Title :

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

Author(s) :

Sellami, Leila [Auteur]
Rucheton, Benoit [Auteur]
Ben Younes, Imen [Auteur]
Camuzat, Agnes [Auteur]
Saracino, Dario [Auteur]
Rinaldi, Daisy [Auteur]
Epelbaum, Stephane [Auteur]
Azuar, Carole [Auteur]
Levy, Richard [Auteur]
Auriacombe, Sophie [Auteur]
Hannequin, Didier [Auteur]
Pariente, Jeremie [Auteur]
Barbier, Mathieu [Auteur]
Boutoleau-Bretonniere, Claire [Auteur]
Couratier, Philippe [Auteur]
Pasquier, Florence [Auteur]

Lille Neurosciences & Cognition (LilNCog) - U 1172
Sauvee, Mathilde [Auteur]
Sarazin, Marie [Auteur]
Lagarde, Julien [Auteur]
Roue-Jagot, Carole [Auteur]
Forlani, Sylvie [Auteur]
Jornea, Ludmila [Auteur]
David, Isabelle [Auteur]
Leguern, Eric [Auteur]
Dubois, Bruno [Auteur]
Brice, Alexis [Auteur]
Clot, Fabienne [Auteur]
Lamari, Foudil [Auteur]
Le Ber, Isabelle [Auteur]
Deramecourt, Vincent [Auteur]
Excellence Laboratory LabEx DISTALZ
Lille Neurosciences & Cognition (LilNCog) - U 1172

Journal title :

Neurobiology of aging

Abbreviated title :

Neurobiol. Aging

Volume number :

91

Pages :

167.e1-167.e9

Publication date :

2020-02-21

ISSN :

1558-1497

Keyword(s) :

Plasma progranulin levels
Frontotemporal dementia
Frontotemporal lobar degeneration
C9orf72
Progranulin (GRN)

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

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 ...
Show more >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. Previous article in issueShow less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

CHU Lille
CNRS
Inserm
Université de Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172

Research team(s) :

Troubles cognitifs dégénératifs et vasculaires
Alzheimer et Tauopathies

Submission date :

2021-06-23T13:46:08Z
2021-08-30T13:27:08Z
2021-08-30T13:29:51Z
2025-04-14T12:07:24Z