Article
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
American journal of human genetics - 13 May 2011
Arsov Todor, Smith Katherine R, Damiano John, Franceschetti Silvana, Canafoglia Laura, Bromhead Catherine J, Andermann Eva, Vears Danya F, Cossette Patrick, Rajagopalan Sulekha, McDougall Alan, Sofia Vito, Farrell Michael, Aguglia Umberto, Zini Andrea, Meletti Stefano, Morbin Michela, Mullen Saul, Andermann Frederick, Mole Sara E, Bahlo Melanie, Berkovic Samuel F
Abstract excerpt
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...
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