Ceroid lipofuscinosis neuronal 2
Other Names for this Disease
- Jansky-Bielschowsky disease
- Neuronal ceroid lipofuscinosis 2
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neuronal ceroid lipofuscinoses (NCLs). The NCLs are characterized by an abnormal accumulation of lipopigments, which are substances made up of fats and proteins within the brain’s nerve cells, eyes, skin, muscle, and other tissues throughout the body. CLN2 causes nerve cells, found in the brain, retina, and central nervous system, to die. Symptoms typically begin between ages 2 and 4. Early signs may include loss of muscle coordination (ataxia) and seizures that do not respond to drugs. This form progresses rapidly and ends in death between ages 8 and 12. The condition is caused by mutations in the CLN 2 gene which lead to deficient activity of the TPP1 enzyme.Ceroid lipofuscinosis, neuronal 2 (CLN2) / late infantile neuronal ceroid lipofuscinosis (LINCL) / Jansky-Bielschowsky / late infantile CLN2/TPP1 disorder is part of a group of progressive degenerative neurometabolic disorders known as the
Last updated: 7/15/2009
- Jansky-Bielschowsky/Late Infantile CLN2/TPP1 Disease. Hide & Seek Foundation for Lysosomal Disease Research. http://www.hideandseek.org/index.php?option=com_content&task=view&id=130. Accessed 7/15/2009.
- Batten Disease Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). 2009; http://www.ninds.nih.gov/disorders/batten/detail_batten.htm. Accessed 7/15/2009.
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- The Hide & Seek Foundation for Lysosomal Storage Disease Research provides information about ceroid lipofuscinosis, neuronal 2. Click on the link to view this information.
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- The 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.
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- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.