Neuronal ceroid lipofuscinosis 2
Other Names for this Disease
- Jansky-Bielschowsky disease
- CLN2 disease, late infantile (subtype)
- CLN2 disease, juvenile (subtype)
developmental delay, and intellectual disability. CLN2-NCL is caused by changes (mutations) in the TPP1 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.Neuronal ceroid lipofuscinosis 2 (CLN2-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages two and four years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment,
Last updated: 8/31/2015
- Sara E Mole, PhD and Ruth E Williams, MD. Neuronal Ceroid-Lipofuscinoses. GeneReviews. August 2013; http://www.ncbi.nlm.nih.gov/books/NBK1428/.
- Celia H Chang, MD. Neuronal Ceroid Lipofuscinoses. Medscape Reference. December 14, 2015; http://emedicine.medscape.com/article/1178391-overview.
- Late-infantile neuronal ceroid lipofuscinosis. Genetics Home Reference. August 2013; http://ghr.nlm.nih.gov/condition/late-infantile-neuronal-ceroid-lipofuscinosis.
- Genetics Home Reference (GHR) contains information on Neuronal ceroid lipofuscinosis 2. This website is maintained by the National Library of Medicine.
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- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
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