no code implementations • 24 Jan 2022 • Fábio Carneiro, Dario Saracino, Vincent Huin, Fabienne Clot, Cécile Delorme, Aurélie Méneret, Stéphane Thobois, Florence Cormier, Jean Christophe Corvol, Timothée Lenglet, Marie Vidailhet, Marie-Odile Habert, Audrey Gabelle, Émilie Beaufils, Karl Mondon, Mélissa Tir, Daniela Andriuta, Alexis Brice, Vincent Deramecourt, Isabelle Le Ber
Subtle motor features, cognitive/behavioral changes, family history of dementia/ALS were suggestive clues for a genetic diagnosis.
no code implementations • 20 Nov 2020 • Vincent Huin, Mathieu Barbier, Armand Bottani, Johannes Lobrinus, Fabienne Clot, Foudil Lamari, Laureen Chat, Benoît Rucheton, Frédérique Fluchère, Stéphane Auvin, Peter Myers, Antoinette Gelot, Agnès Camuzat, Catherine Caillaud, Ludmila Jornéa, Sylvie Forlani, Dario Saracino, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Isabelle Le Ber
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.