Adult neuronal ceroid lipofuscinosis
Other Names for this Disease
- Adult NCL
- CLN4 disease, adult autosomal dominant
- Hagberg-Santavuori disease
- Autosomal recessive neuronal ceroid lipofuscinosis 4A
- Neuronal ceroid lipofuscinosis
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 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.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.
Last updated: 11/29/2012
- Kufs disease. Genetics Home Reference. September 2010; http://ghr.nlm.nih.gov/condition/kufs-disease. Accessed 11/29/2012.
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- CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT. OMIM. October 21, 2011; http://omim.org/entry/162350. Accessed 11/29/2012.
- Mole SE, Williams RE. Neuronal Ceroid-Lipofuscinoses. GeneReviews. March 2, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1428/. Accessed 11/29/2012.
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