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Diseases

Genetic and Rare Diseases Information Center (GARD)

Adult neuronal ceroid lipofuscinosis


Other Names for this Disease
  • Adult NCL
  • ANCL
  • CLN4 disease, adult autosomal dominant
  • Hagberg-Santavuori disease
  • INCL
Related Diseases
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Overview

Adult neuronal ceroid lipofuscinosis is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. There are two forms of adult neuronal ceroid lipofuscinosis that are differentiated by their underlying genetic cause, mode of inheritance and certain symptoms:[1][2][3]

  • Type A is characterized by a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy); dementia; difficulties with muscle coordination (ataxia); involuntary movements such as tremors or tics; and dysarthria. It is caused by changes (mutations) in the CLN6 or PPT1 gene and is inherited in an autosomal recessive manner.

  • Type B shares many features with type A; however, affected people also experience behavioral abnormalities and do not develop myoclonic epilepsy or dysarthria. It can be caused by mutations in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner.

Treatment options for adult neuronal ceroid lipofuscinosis are limited to therapies that can help relieve some of the symptoms.[2][3]
Last updated: 8/30/2015

References

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

  • Genetics Home Reference (GHR) contains information on Adult neuronal ceroid lipofuscinosis. 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) (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.
  • 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 Adult neuronal ceroid lipofuscinosis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Adult NCL
  • ANCL
  • CLN4 disease, adult autosomal dominant
  • Hagberg-Santavuori disease
  • INCL
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.