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

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.

journal_name

Neurobiol Aging

journal_title

Neurobiology of aging

authors

Sellami L,Rucheton B,Ben Younes I,Camuzat A,Saracino D,Rinaldi D,Epelbaum S,Azuar C,Levy R,Auriacombe S,Hannequin D,Pariente J,Barbier M,Boutoleau-Bretonnière C,Couratier P,Pasquier F,Deramecourt V,Sauvée M,Sarazin M

doi

10.1016/j.neurobiolaging.2020.02.014

subject

Has Abstract

pub_date

2020-07-01 00:00:00

pages

167.e1-167.e9

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(20)30047-6

journal_volume

91

pub_type

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