Article
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Brain : a journal of neurology - 1 Jan 2020
Huin Vincent, Barbier Mathieu, Bottani Armand, Lobrinus Johannes Alexander, Clot Fabienne, Lamari Foudil, Chat Laureen, Rucheton Benoît, Fluchère Frédérique, Auvin Stéphane, Myers Peter, Gelot Antoinette, Camuzat Agnès, Caillaud Catherine, Jornéa Ludmila, Forlani Sylvie, Saracino Dario, Duyckaerts Charles, Brice Alexis, Durr Alexandra, Le Ber Isabelle
Abstract excerpt
Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognitive disorders, usually beginning between 13 and 25 years of age. This is a rare condition, previously reported in only four families. In contrast, heterozygous GRN mutations are a major...
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