Diagnostic accuracy of research criteria for prodromal frontotemporal dementia

被引：1

作者：

Benussi, Alberto ^{[1
,2
]}

Premi, Enrico ^{[3
]}

Grassi, Mario ^{[4
]}

Alberici, Antonella ^{[2
]}

Cantoni, Valentina ^{[5
]}

Gazzina, Stefano ^{[6
]}

Archetti, Silvana ^{[7
]}

Gasparotti, Roberto ^{[8
]}

Fumagalli, Giorgio G. ^{[9
]}

Bouzigues, Arabella ^{[10
]}

Russell, Lucy L. ^{[10
]}

Samra, Kiran ^{[10
]}

Cash, David M. ^{[10
]}

Bocchetta, Martina ^{[10
]}

Todd, Emily G. ^{[10
]}

Convery, Rhian S. ^{[10
]}

Swift, Imogen ^{[10
,11
]}

Sogorb-Esteve, Aitana ^{[10
,11
]}

Heller, Carolin ^{[10
,11
]}

van Swieten, John C. ^{[12
]}

Jiskoot, Lize C. ^{[12
]}

Seelaar, Harro ^{[12
]}

Sanchez-Valle, Raquel ^{[13
]}

Moreno, Fermin ^{[14
,15
]}

Laforce, Jr Robert ^{[16
,17
]}

Graff, Caroline ^{[18
,19
]}

Synofzik, Matthis ^{[20
,21
,22
]}

Galimberti, Daniela ^{[23
,24
]}

Rowe, James B. ^{[25
,26
,27
]}

Masellis, Mario ^{[28
]}

Tartaglia, Maria Carmela ^{[29
]}

Finger, Elizabeth ^{[30
]}

Vandenberghe, Rik ^{[31
,32
,33
]}

Mendonca, Alexandre ^{[34
]}

Tiraboschi, Pietro ^{[35
]}

Butler, Chris R. ^{[36
,37
]}

Santana, Isabel ^{[38
,39
]}

Gerhard, Alexander ^{[40
,41
,42
,43
]}

Le Ber, Isabelle ^{[44
,45
,46
]}

Pasquier, Florence ^{[47
,48
,49
]}

Ducharme, Simon ^{[50
,51
]}

Levin, Johannes ^{[52
,53
,54
]}

Sorbi, Sandro ^{[55
,56
]}

Otto, Markus ^{[57
]}

Padovani, Alessandro ^{[1
,2
]}

Rohrer, Jonathan D. ^{[10
,11
]}

Borroni, Barbara ^{[1
,2
]}

机构：

[1] Univ Brescia, Dept Clin & Expt Sci, Neurol Unit, Ple Spedali Civili 1, I-25123 Brescia, Italy

[2] ASST Spedali Civili Brescia, Neurol Unit, Dept Neurol & Vis Sci, I-25123 Brescia, Italy

[3] ASST Spedali Civili Brescia, Vasc Neurol Unit, Dept Neurol & Vis Sci, I-25123 Brescia, Italy

[4] Univ Pavia, Dept Brain & Behav Sci, Med & Genom Stat Unit, I-27100 Pavia, Italy

[5] Univ Brescia, Dept Mol & Translat Med, I-25123 Brescia, Italy

[6] ASST Spedali Civili Brescia, Neurophysiol Unit, Dept Neurol & Vis Sci, I-25123 Brescia, Italy

[7] ASST Spedali Civili Brescia, Biotechnol Lab, Dept Diagnost, Brescia, Italy

[8] Univ Brescia, Dept Med & Surg Specialties, I-25123 Brescia, Italy

[9] Univ Trento, Ctr Mind Brain Sci CIMeC, I-38068 Rovereto, Italy

[10] UCL Inst Neurol, Dementia Res Ctr, Dept Neurodegenerat Dis, Queen Sq, London WC1N 3BG, England

[11] UCL, UK Dementia Res Inst, London WC1E 6BT, England

[12] Erasmus MC, Dept Neurol, NL-3015 GD Rotterdam, Netherlands

[13] Univ Barcelona, Alzheimers Dis & Other Cognit Disorders Unit, Inst Invest Biomed August Pi & Sunyer, Neurol Serv,Hosp Clin, Barcelona 08036, Spain

[14] Hosp Univ Donostia, Dept Neurol, Cognit Disorders Unit, San Sebastian 20014, Gipuzkoa, Spain

[15] Biodonostia Hlth Res Inst, Neurosci Area, San Sebastian 20014, Gipuzkoa, Spain

[16] CHU Quebec, Clin Interdisciplinaire Memoire, Dept Sci Neurol, Quebec City, PQ G1V 0A6, Canada

[17] Univ Laval, Fac Med, Quebec City, PQ G1V 0A6, Canada

[18] Karolinska Inst, Ctr Alzheimer Res, Dept Neurobiol Care Sci & Soc, Div Neurogeriatr,Bioclinicum, S-14152 Solna, Sweden

[19] Karolinska Univ Hosp, Theme Aging, Unit Hereditary Dementias, S-14152 Solna, Sweden

[20] Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat, D-72076 Tubingen, Germany

[21] Univ Tubingen, Ctr Neurol, D-72076 Tubingen, Germany

[22] Ctr Neurodegenerat Dis DZNE, D-72076 Tubingen, Germany

[23] Osped Maggiore Policlin, Fdn IRCCS Ca Granda, Milan, Italy

[24] Univ Milan, Dept Biomed Surg & Dent Sci, I-20122 Milan, Italy

[25] Univ Cambridge, Dept Clin Neurosci, Cambridge CB3 7EF, England

[26] Univ Cambridge, Cambridge Univ Hosp NHS Trust, Cambridge CB3 7EF, England

[27] Univ Cambridge, Med Res Council Cognit & Brain Sci Unit, Cambridge CB3 7EF, England

[28] Univ Toronto, Sunnybrook Hlth Sci Ctr, Sunnybrook Res Inst, Toronto, ON M4N 3M5, Canada

[29] Univ Toronto, Tanz Ctr Res Neurodegenerat Dis, Toronto, ON M5S, Canada

[30] Univ Western Ontario, Dept Clin Neurol Sci, London, ON N6A 3K7, Canada

[31] Katholieke Univ Leuven, Dept Neurosci, Lab Cognit Neurol, B-3001 Leuven, Belgium

[32] Univ Hosp Leuven, Neurol Serv, B-3000 Leuven, Belgium

[33] Katholieke Univ Leuven, Leuven Brain Inst, B-3001 Leuven, Belgium

[34] Univ Lisbon, Fac Med, P-1649028 Lisbon, Portugal

[35] Fdn IRCCS Ist Neurol Carlo Besta, I-20133 Milan, Italy

[36] Univ Oxford, Nuffield Dept Clin Neurosci, Med Sci Div, Oxford OX3 9DU, England

[37] Imperial Coll London, Dept Brain Sci, London SW7 2BX, England

[38] Univ Coimbra, Neurol Serv, Univ Hosp Coimbra HUC, Fac Med, P-3004561 Coimbra, Portugal

[39] Univ Coimbra, Fac Med, Ctr Neurosci & Cell Biol, P-3004561 Coimbra, Portugal

[40] Univ Manchester, Wolfson Mol Imaging Ctr, Div Neurosci & Expt Psychol, Manchester M20 3LJ, Lancs, England

[41] Univ Duisburg Essen, Dept Geriatr Med, D-45141 Essen, Germany

[42] Univ Duisburg Essen, Dept Nucl Med, D-45141 Essen, Germany

[43] Salford Royal NHS Fdn Trust, Manchester Ctr Clin Neurosci, Cerebral Funct Unit, Salford M6 8HD, Lancs, England

[44] Sorbonne Univ, Hop Pitie Salpetriere, AP HP,CNRS, Paris Brain Inst,Inst Cerveau ICM,INSERM,U1127,UM, F-75013 Paris, France

[45] Hop La Pitie Salpetriere, AP HP, Ctr Reference Demences Rares Precoces, Dept Neurol,IM2A, F-75013 Paris, France

[46] Hop La Pitie Salpetriere, AP HP, Dept Neurol, F-75013 Paris, France

[47] Univ Lille, F-59000 Lille, France

[48] Inserm 1172, F-59000 Lille, France

[49] CHU, LiCEND Lille, CNR MAJ, Labex Distalz, F-59000 Lille, France

[50] McGill Univ, Dept Psychiat, Douglas Mental Hlth Univ Inst, Montreal, PQ H3A 1A1, Canada

来源：

ALZHEIMERS RESEARCH & THERAPY | 2024年 / 16卷 / 01期

基金：

欧洲研究理事会; 英国医学研究理事会; 瑞典研究理事会;

关键词：

Prodromal; MCBMI; Frontotemporal dementia; Diagnostic criteria; Diagnostic accuracy; WHITE-MATTER HYPERINTENSITIES; C9ORF72 HEXANUCLEOTIDE REPEAT; NEUROFILAMENT LIGHT-CHAIN; BEHAVIORAL VARIANT; PATHOLOGY; GENFI; GRN;

D O I：

10.1186/s13195-024-01383-1

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

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.

引用

页数：12

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