Neuronal ceroid lipofuscinosis

Overview

What is neuronal ceroid lipofuscinosis?

The neuronal ceroid lipofuscinoses are a group of genetic disorders that affect the neurological system. There are several types of neuronal ceroid lipofuscinoses. All the types typically involve seizures and progressive decline, with the individual losing their cognitive and motor abilities. The majority of the types also include progressive vision loss. All the types involve part of the cell called lysosomes. Lysosomes are parts of our cells responsible for digestion and clearing out waste materials.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/neuronal-ceroid-lipofuscinosis/overview/18959 • DATE UPDATED: 2016-06-09

References

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.

Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 256730 5/18/2016: . World Wide Web URL: http://omim.org/

Batten Disease Support and Research Association. What is Batten Disease? http://bdsra.org/what-is-batten-disease/

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