Category: Pediatric Movement Disorders
Objective: To describe the spectrum of movement disorders and associated clinical, genetic, and radiological features in children with Neuronal Ceroid Lipofuscinosis (NCL)
Background: NCLs are inherited lysosomal neurodegenerative disorders and the most common cause of childhood dementia. While epilepsy and cognitive decline are well recognized, movement disorders form an important yet under-described component of the disease phenotype, particularly in pediatric cohorts from low- and middle-income countries
Method: This observational cohort study was conducted at a tertiary pediatric neurology center. Children ≤15 years with genetically or enzymatically confirmed NCL were enrolled. Clinical, neuroimaging, and genetic data were analyzed. Neurological outcomes were assessed using standardized scales, including the Unified Batten Disease Rating Scale (UBDRS) and Gross Motor Function Classification System–Expanded and Revised (GMFCS-ER). Movement disorders were classified and documented during neurological examination.
Results: Forty-one children from 35 families were included (M:F 1.15). Mean age at first neurological symptom was 3.3 ± 1.5 years, and mean age at presentation was 5.1 ± 2.1 years. Movement disorders were observed in 21 children (51.2%). Tremor was the most frequent manifestation (47.6%), followed by myoclonus (33.3%), choreoathetosis (23.8%), stereotypies (19%), chorea (9.5%), and dystonia (4.7%). Cerebellar signs were present in 58.5% of patients, with ataxia in 54.1%. The most common genetic subtype was CLN2 (31.7%). MRI abnormalities were present in 91%, most commonly cerebral and cerebellar atrophy. Disease progression was rapid, with loss of independent ambulation at a mean age of 4.9 years.
Conclusion: Movement disorders are common and clinically significant in pediatric NCL, with hyperkinetic manifestations predominating. Recognition of these phenotypes may aid earlier diagnosis and provide relevant outcome markers for future therapeutic trials.
To cite this abstract in AMA style:
A. Saini, S. Vaidya. Movement Disorder Spectrum and Neurological Outcomes in Children with Neuronal Ceroid Lipofuscinosis [abstract]. Mov Disord. 2026; 41 (suppl 1). https://www.mdsabstracts.org/abstract/movement-disorder-spectrum-and-neurological-outcomes-in-children-with-neuronal-ceroid-lipofuscinosis/. Accessed October 1, 2026.« Back to 2026 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/movement-disorder-spectrum-and-neurological-outcomes-in-children-with-neuronal-ceroid-lipofuscinosis/