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Infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease) is a neurodegenerative lysosomal storage disease caused by a deficiency in palmitoyl protein thioesterase-1 (PPT1). The PPT1-deficient mouse ( Cln1   −/−  ) is a useful phenocopy of human INCL.  Cln1   −/−   mice display retinal dysfunction, seizures, motor deficits, and die at ~8 months of age. However, little is known about the cognitive and behavioral functions of  Cln1   −/−   mice during disease progression. In the present study, younger (~1–2 months of age)  Cln1   −/−   mice showed minor deficits in motor/sensorimotor functions while older (~5–6 months of age)  Cln1   −/−   mice exhibited more severe impairments, including decreased locomotor activity, inferior cued water maze performance, decreased running wheel ability, and altered auditory cue conditioning. Unexpectedly, certain cognitive functions such as some learning and memory capabilities seemed intact in older  Cln1   −/−   mice. Younger and older  Cln1   −/−   mice presented with walking initiation defects, gait abnormalities, and slowed movements, which are analogous to some symptoms reported in INCL and parkinsonism. However, there was no evidence of alterations in dopaminergic markers in  Cln1   −/−   mice. Results from this study demonstrate quantifiable changes in behavioral functions during progression of murine INCL and suggest that Parkinson-like motor/sensorimotor deficits in  Cln1   −/−   mice are not mediated by dopamine deficiency.

Comprehensive functional characterization of murine infantile Batten disease including Parkinson-like behavior and dopaminergic markers