Autosomal dominant neuronal ceroid lipofuscinosis 4B
Other Names for this Disease
- Kuf's disease, autosomal dominant
- Ceroid lipofuscinosis, neuronal, Parry type
- Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant
- Neuronal ceroid lipofuscinosis 4B
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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.Autosomal dominant neuronal ceroid lipofuscinosis 4B is a form of
Last updated: 8/31/2015
- Kufs disease. Genetics Home Reference. September 2013; http://ghr.nlm.nih.gov/condition/kufs-disease.
- Sara E Mole, PhD and Ruth E Williams, MD. Neuronal Ceroid-Lipofuscinoses. GeneReviews. August 2013; http://www.ncbi.nlm.nih.gov/books/NBK1428/.
- Celia H Chang, MD. Neuronal Ceroid Lipofuscinoses. Medscape Reference. December 14, 2015; http://emedicine.medscape.com/article/1178391-overview.
- Genetics Home Reference (GHR) contains information on Autosomal dominant neuronal ceroid lipofuscinosis 4B. This website is maintained by the National Library of Medicine.
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
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