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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, 7 Didier Hannequin 8 Jérémie Pariente 9, 10 Mathieu Barbier 2 Claire Boutoleau-Bretonnière 11 Philippe Couratier 12, 13 Florence Pasquier Vincent Deramecourt 14 Mathilde Sauvee 15 Marie Sarazin 2 Julien Lagarde Carole Roué-Jagot Sylvie Forlani 16 Ludmila Jornea 1 Isabelle David Eric Leguern 17 Bruno Dubois 5 Alexis Brice 16 Fabienne Clot 16 Foudil Lamari 3 Isabelle Le Ber 16, * 
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.
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https://hal-unilim.archives-ouvertes.fr/hal-02870179
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Soumis le : lundi 22 août 2022 - 11:37:42
Dernière modification le : jeudi 24 novembre 2022 - 04:06:43
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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, 2020, 91, pp.167.e1-167.e9. ⟨10.1016/j.neurobiolaging.2020.02.014⟩. ⟨hal-02870179⟩

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