No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

被引：18

作者：

Baradaran-Heravi, Yalda ^{[1
,2
]}

Dillen, Lubina ^{[1
,2
]}

Hung Phuoc Nguyen ^{[1
,2
]}

Van Mossevelde, Sara ^{[1
,2
,3
]}

Baets, Jonathan ^{[2
,3
,4
]}

De Jonghe, Peter ^{[2
,3
,4
]}

Engelborghs, Sebastiaan ^{[2
,5
]}

De Deyn, Peter P. ^{[2
,5
]}

Vandenbulcke, Mathieu ^{[6
,7
,8
]}

Vandenberghe, Rik ^{[6
,9
]}

Van Damme, Philip ^{[6
,9
,10
]}

Cras, Patrick ^{[2
,3
]}

Salmon, Eric ^{[11
,12
]}

Synofzik, Matthis ^{[13
,14
]}

Heutink, Peter ^{[13
,15
]}

Wilke, Carlo ^{[13
,14
]}

Simon-Sanchez, Javier ^{[13
,14
]}

Rojas-Garcia, Ricard ^{[16
,17
]}

Turon-Sans, Janina ^{[16
,17
]}

Lleo, Alberto ^{[18
,19
]}

Illan-Gala, Ignacio ^{[18
,19
]}

Clarimon, Jordi ^{[18
,19
]}

Borroni, Barbara ^{[20
]}

Padovani, Alessandro ^{[20
]}

Pastor, Pau ^{[21
,22
]}

Diez-Fairen, Monica ^{[21
,22
]}

Aguilar, Miquel ^{[21
,22
]}

Gelpi, Ellen ^{[23
]}

Sanchez-Valle, Raquel ^{[24
]}

Borrego-Ecija, Sergi ^{[24
]}

Matej, Radoslav ^{[25
,26
]}

Parobkova, Eva ^{[25
,26
]}

Nacmias, Benedetta ^{[27
]}

Sorbi, Sandro ^{[27
,28
]}

Bagnoli, Silvia ^{[27
]}

de Mendonca, Alexandre ^{[29
]}

Ferreira, Catarina ^{[29
]}

Fraidakis, Matthew J. ^{[30
]}

Diehl-Schmid, Janine ^{[31
]}

Alexopoulos, Panagiotis ^{[31
]}

Almeida, Maria Rosario ^{[32
]}

Santana, Isabel ^{[32
]}

Van Broeckhoven, Christine ^{[1
,2
]}

van der Zee, Julie ^{[1
,2
]}

机构：

[1] VIB UAntwerp Ctr Mol Neurol, Neurodegenerat Brain Dis Grp, Antwerp, Belgium

[2] Univ Antwerp, Inst Born Bunge, Lab Neurogenet, Antwerp, Belgium

[3] Antwerp Univ Hosp UZA, Dept Neurol, Edegem, Belgium

[4] VIB UAntwerp Ctr Mol Neurol, Neurogenet Grp, Antwerp, Belgium

[5] Hosp Network Antwerp ZNA, Dept Neurol & Memory Clin, Antwerp, Belgium

[6] Katholieke Univ Leuven, Dept Neurosci, Fac Med, Leuven, Belgium

[7] Univ Hosp Leuven, Dept Old Age Psychiat, Leuven, Belgium

[8] Univ Hosp Leuven, Memory Clin, Leuven, Belgium

[9] Univ Hosp Leuven, Dept Neurol, Leuven, Belgium

[10] VIB, Lab Neurobiol, Ctr Brain & Dis Res, Leuven, Belgium

[11] Univ Liege, Cyclotron Res Ctr, Liege, Belgium

[12] CHU Liege, Memory Clin, Liege, Belgium

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

[14] German Ctr Neurodegenerat Dis DZNE, Neurodegenerat, Tubingen, Germany

[15] German Ctr Neurodegenerat Dis DZNE, Genome Biol Neurodegenerat Dis, Tubingen, Germany

[16] Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Dept Neurol, Neuromuscular Dis Unit, Barcelona, Spain

[17] Ctr Networked Biomed Res Rare Dis CIBERER, Madrid, Spain

[18] Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Dept Neurol, Memory Unit, Barcelona, Spain

[19] Ctr Networked Biomed Res Neurodegenerat Disorders, Madrid, Spain

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

[21] Fdn Recerca Biomed & Social Mutua de Terrassa, Barcelona, Spain

[22] Univ Hosp Mutua de Terrassa, Dept Neurol, Memory Disorders Unit, Barcelona, Spain

[23] Inst Invest Biomed August Pi i Sunyer IDIBAPS, Hosp Clin, Neurol Tissue Bank Biobanc, Barcelona, Spain

[24] Inst Invest Biomed August Pi i Sunyer IDIBAPS, Hosp Clin, Alzheimers Dis & Other Cognit Disorders Unit, Neurol Dept, Barcelona, Spain

[25] Thomayer Hosp, Dept Pathol & Mol Med, Prague, Czech Republic

[26] Charles Univ Prague, Med Fac 3, Dept Pathol, Prague, Czech Republic

[27] Univ Florence, Dept Neurosci Psychol Drug Res & Child Hlth, Florence, Italy

[28] IRCCS Don Gnocchi, Florence, Italy

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

[30] NeuroRARE Ctr Rare & Genet Neurol & Neuromuscular, Athens, Greece

[31] Tech Univ Munich, Dept Psychiat & Psychotherapy, Munich, Germany

[32] Univ Coimbra, Ctr Neurosci & Cell Biol, Coimbra, Portugal

来源：

NEUROBIOLOGY OF AGING | 2018年 / 69卷

关键词：

Amyotrophic lateral sclerosis (ALS); Frontotemporal dementia (FTD); TAR DNA-Binding protein 43 (TDP-43); T cellerestricted intracellular antigen-1 gene (TIA1); FRONTOTEMPORAL DEMENTIA;

D O I：

10.1016/j.neurobiolaging.2018.05.005

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：

We evaluated the genetic contribution of the T cell-erestricted intracellular antigen-1 gene (TIA1) in a European cohort of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) patients. Exonic resequencing of TIA1 in 1120 patients (693 FTD, 341 ALS, 86 FTD-ALS) and 1039 controls identified in total 5 rare heterozygous missense variants, affecting the TIA1 low-complexity domain (LCD). Only 1 missense variant, p.Met290Thr, identified in a familial FTD patient with disease onset at 64 years, was absent from controls yet received a combined annotation-dependent depletion score of 11.42. By contrast, 3 of the 4 variants also detected in unaffected controls, p.Val294Glu, p.Gln318Arg, and p.Ala381Thr, had combined annotation-dependent depletion scores greater than 20. Our findings in a large European patient-control series indicate that variants in TIA1 are not a common cause of ALS and FTD. The observation of recurring TIA1 missense variants in unaffected individuals lead us to conclude that the exact genetic contribution of TIA1 to ALS and FTD pathogenesis remains to be further elucidated. (C) 2018 The Authors. Published by Elsevier Inc.

引用

页码：293.e9 / 293.e11

页数：3

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