{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T20:03:47Z","timestamp":1790712227056,"version":"4.1.0"},"reference-count":43,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2025,11,15]],"date-time":"2025-11-15T00:00:00Z","timestamp":1763164800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Genetic factors play an important role in frontotemporal lobar degeneration (FTLD), with about 20 genes reported to be involved. Although it is known that genetic diagnostic yield depends on age at onset, clinical subtype and family history, there are no precise indication criteria for a cost-effective and efficient strategy in a clinical setting. We report the molecular diagnostic experience in a French clinical laboratory in a large cohort of 2747 probands with sporadic or familial FTLD.<\/jats:p>\n                  <jats:p>We used a three-step genetic screening strategy. First, plasma progranulin was measured in all cases (n = 2747), followed by screening for GRN when plasma progranulin was below the threshold. If GRN screening was negative, the second step was to investigate the G4C2 repeat expansion in C9orf72 (n = 2675). In a third step, targeted sequencing of 14 FTLD genes was performed in 1279 individuals depending on age at onset and family history.<\/jats:p>\n                  <jats:p>The diagnostic yield of this strategy was 12.2% (n = 334). GRN (n = 73) and C9orf72 (n = 200) represented 81.7% of genetic diagnoses. The diagnostic yield of the panel sequencing was 4.8% (62\/1279). Family history was the strongest factor related to genetic diagnosis, with four to five times more genetic diagnoses in cases with a family history of FTLD (32.1%) compared with sporadic cases (7.2%). However, the clinical presentation was not significantly associated with a genetic mutation, the behavioural variant of frontotemporal dementia (bvFTD) associated with amyotrophic lateral sclerosis (FTD\/ALS), or not produced at a higher diagnostic yield (15.5% and 13.3%, respectively) than the primary progressive aphasia subgroup (9.9% for semantic variant and 8.8% for non-fluent variant) and others (8.3% and 4.2% for progressive supranuclear palsy and corticobasal syndrome, respectively). Interestingly, the genetic distribution varied greatly between clinical subtypes. FTD\/ALS and bvFTD were mostly driven by C9orf72 (82.1% and 63.5%, respectively). In contrast, GRN was shown to be the dominant gene in nfvPPA (41.2%). C9orf72, MAPT, GRN and TBK1 equally contributed to svPPA (around 20% each).<\/jats:p>\n                  <jats:p>These results allow us to show the phenotype-genotype architecture of FTLD and to provide data to establish a cost-effective genetic diagnostic strategy in clinical settings for FTLD.<\/jats:p>","DOI":"10.1093\/brain\/awaf423","type":"journal-article","created":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T13:05:09Z","timestamp":1763039109000},"page":"2438-2448","source":"Crossref","is-referenced-by-count":1,"title":["The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands"],"prefix":"10.1093","volume":"149","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3505-7114","authenticated-orcid":false,"given":"Guillaume","family":"Cogan","sequence":"first","affiliation":[{"name":"AP-HP Sorbonne Universit\u00e9, D\u00e9partement de g\u00e9n\u00e9tique m\u00e9dicale, UF de Neurog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75 000 ,","place":["France"]},{"name":"Sorbonne Universit\u00e9, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, AP-HP, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Houot","sequence":"additional","affiliation":[{"name":"Centre of Excellence of Neurodegenerative Disease (CoEN), AP-HP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital , Paris 75 000 ,","place":["France"]},{"name":"AP-HP, Centre des d\u00e9mences rares ou pr\u00e9coces, IM2A, D\u00e9partement de Neurologie, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75 000 ,","place":["France"]},{"name":"Clinical Investigation Centre, Institut du Cerveau (ICM), Piti\u00e9-Salp\u00eatri\u00e8re Hospital , Paris 75 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Bogoin","sequence":"additional","affiliation":[{"name":"AP-HP Sorbonne Universit\u00e9, D\u00e9partement de g\u00e9n\u00e9tique m\u00e9dicale, UF de Neurog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine","family":"No\u00ebl","sequence":"additional","affiliation":[{"name":"AP-HP Sorbonne Universit\u00e9, D\u00e9partement de g\u00e9n\u00e9tique m\u00e9dicale, UF de Neurog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy","family":"Larcher","sequence":"additional","affiliation":[{"name":"AP-HP Sorbonne Universit\u00e9, D\u00e9partement de g\u00e9n\u00e9tique m\u00e9dicale, UF de Neurog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"David","sequence":"additional","affiliation":[{"name":"AP-HP Sorbonne Universit\u00e9, D\u00e9partement de g\u00e9n\u00e9tique m\u00e9dicale, UF de Neurog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Moreau","sequence":"additional","affiliation":[{"name":"AP-HP Sorbonne Universit\u00e9, D\u00e9partement de g\u00e9n\u00e9tique m\u00e9dicale, UF de Neurog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merieme","family":"Bensalah","sequence":"additional","affiliation":[{"name":"AP-HP Sorbonne Universit\u00e9, D\u00e9partement de g\u00e9n\u00e9tique m\u00e9dicale, UF de Neurog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Laure","family":"Fauret-Amsellem","sequence":"additional","affiliation":[{"name":"AP-HP Sorbonne Universit\u00e9, D\u00e9partement de g\u00e9n\u00e9tique m\u00e9dicale, UF de Neurog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Foudil","family":"Lamari","sequence":"additional","affiliation":[{"name":"AP-HP Sorbonne Universit\u00e9, Service de Biochimie M\u00e9tabolique, UF Biochimie des Maladies Neurom\u00e9taboliques et Neurod\u00e9g\u00e9n\u00e9ratives, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walid","family":"Khrouf","sequence":"additional","affiliation":[{"name":"AP-HP Sorbonne Universit\u00e9, Service de Biochimie M\u00e9tabolique, UF Biochimie des Maladies Neurom\u00e9taboliques et Neurod\u00e9g\u00e9n\u00e9ratives, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9rique","family":"Etcharry-Bouyx","sequence":"additional","affiliation":[{"name":"CMRR, CRMR Neurog\u00e9n\u00e9tique, Service de Neurologie, CHU d'ANGERS , Angers 49 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mira","family":"Didic","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, INSERM, INS, Inst Neurosci Syst , Marseille 13 000 ,","place":["France"]},{"name":"APHM, Timone, Service de Neurologie et Neuropsychologie, APHM H\u00f4pital Timone Adultes , Marseille 13 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Lagarde","sequence":"additional","affiliation":[{"name":"Department of Neurology of Memory and Language, GHU Paris Psychiatrie & Neurosciences, H\u00f4pital Sainte Anne , Paris F-75014 ,","place":["France"]},{"name":"Universit\u00e9 Paris-Cit\u00e9 , Paris F-75006 ,","place":["France"]},{"name":"Universit\u00e9 Paris-Saclay, BioMaps, Service Hospitalier Fr\u00e9d\u00e9ric Joliot CEA, CNRS, Inserm , Orsay F-91401 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole Rou\u00e9","family":"Jagot","sequence":"additional","affiliation":[{"name":"Department of Neurology of Memory and Language, GHU Paris Psychiatrie & Neurosciences, H\u00f4pital Sainte Anne , Paris F-75014 ,","place":["France"]},{"name":"Universit\u00e9 Paris-Cit\u00e9 , Paris F-75006 ,","place":["France"]},{"name":"Universit\u00e9 Paris-Saclay, BioMaps, Service Hospitalier Fr\u00e9d\u00e9ric Joliot CEA, CNRS, Inserm , Orsay F-91401 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Sarazin","sequence":"additional","affiliation":[{"name":"Department of Neurology of Memory and Language, GHU Paris Psychiatrie & Neurosciences, H\u00f4pital Sainte Anne , Paris F-75014 ,","place":["France"]},{"name":"Universit\u00e9 Paris-Cit\u00e9 , Paris F-75006 ,","place":["France"]},{"name":"Universit\u00e9 Paris-Saclay, BioMaps, Service Hospitalier Fr\u00e9d\u00e9ric Joliot CEA, CNRS, Inserm , Orsay F-91401 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Boutoleau-Bretonniere","sequence":"additional","affiliation":[{"name":"CHU Nantes, Memory Center, Inserm CIC4 , Nantes 44093 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9880-9788","authenticated-orcid":false,"given":"Florence","family":"Pasquier","sequence":"additional","affiliation":[{"name":"CHU, CNR-MAJ, Labex Distalz, LiCEND Lille , Lille 59000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Bombois","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurologie, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re, AP-HP Sorbonne Universit\u00e9, Institute of Memory and Alzheimer's Disease , Paris 75 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Auriacombe","sequence":"additional","affiliation":[{"name":"Univ. Bordeaux, CNRS UMR 5293, Institut des Maladies Neurod\u00e9g\u00e9n\u00e9ratives , Bordeaux 33 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremie","family":"Pariente","sequence":"additional","affiliation":[{"name":"Neurology Department, H\u00f4pital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse , Toulouse 31 000 ,","place":["France"]},{"name":"Toulouse NeuroImaging Center (ToNIC), INSERM-University of Toulouse Paul Sabatier , Toulouse 31 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annabelle","family":"Chaussenot","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, CHU of Nice , Nice 06000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Levy","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, AP-HP, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2634-7198","authenticated-orcid":false,"given":"David","family":"Wallon","sequence":"additional","affiliation":[{"name":"Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ , Rouen F-76000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aline","family":"Zarea","sequence":"additional","affiliation":[{"name":"Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ , Rouen F-76000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Le Ber","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, AP-HP, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"LeGuern","sequence":"additional","affiliation":[{"name":"AP-HP Sorbonne Universit\u00e9, D\u00e9partement de g\u00e9n\u00e9tique m\u00e9dicale, UF de Neurog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75 000 ,","place":["France"]},{"name":"Sorbonne Universit\u00e9, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, AP-HP, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabienne","family":"Clot","sequence":"additional","affiliation":[{"name":"AP-HP Sorbonne Universit\u00e9, D\u00e9partement de g\u00e9n\u00e9tique m\u00e9dicale, UF de Neurog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris 75 000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,11,15]]},"reference":[{"key":"2026070619572860600_awaf423-B1","doi-asserted-by":"crossref","first-page":"a033118","DOI":"10.1101\/cshperspect.a033118","article-title":"Clinical neurology and epidemiology of the major neurodegenerative diseases","volume":"10","author":"Erkkinen","year":"2018","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"2026070619572860600_awaf423-B2","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1001\/jamaneurol.2022.5128","article-title":"Incidence of syndromes associated with frontotemporal lobar degeneration in 9 European countries","volume":"80","author":"Logroscino","year":"2023","journal-title":"JAMA Neurol"},{"key":"2026070619572860600_awaf423-B3","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1111\/nan.12526","article-title":"Review: Neuropathology of non-tau frontotemporal lobar degeneration","volume":"45","author":"Neumann","year":"2019","journal-title":"Neuropathol Appl Neurobiol"},{"key":"2026070619572860600_awaf423-B4","doi-asserted-by":"crossref","first-page":"5673","DOI":"10.1007\/s12035-022-02934-z","article-title":"Recent updates on the genetics of amyotrophic lateral sclerosis and frontotemporal dementia","volume":"59","author":"Kirola","year":"2022","journal-title":"Mol Neurobiol"},{"key":"2026070619572860600_awaf423-B5","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1212\/WNL.0b013e31821103e6","article-title":"Classification of primary progressive aphasia and its variants","volume":"76","author":"Gorno-Tempini","year":"2011","journal-title":"Neurology"},{"key":"2026070619572860600_awaf423-B6","doi-asserted-by":"crossref","first-page":"2456","DOI":"10.1093\/brain\/awr179","article-title":"Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia","volume":"134","author":"Rascovsky","year":"2011","journal-title":"Brain"},{"key":"2026070619572860600_awaf423-B7","doi-asserted-by":"crossref","first-page":"1364","DOI":"10.1212\/CON.0000000000001158","article-title":"Progressive supranuclear palsy and corticobasal syndrome","volume":"28","author":"Pantelyat","year":"2022","journal-title":"Continuum (Minneap Minn)"},{"key":"2026070619572860600_awaf423-B8","doi-asserted-by":"crossref","first-page":"913","DOI":"10.3233\/JAD-170702","article-title":"Role of genetics and epigenetics in the pathogenesis of Alzheimer\u2019s disease and frontotemporal dementia","volume":"62","author":"Fenoglio","year":"2018","journal-title":"J Alzheimers Dis."},{"key":"2026070619572860600_awaf423-B9","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1111\/jnc.13622","article-title":"Genetics of FTLD: Overview and what else we can expect from genetic studies","volume":"138 Suppl 1","author":"Pottier","year":"2016","journal-title":"J Neurochem"},{"key":"2026070619572860600_awaf423-B10","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1212\/WNL.0b013e31827f0fd1","article-title":"Criteria for the diagnosis of corticobasal degeneration","volume":"80","author":"Armstrong","year":"2013","journal-title":"Neurology"},{"key":"2026070619572860600_awaf423-B11","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/j.clinph.2007.09.143","article-title":"Electrodiagnostic criteria for diagnosis of ALS","volume":"119","author":"de Carvalho","year":"2008","journal-title":"Clin Neurophysiol"},{"key":"2026070619572860600_awaf423-B12","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1080\/146608200300079536","article-title":"World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis","volume":"1","author":"Brooks","year":"2000","journal-title":"Amyotroph Lateral Scler Mot Neuron Disord"},{"key":"2026070619572860600_awaf423-B13","doi-asserted-by":"crossref","first-page":"167.e1","DOI":"10.1016\/j.neurobiolaging.2020.02.014","article-title":"Plasma progranulin levels for frontotemporal dementia in clinical practice: A 10-year French experience","volume":"91","author":"Sellami","year":"2020","journal-title":"Neurobiol Aging"},{"key":"2026070619572860600_awaf423-B14","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1007\/s00415-024-12758-7","article-title":"Two novel variants in GRN: The relevance of CNV analysis and genetic screening in FTLD patients with a negative family history","volume":"272","author":"De Houwer","year":"2024","journal-title":"J Neurol"},{"key":"2026070619572860600_awaf423-B15","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1212\/WNL.0b013e31820a0e3b","article-title":"TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers","volume":"76","author":"Finch","year":"2011","journal-title":"Neurology"},{"key":"2026070619572860600_awaf423-B16","doi-asserted-by":"crossref","first-page":"eadf9735","DOI":"10.1126\/scitranslmed.adf9735","article-title":"TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia","volume":"16","author":"Marks","year":"2024","journal-title":"Sci Transl Med"},{"key":"2026070619572860600_awaf423-B17","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.neuron.2011.09.010","article-title":"A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD","volume":"72","author":"Renton","year":"2011","journal-title":"Neuron"},{"key":"2026070619572860600_awaf423-B18","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1080\/13543784.2024.2349286","article-title":"Frontotemporal dementia: From genetics to therapeutic approaches","volume":"33","author":"Buccellato","year":"2024","journal-title":"Expert Opin Investig Drugs"},{"key":"2026070619572860600_awaf423-B19","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"2026070619572860600_awaf423-B20","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1038\/nature05016","article-title":"Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17","volume":"442","author":"Baker","year":"2006","journal-title":"Nature"},{"key":"2026070619572860600_awaf423-B21","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1007\/s10048-024-00766-8","article-title":"Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade memory center","volume":"25","author":"Stefanova","year":"2024","journal-title":"Neurogenetics"},{"key":"2026070619572860600_awaf423-B22","doi-asserted-by":"crossref","first-page":"e0202149","DOI":"10.1371\/journal.pone.0202149","article-title":"Association between progranulin serum levels and dietary intake","volume":"13","author":"Nicoletto","year":"2018","journal-title":"PLoS One"},{"key":"2026070619572860600_awaf423-B23","doi-asserted-by":"crossref","first-page":"661","DOI":"10.5603\/EP.a2018.0044","article-title":"Serum progranulin levels are elevated in infertile women with obesity","volume":"69","author":"Gorkem","year":"2018","journal-title":"Endokrynol Pol"},{"key":"2026070619572860600_awaf423-B24","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1038\/gim.2017.102","article-title":"The wide genetic landscape of clinical frontotemporal dementia: Systematic combined sequencing of 121 consecutive subjects","volume":"20","author":"Blauwendraat","year":"2018","journal-title":"Genet Med"},{"key":"2026070619572860600_awaf423-B25","doi-asserted-by":"crossref","first-page":"224.e1","DOI":"10.1016\/j.neurobiolaging.2018.10.029","article-title":"Frontotemporal dementia spectrum: First genetic screen in a Greek cohort","volume":"75","author":"Ramos","year":"2019","journal-title":"Neurobiol Aging"},{"key":"2026070619572860600_awaf423-B26","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/S1474-4422(12)70043-1","article-title":"Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study","volume":"11","author":"Majounie","year":"2012","journal-title":"Lancet Neurol"},{"key":"2026070619572860600_awaf423-B27","doi-asserted-by":"crossref","first-page":"148.e9","DOI":"10.1016\/j.neurobiolaging.2020.07.014","article-title":"Underlying genetic variation in familial frontotemporal dementia: Sequencing of 198 patients","volume":"97","author":"Mol","year":"2021","journal-title":"Neurobiol Aging"},{"key":"2026070619572860600_awaf423-B28","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1212\/WNL.0b013e3181bf997a","article-title":"The heritability and genetics of frontotemporal lobar degeneration","volume":"73","author":"Rohrer","year":"2009","journal-title":"Neurology"},{"key":"2026070619572860600_awaf423-B29","doi-asserted-by":"crossref","first-page":"753","DOI":"10.3233\/JAD-170661","article-title":"The heritability of frontotemporal lobar degeneration: Validation of pedigree classification criteria in a northern Italy cohort","volume":"61","author":"Fostinelli","year":"2018","journal-title":"J Alzheimers Dis."},{"key":"2026070619572860600_awaf423-B30","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/S1474-4422(19)30394-1","article-title":"Age at symptom onset and death and disease duration in genetic frontotemporal dementia: An international retrospective cohort study","volume":"19","author":"Moore","year":"2020","journal-title":"Lancet Neurol"},{"key":"2026070619572860600_awaf423-B31","doi-asserted-by":"crossref","first-page":"fcad036","DOI":"10.1093\/braincomms\/fcad036","article-title":"Genetic forms of primary progressive aphasia within the GENetic frontotemporal dementia initiative (GENFI) cohort: Comparison with sporadic primary progressive aphasia","volume":"5","author":"Samra","year":"2023","journal-title":"Brain Commun"},{"key":"2026070619572860600_awaf423-B32","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/j.jalz.2018.10.009","article-title":"Genetic screen in a large series of patients with primary progressive aphasia","volume":"15","author":"Ramos","year":"2019","journal-title":"Alzheimers Dement"},{"key":"2026070619572860600_awaf423-B33","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1186\/s12913-023-09373-z","article-title":"Cost of exome analysis in patients with intellectual disability: A micro-costing study in a French setting","volume":"23","author":"Soilly","year":"2023","journal-title":"BMC Health Serv Res"},{"key":"2026070619572860600_awaf423-B34","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1111\/cge.14692","article-title":"Improved diagnostic yield in recessive intellectual disability utilizing systematic whole-exome sequencing data reanalysis","volume":"107","author":"Fattahi","year":"2025","journal-title":"Clin Genet"},{"key":"2026070619572860600_awaf423-B35","author":"Constitutionnelle Instituant Les Lois de Financement de La S\u00e9curit\u00e9 Sociale"},{"key":"2026070619572860600_awaf423-B36","author":"Conseil d\u2019Etat"},{"key":"2026070619572860600_awaf423-B37","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.conb.2021.10.001","article-title":"New insights and therapeutic opportunities for progranulin-deficient frontotemporal dementia","volume":"72","author":"Amin","year":"2022","journal-title":"Curr Opin Neurobiol"},{"key":"2026070619572860600_awaf423-B38","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1186\/s13195-024-01493-w","article-title":"Genetic and clinical landscape of Chinese frontotemporal dementia: Dominance of TBK1 and OPTN mutations","volume":"16","author":"Nan","year":"2024","journal-title":"Alzheimers Res Ther"},{"key":"2026070619572860600_awaf423-B39","doi-asserted-by":"crossref","first-page":"245.e9","DOI":"10.1016\/j.neurobiolaging.2017.10.016","article-title":"Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: Results from the GENFI study","volume":"62","author":"Galimberti","year":"2018","journal-title":"Neurobiol Aging"},{"key":"2026070619572860600_awaf423-B40","doi-asserted-by":"crossref","first-page":"3903","DOI":"10.3390\/ijms20163903","article-title":"The missing heritability of sporadic frontotemporal dementia: New insights from rare variants in neurodegenerative candidate genes","volume":"20","author":"Ciani","year":"2019","journal-title":"Int J Mol Sci"},{"key":"2026070619572860600_awaf423-B41","doi-asserted-by":"crossref","first-page":"11253","DOI":"10.1038\/ncomms11253","article-title":"CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia","volume":"7","author":"Williams","year":"2016","journal-title":"Nat Commun"},{"key":"2026070619572860600_awaf423-B42","doi-asserted-by":"crossref","first-page":"e70187","DOI":"10.1111\/ene.70187","article-title":"ANXA11 mutations in the FTD Spectrum: A novel finding in a patient with semantic variant primary progressive aphasia","volume":"32","author":"Meng","year":"2025","journal-title":"Eur J Neurol"},{"key":"2026070619572860600_awaf423-B43","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1212\/WNL.0000000000012466","article-title":"Deciphering neurodegenerative diseases using long-read sequencing","volume":"97","author":"Su","year":"2021","journal-title":"Neurology"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/brain\/advance-article-pdf\/doi\/10.1093\/brain\/awaf423\/65309457\/awaf423.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/149\/7\/2438\/65309457\/awaf423.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/149\/7\/2438\/65309457\/awaf423.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T23:57:39Z","timestamp":1783382259000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/149\/7\/2438\/8324380"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,15]]},"references-count":43,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2025,11,15]]},"published-print":{"date-parts":[[2026,7,7]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awaf423","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,7]]},"published":{"date-parts":[[2025,11,15]]}}}