To quantify and characterize gait dysfunction in individuals with CLN3 disease.

CLN3 disease (juvenile neuronal ceroid lipofuscinosis) is a genetic neurodegenerative disease of childhood characterized by vision loss, epilepsy, dementia, and motor dysfunction. Physical impairment, primarily parkinsonism, begins between 10 and 12 years of age and demonstrates slow, linear progression with age, to non-ambulation then a bedridden state. Quantitative data on specific aspects of gait impairment in CLN3 disease are limited.

Spatiotemporal gait analysis was conducted in individuals with CLN3 disease, using a 16-foot pressure sensing ProtoKinetics Zeno™ Walkway Gait Analysis System. Each participant made 4 to 6 passes across the mat, at self-selected natural walking speed, for a minimum of 13 footfalls per trial. Each assessment was videorecorded. Data were evaluated with descriptive statistics; correlations between age (a surrogate for disease duration) and select gait parameters were performed.

Ten subjects completed a single assessment (mean age 11.9 years, range 2-22 years, female n=5). Significant correlations were observed between age and the following gait parameters: cadence (r=-0.64, p=0.047), velocity (r=-.65, p=0.042), step length asymmetry (r=0.7, p=0.024), stride width (r=0.77 p=0.009), and stance % (r=0.85, p=0.002).  Age and step length were not significantly correlated.