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 Agingjournal_title
Neurobiology of agingauthors
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 Mdoi
10.1016/j.neurobiolaging.2020.02.014subject
Has Abstractpub_date
2020-07-01 00:00:00pages
167.e1-167.e9eissn
0197-4580issn
1558-1497pii
S0197-4580(20)30047-6journal_volume
91pub_type
杂志文章abstract::Recently, two large, and independent genome wide association studies of late-onset Alzheimer's disease (AD) established association with the same rs11136000 variation in the clusterin (CLU) gene. In addition, one variation, rs3851179, in the phosphatidylinositol binding clathrin assembly protein (PICALM) gene and one ...
journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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pub_type: 临床试验,杂志文章
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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doi:10.1016/s0197-4580(88)80010-1
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/0197-4580(91)90091-w
更新日期:1991-09-01 00:00:00
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
pub_type: 杂志文章
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journal_title:Neurobiology of aging
pub_type: 杂志文章
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journal_title:Neurobiology of aging
pub_type: 杂志文章
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
pub_type: 杂志文章
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journal_title:Neurobiology of aging
pub_type: 杂志文章,评审
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