Neurodegenerative diseases of childhood

The understanding of neurodegenerative diseases of childhood has been changing rapidly in recent times: not only is the number of different diseases and underlying genetic defects steadily increasing, approaches to diagnosis and treatment have also developed because of recent technological and therapeutic advances relating to this group of disorders. New gene defects have been identified that provide a basis for understanding the molecular mechanisms underlying this group of diseases, and for the development of targeted therapies. This review focuses predominantly on one of the most common groups of diseases leading to degeneration of the central nervous system, neuronal ceroid lipofuscinosis (NCL). The number of NCL-causing genes and knowledge about genotype-phenotype correlations has been growing over the past few years and the first therapies have been developed. Hence, this group of diseases represents the rapid scientific development in the field of rare neurodegenerative diseases in childhood very well.