Fourth International Symposium on Neuroacanthocytosis

Abstracts from the Fourth International Symposium on Neuroacanthocytosis

July 1-2, 2008
London and Oxford

Chairs: Prof. Kailash Bhatia, MD, FRCP, Institute of Neurology, University College London; Prof. Anthony P. Monaco, MD, PhD, Wellcome Trust Centre for Human Genetics, University of Oxford

Organizers: Antonio Velayos-Baeza, PhD; Susanne Schneider, MD; Glenn Irvine

1-4 Epilepsy in chorea-acanthocytosis
C. Vollmar
The National Society for Epilepsy, Chalfont St. Peter, Bucks, UK

It is reported that 30-40% of chorea-acanthocytosis (ChAc) patients have seizures at some stage of their disease. Seizures can occur many years after the onset of a movement disorder, but they can also precede any other clinical manifestation by as much as 15 years. In such cases the diagnosis of ChAc may be established many years after the first seizure.
Unfortunately the majority of studies do not further classify the epilepsy, mostly 'generalised seizures' are described, however, some of them might well have had a focal onset and secondary generalisation.
We describe a patient who underwent evaluation for epilepsy surgery because of medically intractable temporal lobe epilepsy. Surgery was not an option as he had independent seizures arising from either temporal lobe. During this presurgical evaluation FDG-PET was performed and showed a markedly reduced metabolism of the caudate nucleus, MRI showed mild global atrophy. Later he developed orofacial tics with dyskinesia and the diagnosis of ChAc was made.
This patient was shown to have focal bilateral temporal lobe epilepsy, but in many ChAc patients a clear syndromatic epilepsy classification may not be available. It might even remain unclear if they have generalised or focal epilepsy which could have an impact on the choice of anticonvulsant medication. Additionally further information about the epilepsy can improve our understanding of basic mechanisms of ChAc s: truly generalised epilepsies can be indicative of molecular dysfunction, e.g. in ion-channels, whereas focal epilepsies suggest mechanisms of focal structural damage, e.g. on an embolic or inflammatory basis.
Therefore we recommend that epileptologists become involved, to achieve a distinct syndromic classification of epilepsy in ChAc patients with seizures.