NORD gratefully acknowledges Sara E. Mole, PhD, MRC Laboratory for Molecular Cell Biology, University College London, for assistance in the preparation of this report.
Adult neuronal ceroid lipofuscinosis (ANCL) is a general term for several rare genetic disorders that belong to a group of progressive, degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses (NCLs). These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Onset of ANCL is usually around the age of 30, but these disorders can occur during the teen-aged years or in people more than 50 years old. The NCLs as a group are characterized by abnormal accumulation of certain fatty, granular substances (i.e., pigmented lipids [lipopigments] ceroid and lipofuscin) within nerve cells (neurons) of the brain as well as other tissues of the body. This is accompanied by progressive deterioration (atrophy) of certain areas of the brain, neurological impairment, and other characteristic symptoms and physical findings. ANCL is sometimes called Kufs disease. Historically, Kufs disease was broken down into Type A or Type B. The ANCLs are caused by changes (mutations) in different genes and can have different signs and symptoms.
Before the identification of the underlying genes, the neuronal ceroid lipofuscinoses or NCLs were broken down by age of onset. Kufs disease was the name for the adult onset form. However, many researchers now feel that it is more appropriate to classify these disorders based upon the gene that is affected rather than by age of onset. Several genes that are known to cause neuronal ceroid lipofuscinoses can have the onset of symptoms in adulthood.
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