Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis.
OBJECTIVE
To evaluate seizure phenomenology, treatment, and course in individuals with juvenile neuronal ceroid lipofuscinosis (JNCL).


METHODS
Data from an ongoing natural history study of JNCL were analyzed using cross-sectional and longitudinal methods. Seizures were evaluated with the Unified Batten Disease Rating Scale, a disease-specific quantitative assessment tool.


RESULTS
Eighty-six children (44 males, 42 females) with JNCL were assessed at an average of three annual visits (range 1-11). Eighty-six percent (n=74) experienced at least one seizure, most commonly generalized tonic-clonic, with mean age at onset of 9 years 7 months (SD 2y 10mo). Seizures were infrequent, typically occurring less often than once every 3 months, and were managed with one to two medications for most participants. Valproate (49%, n=36) and levetiracetam (41%, n=30) were the most commonly used seizure medications. Myoclonic seizures occurred infrequently (16%, n=14). Seizure severity did not vary by sex or genotype. Seizures showed mild worsening with increasing age.


CONCLUSIONS
The neuronal ceroid lipofuscinoses (NCLs) represent a group of disorders unified by neurodegeneration and symptoms of blindness, seizures, motor impairment, and dementia. While NCLs are considered in the differential diagnosis of progressive myoclonus epilepsy, we show that myoclonic seizures are infrequent in JNCL. This highlights the NCLs as consisting of genetically distinct disorders with differing natural history.
Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA.
Erika F
EF
Augustine
Heather R
HR
Adams
Christopher A
CA
Beck
Amy
A
Vierhile
Jennifer
J
Kwon
Paul G
PG
Rothberg
Frederick
F
Marshall
Robert
R
Block
James
J
Dolan
Jonathan W
JW
Mink
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D018450:Disease Progression; D006801:Humans; D008137:Longitudinal Studies; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications / Q000175:diagnosis*; D012640:Seizures / Q000175:diagnosis* / Q000209:etiology; D012720:Severity of Illness Index; D055815:Young Adult