Neuronal ceroid lipofuscinosis 2
Other Names for this Disease
- Jansky-Bielschowsky disease
- CLN2 disease, late infantile (subtype)
- CLN2 disease, juvenile (subtype)
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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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- 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.
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