Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

ABSTRACT: The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been identified. Diagnosis of Kufs disease is difficult because the characteristic lipopigment is largely confined to neurons and can require a brain biopsy or autopsy for final diagnosis. We mapped four families with Kufs disease for whom there was good evidence of autosomal-recessive inheritance and found two peaks on chromosome 15. Three of the families were affected by Kufs type A disease and presented with progressive myoclonus epilepsy, and one was affected by type B (presenting with dementia and motor system dysfunction). Sequencing of a candidate gene in one peak shared by all four families identified no mutations, b

SUBMITTER: Arsov T 

PROVIDER: S-EPMC3146726 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature