Ceroidal Neuronal Lipofuscinosis (CLN): Developmental Trajectories
Neuronal ceroid lipofuscinosis (CLN), commonly called Batten disease, group together a group of rare lysosomal-based neurodegenerative disorders characterized by the intralysosomal accumulation of fluorescent ceroid lipofuscin material.
Common Path of Symptoms
- Progressive and rapid loss of visual acuity leading to blindness (often the first sign).
- Myoclonic and focal epileptic seizures refractory to pharmacological treatment.
- Progressive regression of cognitive (dementia) and motor milestones.
- Generalized motor impairment with profound spasticity and premature death.