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Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

✍ Scribed by Todor Arsov; Katherine R. Smith; John Damiano; Silvana Franceschetti; Laura Canafoglia; Catherine J. Bromhead; Eva Andermann; Danya F. Vears; Patrick Cossette; Sulekha Rajagopalan; Alan McDougall; Vito Sofia; Michael Farrell; Umberto Aguglia; Andrea Zini; Stefano Meletti; Michela Morbin; Saul Mullen; Frederick Andermann; Sara E. Mole; Melanie Bahlo; Samuel F. Berkovic


Book ID
113423029
Publisher
American Society of Human Genetics
Year
2011
Tongue
English
Weight
333 KB
Volume
88
Category
Article
ISSN
0002-9297

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The neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of autosomal recessive neurodegenerative diseases comprising Batten and other related diseases plus numerous variants. They are characterized by progressive neuronal cell death. The CLN6 gene was recently identified, mutations in wh