Epilepsy and Antiepileptic Drug Therapy in Juvenile Neuronal Ceroid Lipofuscinosis

Abstract

Summary: Purpose: To survey the characteristics of epilepsy in patients with juvenile neuronal ceroid lipofuscinosis (JNCL) and determine the antiepileptic drug (AED) treatment most suitable for these patients.Methods: The study included 60 patients with JNCL; their mean age was 16.5 years (range 5-33). The age at onset of epilepsy, type of seizures, effect of the fmt AED on seizures, and the current seizure frequency and AED therapy were studied. The side effects of the AEDs were also clarified.Results: Fifty of the 60 patients had epilepsy. Patients' first epileptic seizure occurred at a mean age of 10.0 years (range 5-16), the most common type being generalized seizures. As the fwst AED tried, valproate (WA) and lamotrigine (LTG) appeared equally effective, with 80% of the patients responding to these AEDs. During the study year, the median seizure fiequency was four seizures a year (range 0-120), and 72% of the patients had good or satisfactory seizure control (0-6 seizures a year). In the different AED therapy groups, the proportion of patients with good or satisfactory seizure control ranged from 25% to 100%. LTG in monotherapy or in combination with clonazepam (CZP) was superior to other AEDs or combinations, but W A also seemed effective. Adverse effects leading to the discontinuation of an AED were observed in 25% of the patients, most frequently in patients receiving phenobarbital (PB). No patient receiving LTG had to discontinue the drug due to adverse effects.Conclusion: Epilepsy in JNCL can usually be successfully treated with the current AEDs. In Finnish patients with JNCL, treatment is based on LTG, or, secondarily, VPA. In combination therapy, CZP seems a valuable add-on AED.

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients

“…In our series, epilepsy with later onset appeared only in compound heterozygous CLN3 patients (cases 7a, 7b) (Wisniewski et al 1998b;Aberg et al 2009). Most cJNCL patients had generalized tonic-clonic seizures and were often reasonably well controlled as described in other series (Aberg et al 1999;Aberg et al 2000;Sarpong et al 2009). The blindness occurred a few years later than epilepsy in our series.…”

A clinical rating scale for Batten disease

“…[17][18][19][20][21][22][23] Therapeutic studies have targeted specific symptoms rather than overall disease progression. [24][25][26][27][28] A scoring system has been used to characterize a small number of patients, but no data are published regarding its interrater reliability. 29,30 We developed the Unified Batten Disease Rating Scale (UBDRS) to quantify the physical, behavioral, and functional aspects of JNCL.…”

Juvenile Neuronal Ceroid-Lipofuscinosis (Batten Disease): A Brief Review and Update

“…By late in the second decade to early third decade, JNCL patients are nonambulatory. This is followed by death, usually within a year [35][36][37][38][39][40][41][42][43][44][45][46][47].…”