Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/19929
Title: Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis.
Authors: Mole, Sara E;Anderson, Glenn;Band, Heather A;Berkovic, Samuel F;Cooper, Jonathan D;Kleine Holthaus, Sophia-Martha;McKay, Tristan R;Medina, Diego L;Rahim, Ahad A;Schulz, Angela;Smith, Alexander J
Affiliation: Northern Health, The University of Melbourne, Victoria, Australia
Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA
Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Telethon Institute of Genetics and Medicine, Naples, Italy
UCL Institute of Ophthalmology, University College London, London, UK
UCL School of Pharmacy, University College London, London, UK
Centre for Bioscience, Manchester Metropolitan University, Manchester, UK
Batten Disease Family Association, Farnborough, UK
Department of Histopathology, Great Ormond Street Hospital, London, UK
Medical Research Council Laboratory for Molecular Cell Biology and UCL Great Ormond Street Institute of Child Health, University College London, London, UK
Issue Date: 20-Nov-2018
EDate: 2018-11-20
Citation: The Lancet. Neurology 2018; online first: 20 November
Abstract: Treatment 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.
URI: http://ahro.austin.org.au/austinjspui/handle/1/19929
DOI: 10.1016/S1474-4422(18)30368-5
ORCID: 0000-0003-4580-841X
PubMed URL: 30470609
Type: Journal Article
Review
Appears in Collections:Journal articles

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