Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
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- 作者：Julie van der Zee (1) (2)
Tim Van Langenhove (1) (2) (3)
Gabor G. Kovacs (4)
Lubina Dillen (1) (2)
William Deschamps (1) (2)
Sebastiaan Engelborghs (2) (5)
Radoslav Matěj (6) (7)
Mathieu Vandenbulcke (8) (9)
Anne Sieben (1) (10) (2)
Bart Dermaut (10) (11) (12)
Katrien Smets (1) (2) (3)
Philip Van Damme (13) (14)
Céline Merlin (1) (2)
Annelies Laureys (1) (2)
Marleen Van Den Broeck (1) (2)
Maria Mattheijssens (1) (2)
Karin Peeters (1) (2)
Luisa Benussi (15)
Giuliano Binetti (15)
Roberta Ghidoni (16)
Barbara Borroni (17)
Alessandro Padovani (17)
Silvana Archetti (18)
Pau Pastor (19) (20) (21)
Cristina Razquin (19)
Sara Ortega-Cubero (19) (20) (21)
Isabel Hernández (22)
Mercè Boada (22)
Agustín Ruiz (22)
Alexandre de Mendon?a (23)
Gabriel Miltenberger-Miltényi (23)
Frederico Sim?es do Couto (23) (24)
Sandro Sorbi (25)
Benedetta Nacmias (25)
Silvia Bagnoli (25)
Caroline Graff (26) (27)
Huei-Hsin Chiang (26) (27)
H?kan Thonberg (27)
Robert Perneczky (28) (29) (30)
Janine Diehl-Schmid (30)
Panagiotis Alexopoulos (30)
Giovanni B. Frisoni (31) (32)
Christian Bonvicini (32)
Matthis Synofzik (33) (34)
Walter Maetzler (33) (34)
Jennifer Müller vom Hagen (33) (34)
Ludger Sch?ls (33) (34)
Tobias B. Haack (35) (36)
Tim M. Strom (35) (36)
Holger Prokisch (35) (36)
Oriol Dols-Icardo (37) (38)
Jordi Clarimón (37) (38)
Alberto Lleó (37) (38)
Isabel Santana (39) (40)
Maria Rosário Almeida (41)
Beatriz Santiago (39)
Michael T. Heneka (42) (43)
Frank Jessen (43) (44)
Alfredo Ramirez (44) (45)
Raquel Sanchez-Valle (46)
Albert Llado (46)
Ellen Gelpi (47)
Stayko Sarafov (48)
Ivailo Tournev (48) (49)
Albena Jordanova (1) (2) (50)
Eva Parobkova (6)
Gian Maria Fabrizi (51)
Silvia Testi (51)
Eric Salmon (52)
Thomas Str?bel (4)
Patrick Santens (10)
Wim Robberecht (13) (14)
Peter De Jonghe (1) (2) (3)
Jean-Jacques Martin (1) (2)
Patrick Cras (2) (3)
Rik Vandenberghe (53) (9)
Peter Paul De Deyn (2) (5) (54)
Marc Cruts (1) (2)
Kristel Sleegers (1) (2)
Christine Van Broeckhoven (1) (2) - 关键词：Sequestosome 1 ; SQSTM1 ; p62 ; FTLD ; ALS ; Rare variants
- 刊名：Acta Neuropathologica
- 出版年：2014
- 出版时间：September 2014
- 年：2014
- 卷：128
- 期：3
- 页码：397-410
- 全文大小：2,566 KB
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Tim Van Langenhove (1) (2) (3)
Gabor G. Kovacs (4)
Lubina Dillen (1) (2)
William Deschamps (1) (2)
Sebastiaan Engelborghs (2) (5)
Radoslav Matěj (6) (7)
Mathieu Vandenbulcke (8) (9)
Anne Sieben (1) (10) (2)
Bart Dermaut (10) (11) (12)
Katrien Smets (1) (2) (3)
Philip Van Damme (13) (14)
Céline Merlin (1) (2)
Annelies Laureys (1) (2)
Marleen Van Den Broeck (1) (2)
Maria Mattheijssens (1) (2)
Karin Peeters (1) (2)
Luisa Benussi (15)
Giuliano Binetti (15)
Roberta Ghidoni (16)
Barbara Borroni (17)
Alessandro Padovani (17)
Silvana Archetti (18)
Pau Pastor (19) (20) (21)
Cristina Razquin (19)
Sara Ortega-Cubero (19) (20) (21)
Isabel Hernández (22)
Mercè Boada (22)
Agustín Ruiz (22)
Alexandre de Mendon?a (23)
Gabriel Miltenberger-Miltényi (23)
Frederico Sim?es do Couto (23) (24)
Sandro Sorbi (25)
Benedetta Nacmias (25)
Silvia Bagnoli (25)
Caroline Graff (26) (27)
Huei-Hsin Chiang (26) (27)
H?kan Thonberg (27)
Robert Perneczky (28) (29) (30)
Janine Diehl-Schmid (30)
Panagiotis Alexopoulos (30)
Giovanni B. Frisoni (31) (32)
Christian Bonvicini (32)
Matthis Synofzik (33) (34)
Walter Maetzler (33) (34)
Jennifer Müller vom Hagen (33) (34)
Ludger Sch?ls (33) (34)
Tobias B. Haack (35) (36)
Tim M. Strom (35) (36)
Holger Prokisch (35) (36)
Oriol Dols-Icardo (37) (38)
Jordi Clarimón (37) (38)
Alberto Lleó (37) (38)
Isabel Santana (39) (40)
Maria Rosário Almeida (41)
Beatriz Santiago (39)
Michael T. Heneka (42) (43)
Frank Jessen (43) (44)
Alfredo Ramirez (44) (45)
Raquel Sanchez-Valle (46)
Albert Llado (46)
Ellen Gelpi (47)
Stayko Sarafov (48)
Ivailo Tournev (48) (49)
Albena Jordanova (1) (2) (50)
Eva Parobkova (6)
Gian Maria Fabrizi (51)
Silvia Testi (51)
Eric Salmon (52)
Thomas Str?bel (4)
Patrick Santens (10)
Wim Robberecht (13) (14)
Peter De Jonghe (1) (2) (3)
Jean-Jacques Martin (1) (2)
Patrick Cras (2) (3)
Rik Vandenberghe (53) (9)
Peter Paul De Deyn (2) (5) (54)
Marc Cruts (1) (2)
Kristel Sleegers (1) (2)
Christine Van Broeckhoven (1) (2)
1. Department of Molecular Genetics, VIB, Antwerp, Belgium
2. Institute Born-Bunge, University of Antwerp, Antwerp, Belgium
3. Department of Neurology, Antwerp University Hospital, Edegem, Belgium
4. Institute of Neurology, Neurodegenerative Diseases Group, Medical University of Vienna, Vienna, Austria
5. Department of Neurology and Memory Clinic, Hospital Network Antwerp Middelheim and Hoge Beuken, Antwerp, Belgium
6. Department of Pathology and Molecular Medicine, Thomayer Hospital, Prague, Czech Republic
7. Department of Neurology, First Medical Faculty, Center of Clinical Neurosciences, Charles University in Prague, Prague, Czech Republic
8. Brain and Emotion Laboratory, Department of Psychiatry, University of Leuven, Louvain, Belgium
9. Old Age Psychiatry, University Hospitals Leuven and Department of Neurosciences, University of Leuven, Louvain, Belgium
10. Department of Neurology, University Hospital Ghent, Ghent, Belgium
11. Center for Medical Genetics, University Hospital Ghent, Ghent, Belgium
12. Inserm U744, Institut Pasteur de Lille, Université de Lille Nord de France, Lille, France
13. Department of Neurology, University Hospitals Leuven and University of Leuven, Louvain, Belgium
14. Laboratory for Neurobiology, Vesalius Research Center, VIB, Louvain, Belgium
15. NeuroBioGen Lab-Memory Clinic, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy
16. Proteomics Unit, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy
17. Neurology Unit, University of Brescia, Brescia, Italy
18. III Laboratory of Analysis, Brescia Hospital, Brescia, Italy
19. Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, Universidad de Navarra, Pamplona, Spain
20. Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, Pamplona, Spain
21. Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid, Spain
22. Memory Clinic of Fundació ACE, Institut Català de Neurociències Aplicades, Barcelona, Spain
23. Faculty of Medicine and Institute of Molecular Medicine, University of Lisbon, Lisbon, Portugal
24. Hospital Santa Maria, Lisbon, Portugal
25. Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy
26. Karolinska Institutet, Department of Neurobiology, Care Sciences and Society (NVS), KI-Alzheimer Disease Research Center, Stockholm, Sweden
27. Genetics Unit, Department of Geriatric Medicine, Karolinska University Hospital, Stockholm, Sweden
28. Neuroepidemiology and Ageing Research Unit, School of Public Health, Faculty of Medicine, The Imperial College of Science, Technology and Medicine, London, W6 8RP, UK
29. West London Cognitive Disorders Treatment and Research Unit, West London Mental Health Trust, London, TW8 8DS, UK
30. Department of Psychiatry and Psychotherapy, Technische Universit?t München, 81675, Munich, Germany
31. H?pitaux Universitaires de Genève et Université de Genève, Geneva, Switzerland
32. IRCCS Fatebenefratelli, Brescia, Italy
33. Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and Centre of Neurology, Tübingen, Germany
34. German Research Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany
35. Institute of Human Genetics, Technische Universit?t München, 81675, Munich, Germany
36. Institute of Human Genetics, Helmholtz Zentrum München, 85764, Neuherberg, Germany
37. Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain
38. Center for Networker Biomedical Research in Neurodegenerative Diseases (CIBERNED), Madrid, Spain
39. Neurology Department, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal
40. Faculty of Medicine, University of Coimbra, Coimbra, Portugal
41. Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal
42. Clinical Neuroscience Unit, Department of Neurology, University of Bonn, Bonn, Germany
43. German Center for Neurodegenerative Diseases (DZNE), University of Bonn, Bonn, Germany
44. Department of Psychiatry and Psychotherapy, University of Bonn, Bonn, Germany
45. Institute of Human Genetics, University of Bonn, Bonn, Germany
46. Alzheimer’s Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Clínic, IDIBAPS, Barcelona, Spain
47. Neurological Tissue Bank of the Biobanc-Hospital Clinic-Institut d’Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
48. Department of Neurology, Medical University Sofia, Sofia, Bulgaria
49. Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria
50. Department of Biochemistry, Molecular Medicine Center, Medical University, Sofia, Sofia, Bulgaria
51. Department of Neurological and Movement Sciences, University of Verona, Verona, Italy
52. Cyclotron Research Centre, University of Liege and Memory Clinic, CHU Liege, Liege, Belgium
53. Laboratory for Cognitive Neurology, Department of Neurology, University of Leuven and University Hospitals Leuven Gasthuisberg, Louvain, Belgium
54. Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands - ISSN：1432-0533
文摘
Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding sequence for mutations in an extended cohort of 1,808 patients with frontotemporal lobar degeneration (FTLD), ascertained within the European Early-Onset Dementia consortium. As control dataset, we sequenced 1,625 European control individuals and analyzed whole-exome sequence data of 2,274 German individuals (total n?=?3,899). Association of rare SQSTM1 mutations was calculated in a meta-analysis of 4,332 FTLD and 10,240 control alleles. We identified 25 coding variants in FTLD patients of which 10 have not been described. Fifteen mutations were absent in the control individuals (carrier frequency SQSTM1 may influence disease susceptibility by doubling the risk for FTLD (RR?=?2.18 [95?% CI 1.24-.85]; corrected p value?=?0.042). Detailed histopathology demonstrated that mutations in SQSTM1 associate with widespread neuronal and glial phospho-TDP-43 pathology. With this study, we provide further evidence for a putative role of rare mutations in SQSTM1 in the genetic etiology of FTLD and showed that, comparable to other FTLD/ALS genes, SQSTM1 mutations are associated with TDP-43 pathology.