Diagnostic accuracy of research criteria for prodromal frontotemporal dementia

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2024年1月12日

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Alberto Benussi,
Enrico Premi,
Mario Grassi,
Antonella Alberici,
Valentina Cantoni,
Stefano Gazzina,
Silvana Archetti,
Roberto Gasparotti,
Giorgio G. Fumagalli,
Arabella Bouzigues,
Lucy L. Russell,
Kiran Samra,
David M. Cash,
Martina Bocchetta,
Emily G. Todd,
Rhian S. Convery,
Imogen Swift,
Aitana Sogorb-Esteve,
Carolin Heller,
John C. van Swieten,
Lize C. Jiskoot,
Harro Seelaar,
Raquel Sanchez-Valle,
Fermin Moreno,
Robert Jr. Laforce,
Caroline Graff,
Matthis Synofzik,
Daniela Galimberti,
James B. Rowe,
Mario Masellis,
Maria Carmela Tartaglia,
Elizabeth Finger,
Rik Vandenberghe,
Alexandre Mendonça,
Pietro Tiraboschi,
Chris R. Butler,
Isabel Santana,
Alexander Gerhard,
Isabelle Le Ber,
Florence Pasquier,
Simon Ducharme,
Johannes Levin,
Sandro Sorbi,
Markus Otto,
Alessandro Padovani,
Jonathan D. Rohrer,
Barbara Borroni,
Annabel Nelson,
Martina Bocchetta,
David L. Thomas,
Hanya Benotmane,
Jennifer Nicholas,
Rachelle Shafei,
Carolyn Timberlake,
Thomas Cope,
Timothy Rittman,
Andrea Arighi,
Chiara Fenoglio,
Elio Scarpini,
Vittoria Borracci,
Giacomina Rossi,
Giorgio Giaccone,
Giuseppe Di Fede,
Paola Caroppo,
Sara Prioni,
Veronica Redaelli,
David Tang-Wai,
Ekaterina Rogaeva,
Miguel Castelo-Branco,
Morris Freedman,
Ron Keren,
Sandra Black,
Sara Mitchell,
Christen Shoesmith,
Robart Bartha,
Rosa Rademakers,
Jackie Poos,
Janne M. Papma,
Lucia Giannini,
Rick van Minkelen,
Yolande Pijnenburg,
Benedetta Nacmias,
Camilla Ferrari,
Cristina Polito,
Gemma Lombardi,
Valentina Bessi,
Michele Veldsman,
Christin Andersson,
Hakan Thonberg,
Linn Öijerstedt,
Vesna Jelic,
Paul Thompson,
Tobias Langheinrich,
Albert Lladó,
Anna Antonell,
Jaume Olives,
Mircea Balasa,
Nuria Bargalló,
Sergi Borrego-Ecija,
Ana Verdelho,
Carolina Maruta,
Catarina B. Ferreira,
Gabriel Miltenberger,
Frederico Simões do Couto,
Alazne Gabilondo,
Ana Gorostidi,
Jorge Villanua,
Marta Cañada,
Mikel Tainta,
Miren Zulaica,
Myriam Barandiaran,
Patricia Alves,
Benjamin Bender,
Carlo Wilke,
Lisa Graf,
Annick Vogels,
Mathieu Vandenbulcke,
Philip Van Damme,
Rose Bruffaerts,
Koen Poesen,
Pedro Rosa-Neto,
Serge Gauthier,
Agnès Camuzat,
Alexis Brice,
Anne Bertrand,
Aurélie Funkiewiez,
Daisy Rinaldi,
Dario Saracino,
Olivier Colliot,
Sabrina Sayah,
Catharina Prix,
Elisabeth Wlasich,
Olivia Wagemann,
Sandra Loosli,
Sonja Schönecker,
Tobias Hoegen,
Jolina Lombardi,
Sarah Anderl-Straub,
Adeline Rollin,
Gregory Kuchcinski,
Maxime Bertoux,
Thibaud Lebouvier,
Vincent Deramecourt,
Beatriz Santiago,
Diana Duro,
Maria João Leitão,
Maria Rosario Almeida,
Miguel Tábuas-Pereira,
Sónia Afonso

摘要

Background

The Genetic Frontotemporal Initiative Staging Group has proposed clinical criteria for the diagnosis of prodromal frontotemporal dementia (FTD), termed mild cognitive and/or behavioral and/or motor impairment (MCBMI). The objective of the study was to validate the proposed research criteria for MCBMI-FTD in a cohort of genetically confirmed FTD cases against healthy controls.

Methods

A total of 398 participants were enrolled, 117 of whom were carriers of an FTD pathogenic variant with mild clinical symptoms, while 281 were non-carrier family members (healthy controls (HC)). A subgroup of patients underwent blood neurofilament light (NfL) levels and anterior cingulate atrophy assessment.

Results

The core clinical criteria correctly classified MCBMI vs HC with an AUC of 0.79 (p < 0.001), while the addition of either blood NfL or anterior cingulate atrophy significantly increased the AUC to 0.84 and 0.82, respectively (p < 0.001). The addition of both markers further increased the AUC to 0.90 (p < 0.001).

Conclusions

The proposed MCBMI criteria showed very good classification accuracy for identifying the prodromal stage of FTD.