The Neuronal Ceroid-Lipofuscinoses (Batten Disease)

The neuronal ceroid-lipofuscinoses (NCLs) constitute one of the most common groups of inherited neurodegenerative disorders in children but may also occur in adults. The childhood forms of NCL show an autosomal recessive inheritance, and are clinically characterized by progressive mental and motor deterioration and loss of vision, often accompanied by epileptic seizures and myoclonus. The rare adult forms usually present as dementia. The common denominator of all forms of NCL is the lysosomal accumulation of abnormal lipofuscin-like material in nerve cells, associated with progressive and selective neuronal loss. The NCLs are caused by more than 400 mutations in at least 13 different genes. The diagnosis is based on the characteristic clinical picture and/or biopsy, and verified by enzyme tests and molecular genetic methods. Prenatal and carrier testing is increasingly available. Current research aims at bridging the gap between the multiple genomic defects and the strikingly uniform pattern of neurodegeneration, and developing new therapies.