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Diseases

Genetic and Rare Diseases Information Center (GARD)

Neuronal ceroid lipofuscinosis 10


Other Names for this Disease
  • Cathepsin D deficiency
  • Ceroid lipofuscinosis neuronal Cathepsin D-deficient
  • CLN10
  • CLN10 disease
  • CLN10 disease, adult (subtype)
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Overview

Neuronal ceroid lipofuscinosis 10 (CLN10) is a rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10 is caused by changes (mutations) in the CTSD 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: 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. CEROID LIPOFUSCINOSIS, NEURONAL, 10. OMIM. April 2014; http://www.omim.org/entry/610127.
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Basic Information

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 10 . Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Cathepsin D deficiency
  • Ceroid lipofuscinosis neuronal Cathepsin D-deficient
  • CLN10
  • CLN10 disease
  • CLN10 disease, adult (subtype)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.