Juvenile Neuronal Ceroid Lipofuscinosis (JNCL): Quantitative Description of Its Clinical Variability

Abstract

The clinical courses of 17 JNCL patients were analyzed retrospectively with the use of a simple, disease-specific scoring system. The mean observation period was 14 years (range 8-18 years). Scores of 0 (maximal dysfunction) to 3 (normal function) were assigned to each patient's vision, intellect, language, motor function, and epilepsy for each year of observation. The lapse of medians and ranges of all patients' scores were established from age 3 to 20 years. This scoring system allowed quantitative description of an individual course in context of the wide natural variability of the disease. Patients with seizures starting before the age of 10 years tended to have intractable epilepsy, to receive multiple antiepileptic drug therapies, and to have poor courses including problems not related to epilepsy. One patient had a course clearly outside the usual variability of JNCL and is thought to represent a genetic variant.

Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate

“…All these limitations may have introduced a bias in the obtained results. The used DSS in its original development was validated only for patients between ages 3 and 20 (Kohlscutter et al 1988). The scoring of our study participants was done from age 1.…”

Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease

“…The patients were analyzed according to a previously established clinical scoring system (7). Clinical scoring and calculation of an Index of Relative Severity (Table 1) are described in the supplementary material.…”

A clinical rating scale for Batten disease

“…[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. Whereas the UBDRS is modeled after similar multimodal scales that have proven to be extremely important in the evaluation of experimental therapeutics in Parkinson disease 31 and Huntington disease, 32 we thought that it was necessary to establish the reliability and validity of a scale uniquely targeted to the assessment of JNCL because the disease 1) has distinctive manifestations and natural history, 2) unfolds in a developmental context, 3) results in blindness, which itself can be expected to impact physical, behavioral, and functional assessment, and 4) is commonly associated with behavioral impairment that can impact physical and cognitive assessments.…”