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Adult neuronal ceroid lipofuscinosis
Other Names for this Disease
- Adult NCL
- Kuf's disease
- Neuronal ceroid lipofuscinosis 4
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Adult neuronal ceroid lipofuscinosis is a disorder of the nervous system. Symptoms usually begin before age 40 and include movement disorders, seizures, dementia, and speech problems. Unlike other forms of neuronal ceroid lipofuscinosis, the adult form does not cause blindness. There are two forms of adult neuronal ceroid lipofuscinosis. Type A is caused by mutations in the CLN6 gene and is inherited in an autosomal recessive pattern. Type B can be caused by mutations in the DNAJC5 gene and is inherited in an autosomal dominant pattern. Treatment options for adult neuronal ceroid lipofuscinosis are limited to therapies that can help relieve some of the symptoms.
- Kufs disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/kufs-disease. Accessed November 29, 2012.
- CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE. OMIM. http://omim.org/entry/204300. Accessed November 29, 2012.
- CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT. OMIM. http://omim.org/entry/162350. Accessed November 29, 2012.
- Mole SE, Williams RE. Neuronal Ceroid-Lipofuscinoses. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1428/. Accessed November 29,2012.
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