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Grant support

We are grateful to the participants of this study for their cooperation. The authors are indebted to Teresa Botta-Orfila and Rosa Ma Alvarez for excellent technical assistance. This work was supported by grants to Dr Raquel Sanchez-Valle (FIS080036. ISCIII. Cofinancia FEDER. Union Europea. Otra manera de hacer Europa), to Dr Jose Luis Molinuevo (CSD2010-00045), and to Dr Albert Llado (PI11/00234. ISCIII. Cofinancia FEDER. Union Europea. Otra manera de hacer Europa).

Analysis of institutional authors

Fernández Sánchez, ManuelAuthorAntonell, AAuthorGil, SAuthorSanchez-Valle, RAuthorBalasa, MAuthorBosch, BAuthorFernandez, MAuthorYague, JAuthorMolinuevo, JlAuthorLlado, ACorresponding Author

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Article

Serum Progranulin Levels in Patients with Frontotemporal Lobar Degeneration and Alzheimer's Disease: Detection of GRN Mutations in a Spanish Cohort

Publicated to:Journal Of Alzheimers Disease. 31 (3): 581-591 - 2012-01-01 31(3), DOI: 10.3233/JAD-2012-112120

Authors: Antonell, A; Gil, S; Sánchez-Valle, R; Balasa, M; Bosch, B; Chiollaz, AC; Fernández, M; Molinuevo, JL; Lladó, A; Prat, MC; Yagüe, J

Affiliations

- Author
Alzheimer's Disease and other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Barcelona, Spain. - Author
Consorci Sanitari Parc Tauli, Cognit Disorders Unit, Sabadell, Spain - Author
Hosp Clin Barcelona, Inst Invest Biomed August Pi & Sunyer IDIBAPS, Alzheimers Dis & Other Cognit Disorders Unit, Neurol Serv, Barcelona 08036, Spain - Author
Hosp Clin Barcelona, Inst Recerca Biomed August Pi & Sunyer IDIBAPS, Dept Immunol, Barcelona, Spain - Author
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Abstract

Progranulin gene (GRN) mutations cause frontotemporal lobar degeneration (FTLD) with TDP43-positive inclusions, although its clinical phenotype is heterogeneous and includes patients classified as behavioral variant-FTLD (bvFTLD), progressive non-fluent aphasia (PNFA), corticobasal syndrome, Alzheimer's disease (AD), or Parkinson's disease (PD). Our main objective was to study if low serum progranulin protein (PGRN) levels may detect GRN mutations in a Spanish cohort of patients with FTLD or AD. Serum PGRN levels were measured in 112 subjects: 17 bvFTLD, 20 PNFA, 4 semantic dementia, 34 sporadic AD, 9 AD-PSEN1 mutation carriers, 10 presymptomatic-PSEN1 mutation carriers, and 18 control individuals. We detected 5 patients with PGRN levels below 94 ng/mL: two of them had a clinical diagnosis of bvFTLD, two of PNFA, and one of AD. The screening for GRN mutations detected two probable pathogenic mutations (p.C366fsX1 and a new mutation: p.V279GfsX5) in three patients and one mutation of unclear pathogenic nature (p.C139R) in one patient. The other patient showed a normal GRN sequence but carried a PRNP gene mutation. We observed no differences in serum PGRN levels between controls (mean = 145.5 ng/mL, SD = 28.5) and the other neurodegenerative diseases, except for the carriers of pathological GRN gene mutations (mean = 50.5 ng/mL, SD = 21.2). Null GRN mutation carriers also showed lower serum PGRN levels than the patient who was a carrier of p.C139R (92.3 ng/mL) and the one who was a carrier of the PRNP mutation (76.9 ng/mL). In conclusion, we detected GRN null mutations in patients with severely reduced serum PGRN levels, but not in patients with slightly reduced PGRN levels.

Keywords

AgedAged, 80 and overAlzheimer diseaseAlzheimer's diseaseAssociationBiomarkerBiomarkersBloodCohort studiesDeclineDeletioDementiaExon skippingExpressionFemaleFrameshiftFrontotemporal lobar degenerationGeneGrn protein, humanHexanucleotide repeatHumansIntercellular signaling peptides and proteinsMaleMiddle agedMissenseMutationNetherlandsPrevalenceProgranulinProgranulinsSerumSpainSplicinSplicingTauVariability

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Journal Of Alzheimers Disease due to its progression and the good impact it has achieved in recent years, according to the agency Scopus (SJR), it has become a reference in its field. In the year of publication of the work, 2012, it was in position , thus managing to position itself as a Q1 (Primer Cuartil), in the category Medicine (Miscellaneous). Notably, the journal is positioned above the 90th percentile.

From a relative perspective, and based on the normalized impact indicator calculated from the Field Citation Ratio (FCR) of the Dimensions source, it yields a value of: 3.01, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: Dimensions Jun 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-06-26, the following number of citations:

  • WoS: 27
  • Scopus: 30
  • Europe PMC: 22
  • OpenCitations: 30

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-06-26:

  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 64 (PlumX).

Leadership analysis of institutional authors

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: First Author (Antonell Boixader, Anna) and Last Author (Lladó Plarrumaní, Albert).

the author responsible for correspondence tasks has been Lladó Plarrumaní, Albert.