Kufs disease, adult NCL, gene

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The Neuronal Ceroid Lipofuscinoses (NCLs) are characterized by neuronal degeneration and the intracellular accumulation of autofluorescent ceroid lipopigments. Cases are clinically categorized by age of onset into infantile, late-infantile, juvenile, and adult NCL. The majority of NCLs present in infants and children and the genes accounting for most of the childhood-onset NCL have been identified. A small number of NCL cases present in adulthood as Kufs disease. In these cases the retina is not affected and vision is preserved. Arsov et al. analyzed four families with autosomal recessive inheritance patterns and consanguinity using genome-wide tagSNP genotyping. Causative mutations of Kufs type A disease were discovered in CLN6, a gene previously associated with Variant Late Infantile NCL. This finding can be useful in genetic diagnosis of patients with Kufs disease without biopsy and in our functional understanding of NCL pathology.  

Arsov T et al. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.  Am J Hum Genet. 2011 May 13;88(5):566-73.  http://www.ncbi.nlm.nih.gov/pubmed?term=21549341%5Buid%5D

 posted by Yannis Trakadis MD, MSc

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