• Sara E Mole, Glenn Anderson, Heather A Band, Samuel F Berkovic, Jonathan D Cooper, Kleine HolthausSophia-MarthaSMUCL Institute of Ophthalmology, University College London, London, UK., Tristan R McKay, Diego L Medina, Ahad A Rahim, Angela Schulz, and Alexander J Smith.
• Medical Research Council Laboratory for Molecular Cell Biology and UCL Great Ormond Street Institute of Child Health, University College London, London, UK. Electronic address: s.mole@ucl.ac.uk.
• Lancet Neurol. 2019 Jan 1; 18 (1): 107116107-116.

AbstractTreatment of the neuronal ceroid lipofuscinoses, also known as Batten disease, is at the start of a new era because of diagnostic and therapeutic advances relevant to this group of inherited neurodegenerative and life-limiting disorders that affect children. Diagnosis has improved with the use of comprehensive DNA-based tests that simultaneously screen for many genes. The identification of disease-causing mutations in 13 genes provides a basis for understanding the molecular mechanisms underlying neuronal ceroid lipofuscinoses, and for the development of targeted therapies. These targeted therapies include enzyme replacement therapies, gene therapies targeting the brain and the eye, cell therapies, and pharmacological drugs that could modulate defective molecular pathways. Such therapeutic developments have the potential to enable earlier diagnosis and better targeted therapeutic management. The first approved treatment is an intracerebroventricularly administered enzyme for neuronal ceroid lipofuscinosis type 2 disease that delays symptom progression. Efforts are underway to make similar progress for other forms of the disorder.Copyright © 2019 Elsevier Ltd. All rights reserved.

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