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. September 2013; http://emedicine.medscape.com/article/1178391-overview.
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