Neuronal ceroid lipofuscinoses

Batten disease, or the neuronal ceroid lipofuscinoses (NCLs), is the collective name for a group of at least 13 fatal inherited storage disorders that share a series of broadly similar pathological and clinical features. Clinically, these diseases typically involve visual failure, medically refractory epilepsy, and relentless declines in motor and cognitive skills, usually ending in premature death. Collectively, the NCLs are considered the most common inherited neurodegenerative disease of child hood, but accurate incidence and prevalence rates are hard to obtain. Large animal models are especially valuable since their complex brains more closely resemble the human system and overcome the limitations of the relatively simple nervous system of mice. Significant spinal cord pathology is also evident, and the peripheral, autonomic, and enteric nervous systems are also affected. At present, no curative or disease-modifying treatment is available for the majority of NCL patients, and clinical care is limited to symptom control and supportive approaches.