Abstracts

Rationale: Treatment options for progressive myoclonic epilepsy have increased steadily. Whether this has led to significantly improved seizure control in Unverricht-Lundborg disease (ULD) patients is unclear. Methods: We identified retrospectively all patients seen at Helsinki University Hospital during 2003-2008 due to ULD verified by DNA analysis. Clinical data was collected from hospital records of 14 female and 6 male patients. Patients mean age at end of follow-up was 36 (18-58) years while mean age of symptom onset was 10 (7-16) years. Four patients were working or studying while 16 required at least occasional help from family, personal aide or nursing home staff. Seven patients required wheel chair for ambulation. Information concerning 5 other patients treated at Turku University Central Hospital will be added to the database. Results: At last follow-up visit, all patients were using polytherapy. One patient used 5 different drugs, while 10 patients used 4 drugs, 6 patients 3 drugs and 3 patients 2 drugs. Gradually decreasing independence and increasing need of help in activities of daily living was evident in all but 3 of the patients also during the last 10 years of treatment. During the year preceding the last follow-up visit, 14 patients had been free of tonic-clonic seizures, and only 2 patients had had more than 1 tonic-clonic seizure. I.v. treatment in the emergency unit had been needed for one patient due to repeated tonic-clonic seizures and for 5 patients due to prolonged myoclonias. Throughout medication history, 8 patients had been free of tonic-clonic seizures while on valproate (VPA) and clonazepam (CLN). Add-on therapy with topiramate (TPM) coincided with ceasing of tonic-clonic seizures in 1 additional patient and add-on therapy with levetiracetam (LEV) in 2 patients (subsequent follow-up of 9, 2 and 4 years). In the majority of patients, polytherapy was continued to control myoclonias. In 3 patients, attempts had been made to replace VPA. The most successful replacement with a combination of LEV, TPM and CLN lasted from 1999 to 2005, at which point myoclonic jerks required hospital ward treatment and VPA was added again to the medication. In 3 patients, an attempt to withdraw TPM after introducing LEV was unsuccessful due to increased myoclonias. In 9 patients, depression had been diagnosed within the years 2003-2008. Five had received antidepressants, including escitalopram (10 mg), citalopram (20-60 mg), venlafaxine (225mg) and fluoxetine (60 mg) with no seizure exacerbation. One patient reported increase of high-amplitude jerks when using either mirtazapine (30mg) or mianserine (60 mg) while tolerating high-dose (60 mg) citalopram. Conclusions: The long-term retention rate of several different drugs suggests that combination therapy can improve seizure control in ULD. Unfortunately, inadvertent accumulation of adverse events due to heavy polytherapy is possible when aiming to minimize myoclonic jerks. VPA still appears difficult to replace even in benign forms of ULD.