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NCL Resource


Address

c/o Sara E Mole PhD
MRC Laboratory for Molecular Cell Biology
University College London, London WC1E 6BT United Kingdom

Phone

442076797257

Description

The NCL Resource maintains a web site that serves as a gateway for clinicians, families, researchers and those offering professional support who have an interest in or are affected by Batten disease. Information about this disease can be accessed via four main routes and includes the NCL Mutation Database, established in 1998. Batten disease, a rare genetic disorder, belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Batten disease is sometimes considered the juvenile form of the neuronal ceroid lipofuscinoses (NCLs). The NCLs 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 that may result in progressive deterioration (atrophy) of certain areas of the brain, neurological impairment, and other characteristic symptoms and physical findings.

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