Dozières-Puyravel B, Nasser H, Elmaleh-Bergès M, et al. - Because neuronal ceroid lipofuscinoses (NCLs) are rare, progressive disorders, researchers explored distinctions between subtypes in their presenting symptoms and clinical, imaging, and electrophysiological outcomes to increase consciousness of symptom diversity through this series of 20 NCL patients. In 10 patients, causal mutations have been identified. In other NCL subtypes, seizures were not as common a presenting symptom. NCL patients have diverse symptoms that may not be characteristic in the early stages of the disease. These signs and symptoms should lead to prompt confirmatory diagnostic testing of NCLs.