The neuronal ceroid lipofuscinoses: Clinical features and molecular basis of disease

Abstract

The neuronal ceroid lipofuscinoses (NCLs) are among the most common groups of fatal neurodegenerative diseases affecting children, being estimated at 1 in 12,000 live births. To date, all NCLs, collectively known as Batten disease, have recessive modes of inheritance. The original classification of the NCLs relied on a combination of histological qualities of tissues harvested from patients, and symptoms of disease. More recently, classical genetics and biochemical approaches have revealed the molecular basis of six of the seven loci causative of the NCLs. In this chapter we describe the genetic and biochemical distinctions among the NCLs and representative animal models, and review what is known currently about the proteins encoded.