Accéder directement au contenu Accéder directement à la navigation
Article dans une revue

Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience

Leila Sellami 1, 2 Benoit Rucheton 3 Imen Ben Younes 3 Agnès Camuzat 4 Dario Saracino 1 Daisy Rinaldi 2 Stéphane Epelbaum 1 Carole Azuar 5 Richard Levy 2 Sophie Auriacombe 6 Didier Hannequin 7 Jérémie Pariente 8, 9 Mathieu Barbier 2 Claire Boutoleau-Bretonnière 10 Philippe Couratier 11, 12 Florence Pasquier Vincent Deramecourt 13 Mathilde Sauvee 14 Marie Sarazin 2 Julien Lagarde Carole Roué-Jagot Sylvie Forlani 15 Ludmila Jornea 1 Isabelle David Eric Leguern 16 Bruno Dubois 17 Alexis Brice 15 Fabienne Clot 15 Foudil Lamari 3 Isabelle Le Ber 15, *
Abstract : GRN mutations are frequent causes of familial frontotemporal degeneration. Although there is no clear consensual threshold, plasma progranulin levels represent an efficient biomarker for predicting GRN mutations when decreased. We evaluated plasma levels to determine whether it could also predict age at onset, clinical phenotype, or disease progression in 160 GRN carriers. Importantly, progranulin levels were influenced by gender, with lower levels in male than in female patients in our study. Although we found no correlation with age at onset or with clinical phenotype, we confirmed that decreased level predicts GRN mutations, even in presymptomatic carriers more than four decades before disease onset. We also provided first evidence for the stability of levels throughout longitudinal trajectory in carriers, over a 4-year time span. Finally, we confirmed that progranulin levels constitute a reliable, cost-effective marker, suitable as a screening tool in patients with familial frontotemporal degeneration, and more broadly in patients without family history or with atypical presentations who are less likely to be referred for molecular diagnosis.
Type de document :
Article dans une revue
Liste complète des métadonnées

https://hal-unilim.archives-ouvertes.fr/hal-02870179
Contributeur : Elisabeth Grelier <>
Soumis le : mardi 16 juin 2020 - 15:19:56
Dernière modification le : mardi 1 septembre 2020 - 03:21:24

Lien texte intégral

Identifiants

Citation

Leila Sellami, Benoit Rucheton, Imen Ben Younes, Agnès Camuzat, Dario Saracino, et al.. Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience. Neurobiology of Aging, Elsevier, 2020, 91, pp.167.e1-167.e9. ⟨10.1016/j.neurobiolaging.2020.02.014⟩. ⟨hal-02870179⟩

Partager

Métriques

Consultations de la notice

44