral X-ALD is usually followed by neurological decline, prophylactic treatment with antiepileptic drugs should be considered not only in early-onset but also in adult-onset epilepsy in X-ALD.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics*
  • Adrenoleukodystrophy / genetics*
  • Anticonvulsants / therapeutic use
  • Disease Progression
  • Epilepsy, Post-Traumatic / drug therapy
  • Epilepsy, Post-Traumatic / genetics*
  • Exons*
  • Fatty Acids / blood
  • Gait Disorders, Neurologic / genetics
  • Hereditary Central Nervous System Demyelinating Diseases / genetics
  • Humans
  • Intellectual Disability / genetics
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Sequence Deletion*
  • Valproic Acid / therapeutic use


  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Anticonvulsants
  • Fatty Acids
  • Valproic Acid