Article
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
Human mutation - 1 May 2009
Lebrun Anne-Hélène, Storch Stephan, Rüschendorf Franz, Schmiedt Mia-Lisa, Kyttälä Aija, Mole Sara E, Kitzmüller Claudia, Saar Kathrin, Mewasingh Leena D, Boda Volker, Kohlschütter Alfried, Ullrich Kurt, Braulke Thomas, Schulz Angela
Abstract excerpt
The neuronal ceroid lipofuscinoses (NCLs) form a group of autosomal recessively inherited neurodegenerative disorders that mainly affect children. Ten NCL forms can be distinguished by age at onset, clinicopathologic features, and genetics. In eight of these forms, the underlying genes have been identified. At present, approximately 10% of all patients do not fall into one of the eight known genetic forms of NCL....
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