Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression

Autor: Walid Khrouf, Dario Saracino, Benoit Rucheton, Marion Houot, Fabienne Clot, Daisy Rinaldi, Joana Vitor, Marie Huynh, Evelyne Heng, Dimitri Schlemmer, Florence Pasquier, Vincent Deramecourt, Sophie Auriacombe, Carole Azuar, Richard Levy, Stéphanie Bombois, Claire Boutoleau-Brétonnière, Jérémie Pariente, Mira Didic, David Wallon, Frédérique Fluchère, Stéphane Auvin, Imen Ben Younes, Yann Nadjar, Alexis Brice, Bruno Dubois, Dominique Bonnefont-Rousselot, Isabelle Le Ber, Foudil Lamari

Publikováno v: Neurobiology of Disease, Vol 181, Iss , Pp 106108- (2023)

GRN mutations are among the main genetic causes of frontotemporal dementia (FTD). Considering the progranulin involvement in lysosomal homeostasis, we aimed to evaluate if plasma lysosphingolipids (lysoSPL) are increased in GRN mutation carriers, and

Externí odkaz: https://doaj.org/article/74d41b87d2e9459a8fa3e729c04253b6

Frontotemporal dementia subtypes based on behavioral inhibition deficits

Autor: Valérie Godefroy, Delphine Tanguy, Arabella Bouzigues, Idil Sezer, Johan Ferrand‐Verdejo, Carole Azuar, David Bendetowicz, Guilhem Carle, Armelle Rametti‐Lacroux, Stéphanie Bombois, Emmanuel Cognat, Pierre Jannin, Xavier Morandi, Isabelle Le Ber, Richard Levy, Bénédicte Batrancourt, Raffaella Migliaccio

Publikováno v: Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 13, Iss 1, Pp n/a-n/a (2021)

Abstract Introduction We aimed to investigate phenotypic heterogeneity in the behavioral variant of frontotemporal dementia (bvFTD) through assessment of inhibition deficits. Methods We assessed occurrences of 16 behavioral inhibition deficits from v

Externí odkaz: https://doaj.org/article/2f2fcfd202664962b7cf6c3514accc5e

Moral emotions in neuropsychiatry : testing FTD and Schizophrenia patients with the MEA scale

Autor: Raphaëlle LEROUX AUGER, Stephane Mouchabac, Chloé Daigmorte, Thierry GALLARDA, Jessica Hamisultane, Carole Azuar

Publikováno v: Alzheimer's & Dementia. 18

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ed3c2eed312eb410358e7bf28565dcd0
https://doi.org/10.1002/alz.061330

Brain Metabolic Profile in Presymptomatic GRN Carriers Throughout a 5-Year Follow-up

Autor: Dario, Saracino, Leila, Sellami, Hugo, Boniface, Marion, Houot, Mélanie, Pélégrini-Issac, Aurélie, Funkiewiez, Daisy, Rinaldi, Maxime, Locatelli, Carole, Azuar, Valérie, Causse-Lemercier, Alice, Jaillard, Florence, Pasquier, Mathieu, Chastan, David, Wallon, Anne, Hitzel, Jeremie, Pariente, Amandine, Pallardy, Claire, Boutoleau-Bretonnière, Eric, Guedj, Mira, Didic, Raffaella, Migliaccio, Aurélie, Kas, Marie-Odile, Habert, Isabelle, Le Ber

Publikováno v: Neurology
Neurology, 2022, pp.10.1212/WNL.0000000000201439. ⟨10.1212/WNL.0000000000201439⟩

Background and ObjectivesGRNvariants are a frequent cause of familial frontotemporal dementia (FTD). Monitoring disease progression in asymptomatic carriers of genetic variants is a major challenge in delivering preventative therapies before clinical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99d485a83990d44e38f274115f49a6d1
https://pubmed.ncbi.nlm.nih.gov/36257714

Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders

Autor: Florence Pasquier, Mathieu Vandenbulcke, John R. Hodges, Mario Masellis, Alan J. Lerner, Chiadi U. Onyike, Yolande A.L. Pijnenburg, Wendy Kelso, Dennis Velakoulis, Fiona Kumfor, Carole Azuar, Robert Laforce, Peter Pressman, John C. van Swieten, Ratnavalli Ellajosyula, Jan Van den Stock, Calvin Trieu, Dhamidhu Eratne, Leonardo Cruz de Souza, Daniela Galimberti, Everard G. B. Vijverberg, Bradley F. Boeve, Maria Landqvist Waldö, Howard J. Rosen, Olivier Piguet, Rik Vandenberghe, Alexander Santillo, Annemiek Dols, Flora Gossink, Harro Seelaar, Ramon Landin-Romero, Mario F. Mendez, Elio Scarpini, Caroline Dallaire-Théroux, David C. Perry, Janine Diehl-Schmid, Simon Ducharme, Edward D. Huey, Michael Hornberger, Paulo Caramelli, Emma Devenney, Manabu Ikeda, Sandra Baez, Isabelle Le Ber, Richard Levy

Publikováno v: Ducharme, S, Dols, A, Laforce, R, Devenney, E, Kumfor, F, van den Stock, J, Dallaire-Théroux, C, Seelaar, H, Gossink, F, Vijverberg, E, Huey, E, Vandenbulcke, M, Masellis, M, Trieu, C, Onyike, C, Caramelli, P, de Souza, L C, Santillo, A, Waldö, M L, Landin-Romero, R, Piguet, O, Kelso, W, Eratne, D, Velakoulis, D, Ikeda, M, Perry, D, Pressman, P, Boeve, B, Vandenberghe, R, Mendez, M, Azuar, C, Levy, R, Le Ber, I, Baez, S, Lerner, A, Ellajosyula, R, Pasquier, F, Galimberti, D, Scarpini, E, van Swieten, J, Hornberger, M, Rosen, H, Hodges, J, Diehl-Schmid, J & Pijnenburg, Y 2020, ' Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders ', Brain : a journal of neurology, vol. 143, no. 6, pp. 1632-1650 . https://doi.org/10.1093/brain/awaa018
Brain
Brain : a journal of neurology, 143(6), 1632-1650
Brain : a journal of neurology, vol 143, iss 6
Brain, 143, 1632-1650. Oxford University Press

The behavioural variant of frontotemporal dementia (bvFTD) is a frequent cause of early-onset dementia. The diagnosis of bvFTD remains challenging because of the limited accuracy of neuroimaging in the early disease stages and the absence of molecula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::909d1d3fe244a5d2ee7b91c54cc55b57
https://doi.org/10.1093/brain/awaa018