The Clinical Semiology of Epilepsy in Patients with Mitochondriopathy Due to Polymerase-gamma-(POLG) Mutations
Abstract number :
3.128
Submission category :
Clinical Epilepsy-Adult
Year :
2006
Submission ID :
6813
Source :
www.aesnet.org
Presentation date :
12/1/2006 12:00:00 AM
Published date :
Nov 30, 2006, 06:00 AM
Authors :
1Bernt A. Engelsen, 1Charalampos Tzoulis, 2Massimo Zeviani, 1Bj[oslash]rn Karlsen, 1Atle Lilleb[oslash], 3Liv L[aelig]greid, 4Aasly Jan, and 1Laurence Bindoff
The epileptic semiology of 19 norwegian patients (13 families) with mutations in the polymerase-[gamma] (POLG) gene is presented for the first time with EEG findings. A broader clinical symptomatology has been presented previously, but not a detailed description of the epilepsy.
The patients were either homozygous for the 1399 G[gt]A or 2243 G[gt]C mutation, or compound heterozygotes for either of the two mutations., Data from patients with therapy refractory status epilepticus were collected over several years, and tested for various mitochondrial mutations and delesions. After examination of several candidate areas mutations in POLG were found and subsequent candidate patients tested., Irrespective of the genotype the epilepsies developed a similar semiology with initial features of occipital lobe epilepsy followed by more secondary generalized features including focal motor phenomena and GTC seizures. Occipital seizure phenomena included, flickering coloured lights, visual loss, nystagmus (horizontal or vertical), dysmorphopsia, micro-macropsia, palinopsia and most patients had simple motor phenomena suggesting frontal lobe seizure origin or spread. SPS, CPS, myoclonic seizures and frequent convulsive status epilepticus were observed in the epileptic syndrome.
All but one patient developed status epilepticus. Ten of 19 patients are dead, all related to prolonged status epilepticus, icluding 2 with liver failure.
Epilepsy was the most common presentation of the full clinical syndrome, often with headache. The mean age at epilepsy debut was 18,4 years (6-58). The broader clinical semiology of most of these patients have been presented (Wintherthun et al. Neurology 2005;64:1204-8 and Tzoulis et al. Brain 2006, in press). The epilepsy and consequences of valproate treatment has proven the most important factor for fatal outcome., Occipital lobe epilepsy is a hallmark of POLG mutations in the present patient population, and epilepsy an important factor in fatal outcome., (Supported by Helse-Vest, Bergen. Norway.)
Clinical Epilepsy