Motor neuron pathology in CANVAS due to RFC1 expansions

no code implementations • 25 Jan 2022 • Vincent Huin, Giulia Coarelli, Clément Guemy, Susana Boluda, Rabab Debs, Fanny Mochel, Tanya Stojkovic, David Grabli, Thierry Maisonobe, Bertrand Gaymard, Timothée Lenglet, Céline Tard, Jean-Baptiste Davion, Bernard Sablonnière, Marie-Lorraine Monin, Claire Ewenczyk, Karine Viala, Perrine Charles, Isabelle Le Ber, Mary Reilly, Henry Houlden, Andrea Cortese, Danielle Seilhean, Alexis Brice, Alexandra Durr

Motor neuron involvement was found for 24 of 38 patients (63. 1%).

Hippocampus

Image Collation: Matching illustrations in manuscripts

no code implementations • 18 Aug 2021 • Ryad Kaoua, Xi Shen, Alexandra Durr, Stavros Lazaris, David Picard, Mathieu Aubry

For an historian, the first step in studying their evolution in a corpus of similar manuscripts is to identify which ones correspond to each other.

Reply: Early-onset phenotype of bi-allelic GRN mutations

no code implementations • 20 Jan 2021 • Vincent Huin, Mathieu Barbier, Alexandra Durr, Isabelle Le Ber

We would like to reply to Neuray et al. who report a series of five new patients from four unrelated families with bi-allelic mutations of GRN.

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

no code implementations • 21 Nov 2020 • Jérôme Delplanque, David Devos, Vincent Huin, Alexandre Genet, Olivier Sand, Caroline Moreau, Cyril Goizet, Perrine Charles, Mathieu Anheim, Marie Lorraine Monin, Luc Buée, Alain Destée, Guillaume Grolez, Christine Delmaire, Kathy Dujardin, Delphine Dellacherie, Alexis Brice, Giovanni Stevanin, Isabelle Strubi-Vuillaume, Alexandra Durr, Bernard Sablonnière

This ataxia was firstly characterized in a large French family with slowly progressive cerebellar ataxia, accompanied by severe cognitive impairment and mental retardation in two young children.

Homozygous GRN mutations: unexpected phenotypes and new insights into pathological and molecular mechanisms

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.