Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia

被引：4

作者：

Gazzina, Stefano ^{[1
]}

Grassi, Mario ^{[2
]}

Premi, Enrico ^{[3
]}

Alberici, Antonella ^{[4
]}

Benussi, Alberto ^{[4
,5
]}

Archetti, Silvana ^{[6
]}

Gasparotti, Roberto ^{[7
]}

Bocchetta, Martina ^{[8
]}

Cash, David M. ^{[8
]}

Todd, Emily G. ^{[8
]}

Peakman, Georgia ^{[8
]}

Convery, Rhian S. ^{[8
]}

Swieten, John C. van ^{[9
]}

Jiskoot, Lize C. ^{[9
]}

Seelaar, Harro ^{[9
]}

Sanchez-Valle, Raquel ^{[10
]}

Moreno, Fermin ^{[11
]}

Laforce, Robert, Jr. ^{[12
,13
]}

Graff, Caroline ^{[14
]}

Synofzik, Matthis ^{[15
,16
]}

Galimberti, Daniela ^{[17
,18
]}

Rowe, James B. ^{[19
,20
]}

Masellis, Mario ^{[21
]}

Tartaglia, Maria Carmela ^{[22
]}

Finger, Elizabeth ^{[23
]}

Vandenberghe, Rik ^{[24
,25
,26
]}

de Mendonca, Alexandre ^{[27
]}

Tagliavini, Fabrizio ^{[28
]}

Butler, Chris R. ^{[29
]}

Santana, Isabel ^{[30
]}

Gerhard, Alexander ^{[31
,32
]}

Le Ber, Isabelle ^{[33
,34
,35
,36
]}

Pasquier, Florence ^{[37
]}

Ducharme, Simon ^{[38
]}

Levin, Johannes ^{[39
,40
,41
]}

Danek, Adrian ^{[42
]}

Sorbi, Sandro ^{[43
,44
]}

Otto, Markus ^{[42
]}

Rohrer, Jonathan D. ^{[9
]}

Borroni, Barbara ^{[4
]}

机构：

[1] ASST Spedali Civili Hosp, Neurophysiol Unit, Brescia, Italy

[2] Univ Pavia, Dept Brain & Behav Sci, Med & Genom Stat Unit, Pavia, Italy

[3] ASST Spedali Civili Hosp, Stroke Unit, Neurol Unit, Brescia, Italy

[4] ASST Spedali Civili Hosp, Neurol Unit, Brescia, Italy

[5] Univ Brescia, Dept Clin & Expt Sci, Neurol Unit, Ctr Neurodegenerat Disorders, Brescia, Italy

[6] Spedali Civili Hosp, Dept Diagnost, Biotechnol Lab, Brescia, Italy

[7] Univ Brescia, Neuroradiol Unit, Brescia, Italy

[8] UCL Inst Neurol, Dept Neurodegenerat Dis, Dementia Res Ctr, London, England

[9] Erasmus MC, Dept Neurol, Rotterdam, Netherlands

[10] Univ Barcelona, Hosp Clin, Alzheimers Dis & Other Cognit Disorders Unit, Neurol Serv, Barcelona, Spain

[11] Donostia Univ Hosp, Dept Neurol, Cognit Disorders Unit, San Sebastian, Spain

[12] Univ Laval, CHU Quebec, Dept Sci Neurol, Clin Interdisciplinaire Mem, Quebec City, PQ, Canada

[13] Univ Laval, Fac Med, Dept Sci Neurol, Clin Interdisciplinaire Mem, Quebec City, PQ, Canada

[14] Karolinska Inst, Div Neurogeriatr, Dept Neurobiol Care Sci & Soc, Ctr Alzheimer Res,Bioclinicum, Solna, Sweden

[15] Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, Tubingen, Germany

[16] Univ Tubingen, Dept Neurodegenerat Dis, Ctr Neurol, Tubingen, Germany

[17] IRCCS Osped Policlin, Fdn Cagranda, Milan, Italy

[18] Univ Milan, Ctr Dino Ferrari, Milan, Italy

[19] Univ Cambridge, Dept Clin Neurosci, Cambridge, England

[20] Univ Cambridge, Cambridge Univ Hosp NHS Trust, Cambridge, England

[21] Univ Toronto, Sunnybrook Res Inst, Sunnybrook Hlth Sci Ctr, Toronto, ON, Canada

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

[23] Univ Western Ontario, Dept Clin Neurol Sci, London, ON, Canada

[24] Katholieke Univ Leuven, Lab Cognit Neurol, Dept Neurosci, Leuven, Belgium

[25] Univ Hosp Leuven, Neurol Serv, Leuven, Belgium

[26] Katholieke Univ Leuven, Leuven Brain Inst, Leuven, Belgium

[27] Univ Lisbon, Fac Med, Lisbon, Portugal

[28] Fdn IRCCS Ist Neurol Carlo Besta, Milan, Italy

[29] Univ Oxford, Div Med Sci, Nueld Dept Clin Neurosci, Oxford, England

[30] Univ Coimbra, Univ Hosp Coimbra HUC, Neurol Serv, Fac Med, Coimbra, Portugal

[31] Univ Manchester, Div Neurosci & Expt Psychol, Fac Med Biol & Hlth, Manchester, England

[32] Essen Univ Hosp, Dept Geriatr Med & Nucl Med, Essen, Germany

[33] Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Inst Cerveau ICM,Paris Brain Inst, Paris, France

[34] Hop La Pitie Salpetriere, AP HP, Dept Neurol, Ctr Reference Demences Rares Precoces, Paris, France

[35] Hop La Pitie Salpetriere, AP HP, Dept Neurol, Paris, France

[36] Reference Network Rare Neurol Dis ERN RND, Paris, France

[37] Univ Lille, INSERM, Lille, France

[38] McGill Univ, Hlth Ctr, Dept Psychiat, Montreal, PQ, Canada

[39] Ludwig Maximilians Univ Munchen, Dept Neurol, Munich, Germany

[40] German Ctr Neurodegenerat Dis DZNE, Munich, Germany

[41] Munich Cluster Syst Neurol SyNergy, Munich, Germany

[42] Univ Ulm, Dept Neurol, Ulm, Germany

[43] Univ Florence, Dept Neurofarba, Florence, Italy

[44] IRCCS Fdn Don Carlo Gnocchi, Florence, Italy

来源：

NEUROBIOLOGY OF AGING | 2022年 / 114卷

基金：

加拿大健康研究院; 英国医学研究理事会;

关键词：

Graph theory; Structural MRI; Frontotemporal dementia; Granulin; Progranulin; Mutation; MILD COGNITIVE IMPAIRMENT; MINIMUM SPANNING TREE; COVARIANCE NETWORKS; ORGANIZATION; PATTERNS; DISEASE; ATROPHY;

D O I：

10.1016/j.neurobiolaging.2022.02.009

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Frontotemporal dementia associated with granulin (GRN) mutations presents asymmetric brain atrophy. We applied a Minimum Spanning Tree plus an Efficiency Cost Optimization approach to cortical thickness data in order to test whether graph theory measures could identify global or local impairment of connectivity in the presymptomatic phase of pathology, where other techniques failed in demonstrating changes. We included 52 symptomatic GRN mutation carriers (SC), 161 presymptomatic GRN mutation carriers (PSC) and 341 non-carriers relatives from the Genetic Frontotemporal dementia research Initiative cohort. Group differences of global, nodal and edge connectivity in (Minimum Spanning Tree plus an Efficiency Cost Optimization) graph were tested via Structural Equation Models. Global graph perturbation was selectively impaired in SC compared to non-carriers, with no changes in PSC. At the local level, only SC exhibited perturbation of frontotemporal nodes, but edge connectivity revealed a characteristic pattern of interhemispheric disconnection, involving homologous parietal regions, in PSC. Our results suggest that GRN-related frontotemporal dementia resembles a disconnection syndrome, with interhemispheric disconnection between parietal regions in presymptomatic phases that progresses to frontotemporal areas as symptoms emerge. (c) 2022 Elsevier Inc. All rights reserved.

引用

页码：94 / 104

页数：11

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