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Diseases

Genetic and Rare Diseases Information Center (GARD)

Autosomal dominant neuronal ceroid lipofuscinosis 4B


Other Names for this Disease
  • Adult neuronal ceroid lipofuscinosis 4B
  • Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant
  • Ceroid lipofuscinosis, neuronal, Parry type
  • CLN4B
  • CLN4B disease
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Overview

Autosomal dominant neuronal ceroid lipofuscinosis 4B is a form of adult neuronal ceroid lipofuscinosis, which 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. Affected people generally experience behavioral abnormalities, dementia; difficulties with muscle coordination (ataxia); and involuntary movements such as tremors or tics. It can be caused by changes (mutations) in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant 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. 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 Autosomal dominant neuronal ceroid lipofuscinosis 4B. 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.

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 Autosomal dominant neuronal ceroid lipofuscinosis 4B. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Adult neuronal ceroid lipofuscinosis 4B
  • Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant
  • Ceroid lipofuscinosis, neuronal, Parry type
  • CLN4B
  • CLN4B 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.