title: 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.affiliation: 4th Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria.
authors.forename: Eva
authors.initials: E
authors.lastname: Brownstone
authors.forename: Till
authors.initials: T
authors.lastname: Voigtländer
authors.forename: Ulf
authors.initials: U
authors.lastname: Baumhackl
authors.forename: Josef
authors.initials: J
authors.lastname: Finsterer
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics*; D000927:Anticonvulsants / Q000627:therapeutic use; D018450:Disease Progression; D004834:Epilepsy, Post-Traumatic / Q000188:drug therapy / Q000235:genetics*; D005091:Exons; D005227:Fatty Acids / Q000097:blood; D020233:Gait Disorders, Neurologic / Q000235:genetics; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D017384:Sequence Deletion; D014635:Valproic Acid / Q000627:therapeutic use
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D000927:Anticonvulsants; D005227:Fatty Acids; D014635:Valproic Acid