Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Neuronal ceroid lipofuscinosis 3


Other Names for this Disease
  • Batten disease
  • CLN3 disease, juvenile
  • JNCL
  • Juvenile NCL
  • Juvenile neuronal ceroid lipofuscinosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Neuronal ceroid lipofuscinosis 3 (CLN3) is a rare condition that affects the nervous system. Signs and symptoms generally develop between age 4 and 8 years, although later onset cases have been reported. Affected people may experience rapidly progressive vision loss, developmental regression (loss of acquired milestones), cognitive decline, heart problems, seizures, speech disturbances, behavioral problems (including aggression), and movement abnormalities. Life expectancy generally ranges from the late teens to the 30's. CLN3 is caused by changes (mutations) in the CLN3 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]
Last updated: 9/1/2015

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.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Your Questions Answered
Your Questions Answered
View questions about this condition answered by GARD Information Specialists. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on Neuronal ceroid lipofuscinosis 3. 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.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare 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 3. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Batten disease
  • CLN3 disease, juvenile
  • JNCL
  • Juvenile NCL
  • Juvenile neuronal ceroid lipofuscinosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.