Genetic counseling for the neuronal ceroid lipofuscinoses

The neuronal ceroid lipofuscinoses (NCLs) are a group of primarily childhood neurodegenerative disorders that are both progressive and hereditary. This group of disorders is thought to represent the most common progressive brain disorders in children. Genetic counseling for the NCLs is complex. This review will discuss aspects of the NCLs relevant to genetic counseling, including the history of the NCLs, classification, clinical aspects, molecular genetics, treatments, research and animal models, and the future prospects of those afflicted with one of these disorders. In addition, differential diagnoses, challenges in genetic counseling, genetic risks and testing, reproductive options, psychosocial issues, and support groups and other family resources will be presented as a detailed outline of appropriate genetic counseling for the neuronal ceroid lipofuscinoses.