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Diseases

Genetic and Rare Diseases Information Center (GARD)

Neuronal ceroid lipofuscinosis 2


Other Names for this Disease
  • CLN2
  • Jansky-Bielschowsky disease
  • CLN2 disease, late infantile (subtype)
  • CLN2 disease, juvenile (subtype)
  • CLN2 disease
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Overview

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, 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.[1][2][3]
Last updated: 8/31/2015

References

  1. Sara E Mole, PhD and Ruth E Williams, MD. Neuronal Ceroid-Lipofuscinoses. GeneReviews. August 2013; http://www.ncbi.nlm.nih.gov/books/NBK1428/.
  2. Celia H Chang, MD. Neuronal Ceroid Lipofuscinoses. Medscape Reference. September 2013; http://emedicine.medscape.com/article/1178391-overview.
  3. Late-infantile neuronal ceroid lipofuscinosis. Genetics Home Reference. August 2013; http://ghr.nlm.nih.gov/condition/late-infantile-neuronal-ceroid-lipofuscinosis.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Neuronal ceroid lipofuscinosis 2. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Neuronal ceroid lipofuscinosis 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CLN2
  • Jansky-Bielschowsky disease
  • CLN2 disease, late infantile (subtype)
  • CLN2 disease, juvenile (subtype)
  • CLN2 disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.