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

Abstract

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.

• Authors: Eva Brownstone, Till Voigtländer, Ulf Baumhackl, Josef Finsterer
• Journal: Gene (Gene) Vol. 513 Issue 1 Pg. 71-4 (Jan 15 2013) ISSN: 1879-0038 [Electronic] Netherlands
• PMID: 23154058 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2012 Elsevier B.V. All rights reserved.

Chemical References

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

Topics

• 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, 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)