Neuronal ceroid lipofuscinosis
How are the neuronal ceroid lipofuscinoses inherited?
The majority of neuronal ceroid lipofuscinoses are inherited in an autosomal recessive manner. We each have two copies of almost every gene. Autosomal recessive inheritance means that a person needs to have changes, or mutations, in both copies of a gene in order to have the condition. The parents of someone with an autosomal recessive condition, like most types of the neuronal ceroid lipofuscinoses, are carriers for the condition. A carrier is someone who has one changed copy of a gene, and one copy with no changes that functions typically. A carrier of an autosomal recessive disease typically shows no signs or symptoms of the condition. A carrier of one of the neuronal ceroid lipofuscinoses would have no way of knowing he or she was a carrier. When two carriers of the same disease have a child, there is a 1 in 4, or 25%, chance that child will inherit both genes that have the mutation and have the disease.
Adult-onset neuronal ceroid lipofuscinosis may be inherited in an autosomal recessive manner, but it may also be inherited in a way called autosomal dominant. Autosomal dominant inheritance means that a person only needs to have a change, or mutation, to one copy of that gene to have the condition. Often, someone with an autosomal dominant condition has a parent with that condition. Someone with the autosomal dominant form of neuronal ceroid lipofuscinosis has a 50% chance to pass the condition on to their children.
- Mole, SE, Williams, RE. (Updated 1 August 2013). Neuronal Ceroid-Lipfuscinoses. In: GeneReviews (database online). Copyright, University of Washington, Seattle. 1993-2016. Available at http://www.ncbi.nlm.nih.gov/books/NBK1428/. Accessed 4 June 2016.
- Batten Disease Family Association. "About Batten Disease" http://www.bdfa-uk.org.uk/about-batten-disease/