Division of Neurology, The Hospital for Sick Children, University of Toronto, and Center for Brain and Mental Health, Sick Kids Research Institute, Canada
MRC Laboratory for Molecular Cell Biology, UCL Institute of Child Health and Department of Genetics, Evolution and Environment, University College London, London, UK
Correspondence: Berge A. Minassian,
Division of Neurology, The Hospital for Sick Children, University of Toronto,
And Center for Brain and Mental Health, Sick Kids Research Institute,
555 University Avenue, Toronto, ON M5G 1X8, Canada
The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative conditions that associate cognitive decline, progressive cerebellar atrophy, retinopathy, and myoclonic epilepsy. NCL result from the excessive accumulation of neuronal and extraneuronal lipopigments, despite having diverse underlying biochemical aetiologies. Here we review the clinical presentation, pathophysiology and genetics of these conditions as well as the approach to diagnosis and management.