A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (vol 138, pg 237, 2019)

Por: van der Lee, SJ, Conway, OJ, Jansen, I, Carrasquillo, MM, Kleineidam, L, van den Akker, E, Hernandez, I, van Eijk, KR, Stringa, N, Chen, JSA, Zettergren, A, Andlauer, TFM, Diez-Fairen, M, Simon-Sanchez, J, Lleo, A, Zetterberg, H, Nygaard, M, Blauwendraat, C, Savage, JE, Mengel-From, J, Moreno-Grau, S, Wagner, M, Fortea, J, Keogh, MJ, Blennow, K, Skoog, I, Friese, MA, Pletnikova, O, Zulaica, M, Lage, C, de Rojas, I, Riedel-Heller, S, Illan-Gala, I, Wei, W, Jeune, B, Orellana, A, Bergh, FT, Wang, X, Hulsman, M, Beker, N, Tesi, N, Morris, CM, Indakoetxea, B, Collij, LE, Scherer, M, Morenas-Rodriguez, E, Ironside, JW, van Berckel, BNM, Alcolea, D, Wiendl, H, Strickland, SL, Pastor, P, Rodriguez, ER, Boeve, BF, Petersen, RC, Ferman, TJ, van Gerpen, JA, Reinders, MJT, Uitti, RJ, Tarraga, L, Maier, W, Dols-Icardo, O, Kawalia, A, Dalmasso, MC, Boada, M, Zettl, UK, van Schoor, NM, Beekman, M, Allen, M, Masliah, E, de Munain, AL, Pantelyat, A, Wszolek, ZK, Ross, OA, Dickson, DW, Graff-Radford, NR, Knopman, D, Rademakers, R, Lemstra, AW, Pijnenburg, YAL, Scheltens, P, Gasser, T, Chinnery, PF, Hemmer, B, Huisman, MA, Troncoso, J, Moreno, F, Nohr, EA, Sorensen, TIA, Heutink, P, Sanchez-Juan, P, Posthuma, D, Clarim?on, J, Christensen, K, Ertekin-Taner, N, Scholz, SW, Ramirez, A, Ruiz, A, Slagboom, E, van der Flier, WM, Holstege, H

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Publicada: 1 may 2020

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Filiaciones:
van der Lee, SJ:
 Vrije Univ Amsterdam, Amsterdam Neurosci, Alzheimer Ctr Amsterdam, Amsterdam UMC,Dept Neurol, Amsterdam, Netherlands

 Vrije Univ Amsterdam, Amsterdam UMC, Dept Clin Genet, Amsterdam, Netherlands

Conway, OJ:
 Mayo Clin Florida, Dept Neurosci, Jacksonville, FL 32224 USA

Jansen, I:
 Vrije Univ Amsterdam, Amsterdam Neurosci, Alzheimer Ctr Amsterdam, Amsterdam UMC,Dept Neurol, Amsterdam, Netherlands

 Vrije Univ Amsterdam, Ctr Neurogenom & Cognit Res, Amsterdam Neurosci, Dept Complex Trait Genet,Amsterdam UMC, Amsterdam, Netherlands

Carrasquillo, MM:
 Mayo Clin Florida, Dept Neurosci, Jacksonville, FL 32224 USA

Kleineidam, L:
 Univ Bonn, Dept Neurodegenerat Dis & Geriatr Psychiat, Bonn, Germany

 German Ctr Neurodegenerat Dis, DZNE, Bonn, Germany

 Univ Hosp Cologne, Dept Psychiat & Psychotherapy, Div Neurogenet & Mol Psychiat, Fac Med, Cologne, Germany

van den Akker, E:
 Leiden Univ, Mol Epidemiol, Med Ctr, Leiden, Netherlands

 Delft Univ Technol, Pattern Recognit & Bioinformat, Delft, Netherlands

Hernandez, I:
 Univ Int Catalunya, Res Ctr, Barcelona, Spain

 Univ Int Catalunya, Inst Catala Neurociencies Aplicades, Fdn ACE, Memory Clin, Barcelona, Spain

 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

van Eijk, KR:
 Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Dept Neurol, Utrecht, Netherlands

Stringa, N:
 Amsterdam UMC Vrije Univ Amsterdam, Dept Epidemiol & Biostat, Amsterdam Publ Hlth Res Inst, Amsterdam, Netherlands

Chen, JSA:
 Univ Calif Los Angeles, Interdept Program Bioinformat, Los Angeles, CA USA

Zettergren, A:
 Univ Gothenburg, Dept Psychiat & Neurochem, Ctr Ageing & Hlth AgeCap,Sahlgrenska Acad, Inst Neurosci & Physiol,Neuropsychiat Epidemiol U, Gothenburg, Sweden

Andlauer, TFM:
 Max Planck Inst Psychiat, Munich, Germany

 Tech Univ Munich, Klinikum Rechts Isar, Dept Neurol, Munich, Germany

 German Competence Network Multiple Sclerosis KKNM, Munich, Germany

Diez-Fairen, M:
 Univ Hosp Mutua Terrassa, Dept Neurol, Movement Disorders & Memory Unit, Barcelona, Spain

 Fundacio Recerca Biomed & Social Mutua Terrassa, Barcelona, Spain

Simon-Sanchez, J:
 DZNE Tubingen, German Ctr Neurodegenerat Dis, Tubingen, Germany

 Univ Tubingen, Hertie Inst Clin Brain Res, Tubingen, Germany

Lleo, A:
 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

 Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, IIB St Pau, Dept Neurol,Memory Unit, Barcelona, Spain

Zetterberg, H:
 Sahlgrens Univ Hosp, Clin Neurochem Lab, Molndal, Sweden

 Univ Gothenburg, Dept Psychiat & Neurochem, Inst Neurosci & Physiol, Sahlgrenska Acad, Gothenburg, Sweden

 UCL Inst Neurol, Dept Mol Neurosci, Queen Sq, London, England

Nygaard, M:
 Univ Southern Denmark, Danish Aging Res Ctr, Epidemiol Biostat & Biodemog, Dept Publ Hlth, Odense, Denmark

Blauwendraat, C:
 NINDS, Neurodegenerat Dis Res Unit, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA

Savage, JE:
 Vrije Univ Amsterdam, Ctr Neurogenom & Cognit Res, Amsterdam Neurosci, Dept Complex Trait Genet,Amsterdam UMC, Amsterdam, Netherlands

Mengel-From, J:
 Univ Southern Denmark, Dept Publ Hlth, Epidemiol Biostat & Biodemog, Odense, Denmark

Moreno-Grau, S:
 Univ Int Catalunya, Res Ctr, Barcelona, Spain

 Univ Int Catalunya, Inst Catala Neurociencies Aplicades, Fdn ACE, Memory Clin, Barcelona, Spain

Wagner, M:
 Univ Bonn, Dept Neurodegenerat Dis & Geriatr Psychiat, Bonn, Germany

 German Ctr Neurodegenerat Dis, DZNE, Bonn, Germany

Fortea, J:
 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

 Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, IIB St Pau, Dept Neurol,Memory Unit, Barcelona, Spain

Keogh, MJ:
 Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

 Univ Cambridge, Dept Clin Neurosci, Cambridge CB2 0QQ, England

Blennow, K:
 Sahlgrens Univ Hosp, Clin Neurochem Lab, Molndal, Sweden

 Univ Gothenburg, Dept Psychiat & Neurochem, Inst Neurosci & Physiol, Sahlgrenska Acad, Gothenburg, Sweden

Skoog, I:
 Univ Gothenburg, Dept Psychiat & Neurochem, Ctr Ageing & Hlth AgeCap,Sahlgrenska Acad, Inst Neurosci & Physiol,Neuropsychiat Epidemiol U, Gothenburg, Sweden

Friese, MA:
 German Competence Network Multiple Sclerosis KKNM, Munich, Germany

 Univ Klinikum Hamburg Eppendorf, Inst Neuroimmunol & Multiple Sklerose INIMS, Hamburg, Germany

Pletnikova, O:
 Johns Hopkins Univ, Med Ctr, Dept Pathol Neuropathol, Baltimore, MD 21218 USA

Zulaica, M:
 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

 Inst Biodonostia, San Sebastian, Spain

Lage, C:
 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

 Univ Hosp Marques de Valdecilla, Santander, Spain

 IDIVAL, Santander, Spain

de Rojas, I:
 Univ Int Catalunya, Res Ctr, Barcelona, Spain

 Univ Int Catalunya, Inst Catala Neurociencies Aplicades, Fdn ACE, Memory Clin, Barcelona, Spain

 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

Riedel-Heller, S:
 Univ Leipzig, Inst Social Med Occupat Hlth & Publ Hlth ISAP, Leipzig, Germany

Illan-Gala, I:
 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

 Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, IIB St Pau, Dept Neurol,Memory Unit, Barcelona, Spain

Wei, W:
 Univ Cambridge, Dept Clin Neurosci, Cambridge CB2 0QQ, England

Jeune, B:
 Univ Southern Denmark, Dept Publ Hlth, Epidemiol Biostat & Biodemog, Odense, Denmark

Orellana, A:
 Univ Int Catalunya, Res Ctr, Barcelona, Spain

 Univ Int Catalunya, Inst Catala Neurociencies Aplicades, Fdn ACE, Memory Clin, Barcelona, Spain

 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

Bergh, FT:
 German Competence Network Multiple Sclerosis KKNM, Munich, Germany

 Univ Leipzig, Dept Neurol, Leipzig, Germany

Wang, X:
 Mayo Clin Florida, Dept Neurosci, Jacksonville, FL 32224 USA

Hulsman, M:
 Vrije Univ Amsterdam, Amsterdam Neurosci, Alzheimer Ctr Amsterdam, Amsterdam UMC,Dept Neurol, Amsterdam, Netherlands

 Vrije Univ Amsterdam, Amsterdam UMC, Dept Clin Genet, Amsterdam, Netherlands

 Delft Univ Technol, Pattern Recognit & Bioinformat, Delft, Netherlands

Beker, N:
 Vrije Univ Amsterdam, Amsterdam Neurosci, Alzheimer Ctr Amsterdam, Amsterdam UMC,Dept Neurol, Amsterdam, Netherlands

Tesi, N:
 Vrije Univ Amsterdam, Amsterdam Neurosci, Alzheimer Ctr Amsterdam, Amsterdam UMC,Dept Neurol, Amsterdam, Netherlands

 Vrije Univ Amsterdam, Amsterdam UMC, Dept Clin Genet, Amsterdam, Netherlands

 Delft Univ Technol, Pattern Recognit & Bioinformat, Delft, Netherlands

Morris, CM:
 Newcastle Univ, Newcastle Brain Tissue Resource, Inst Neurosci, Edwardson Bldg, Newcastle Upon Tyne NE4 5PL, Tyne & Wear, England

Indakoetxea, B:
 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

 Inst Biodonostia, San Sebastian, Spain

 Hosp Univ San Sebastian, Dept Neurol, Cognit Disorders Unit, San Sebastian, Spain

Collij, LE:
 Vrije Univ Amsterdam, Amsterdam Neurosci, Dept Radiol & Nucl Med, Amsterdam UMC, Amsterdam, Netherlands

Scherer, M:
 Univ Med Ctr, Ctr Psychosocial Med, Dept Primary Med Care, Hamburg, Germany

Morenas-Rodriguez, E:
 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

 Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, IIB St Pau, Dept Neurol,Memory Unit, Barcelona, Spain

Ironside, JW:
 Univ Edinburgh, Ctr Clin Brain Sci, Edinburgh EH4 2XU, Midlothian, Scotland

van Berckel, BNM:
 Vrije Univ Amsterdam, Amsterdam Neurosci, Dept Radiol & Nucl Med, Amsterdam UMC, Amsterdam, Netherlands

Alcolea, D:
 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

 Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, IIB St Pau, Dept Neurol,Memory Unit, Barcelona, Spain

Wiendl, H:
 German Competence Network Multiple Sclerosis KKNM, Munich, Germany

 Univ Munster, Neurol Klin, Inst Translat Neurol, Dept Neurol, Munster, Germany

Strickland, SL:
 Mayo Clin Florida, Dept Neurosci, Jacksonville, FL 32224 USA

Pastor, P:
 Univ Hosp Mutua Terrassa, Dept Neurol, Movement Disorders & Memory Unit, Barcelona, Spain

 Fundacio Recerca Biomed & Social Mutua Terrassa, Barcelona, Spain

Rodriguez, ER:
 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

 Univ Hosp Marques de Valdecilla, Santander, Spain

 IDIVAL, Santander, Spain

Boeve, BF:
 Mayo Clin Minnesota, Dept Neurol, Rochester, MN 55905 USA

Petersen, RC:
 Mayo Clin Minnesota, Dept Neurol, Rochester, MN 55905 USA

Ferman, TJ:
 Mayo Clin Florida, Dept Psychiat & Psychol, Jacksonville, FL 32224 USA

van Gerpen, JA:
 Mayo Clin Florida, Dept Neurol, Jacksonville, FL 32224 USA

Reinders, MJT:
 Delft Univ Technol, Delft Bioinformat Lab, Delft, Netherlands

Uitti, RJ:
 Mayo Clin Florida, Dept Neurol, Jacksonville, FL 32224 USA

Tarraga, L:
 Univ Int Catalunya, Res Ctr, Barcelona, Spain

 Univ Int Catalunya, Inst Catala Neurociencies Aplicades, Fdn ACE, Memory Clin, Barcelona, Spain

 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

Maier, W:
 Univ Bonn, Dept Neurodegenerat Dis & Geriatr Psychiat, Bonn, Germany

 German Ctr Neurodegenerat Dis, DZNE, Bonn, Germany

Dols-Icardo, O:
 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

 Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, IIB St Pau, Dept Neurol,Memory Unit, Barcelona, Spain

Kawalia, A:
 Univ Hosp Cologne, Dept Psychiat & Psychotherapy, Div Neurogenet & Mol Psychiat, Fac Med, Cologne, Germany

Dalmasso, MC:
 Univ Hosp Cologne, Dept Psychiat & Psychotherapy, Div Neurogenet & Mol Psychiat, Fac Med, Cologne, Germany

 Univ Southern Denmark, Danish Aging Res Ctr, Epidemiol Biostat & Biodemog, Dept Publ Hlth, Odense, Denmark

 Consejo Nacl Invest Cient & Tecn, IIBBA, Fdn Inst Leloir, Buenos Aires, DF, Argentina

Boada, M:
 Univ Int Catalunya, Res Ctr, Barcelona, Spain

 Univ Int Catalunya, Inst Catala Neurociencies Aplicades, Fdn ACE, Memory Clin, Barcelona, Spain

 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

Zettl, UK:
 German Competence Network Multiple Sclerosis KKNM, Munich, Germany

 Univ Rostock, Dept Neurol, Rostock, Germany

van Schoor, NM:
 Amsterdam UMC Vrije Univ Amsterdam, Dept Epidemiol & Biostat, Amsterdam Publ Hlth Res Inst, Amsterdam, Netherlands

Beekman, M:
 Leiden Univ, Mol Epidemiol, Med Ctr, Leiden, Netherlands

Allen, M:
 Mayo Clin Florida, Dept Neurosci, Jacksonville, FL 32224 USA

Masliah, E:
 NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

de Munain, AL:
 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

 Inst Biodonostia, San Sebastian, Spain

 Hosp Univ San Sebastian, Dept Neurol, San Sebastian, Spain

Pantelyat, A:
 Johns Hopkins Univ, Dept Neurol, Med Ctr, Baltimore, MD 21287 USA

Wszolek, ZK:
 Mayo Clin Florida, Dept Neurol, Jacksonville, FL 32224 USA

Ross, OA:
 Mayo Clin Florida, Dept Neurosci, Jacksonville, FL 32224 USA

Dickson, DW:
 Mayo Clin Florida, Dept Neurosci, Jacksonville, FL 32224 USA

Graff-Radford, NR:
 Mayo Clin Florida, Dept Neurol, Jacksonville, FL 32224 USA

Knopman, D:
 Mayo Clin Minnesota, Dept Neurol, Rochester, MN 55905 USA

Rademakers, R:
 Mayo Clin Florida, Dept Neurosci, Jacksonville, FL 32224 USA

Lemstra, AW:
 Vrije Univ Amsterdam, Amsterdam Neurosci, Alzheimer Ctr Amsterdam, Amsterdam UMC,Dept Neurol, Amsterdam, Netherlands

Pijnenburg, YAL:
 Vrije Univ Amsterdam, Amsterdam Neurosci, Alzheimer Ctr Amsterdam, Amsterdam UMC,Dept Neurol, Amsterdam, Netherlands

Scheltens, P:
 Vrije Univ Amsterdam, Amsterdam Neurosci, Alzheimer Ctr Amsterdam, Amsterdam UMC,Dept Neurol, Amsterdam, Netherlands

Gasser, T:
 Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, Ctr Neurol, Tubingen, Germany

Chinnery, PF:
 Univ Cambridge, Dept Clin Neurosci, Cambridge CB2 0QQ, England

 Univ Cambridge, MRC Mitochondrial Biol Unit, Cambridge CB2 0QQ, England

Hemmer, B:
 Tech Univ Munich, Klinikum Rechts Isar, Dept Neurol, Munich, Germany

 German Competence Network Multiple Sclerosis KKNM, Munich, Germany

 Munich Cluster Syst Neurol SyNergy, Munich, Germany

Huisman, MA:
 Amsterdam UMC Vrije Univ Amsterdam, Dept Epidemiol & Biostat, Amsterdam Publ Hlth Res Inst, Amsterdam, Netherlands

 Vrije Univ Amsterdam, Dept Sociol, Amsterdam, Netherlands

Troncoso, J:
 Johns Hopkins Univ, Med Ctr, Dept Pathol Neuropathol, Baltimore, MD 21218 USA

Moreno, F:
 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

 Inst Biodonostia, San Sebastian, Spain

 Hosp Univ San Sebastian, Dept Neurol, Cognit Disorders Unit, San Sebastian, Spain

Nohr, EA:
 Univ Southern Denmark, Dept Clin Res, Res Unit Gynecol & Obstet, Odense, Denmark

Sorensen, TIA:
 Novo Nordisk Fdn, Ctr Basic Metab Res, Sect Metab Genet, Copenhagen, Denmark

 Univ Copenhagen, Fac Hlth & Med Sci, Dept Publ Hlth, Epidemiol Sect, Copenhagen, Denmark

Heutink, P:
 DZNE Tubingen, German Ctr Neurodegenerat Dis, Tubingen, Germany

 Univ Tubingen, Hertie Inst Clin Brain Res, Tubingen, Germany

Sanchez-Juan, P:
 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

 Univ Hosp Marques de Valdecilla, Santander, Spain

 IDIVAL, Santander, Spain

Posthuma, D:
 Vrije Univ Amsterdam, Amsterdam UMC, Dept Clin Genet, Amsterdam, Netherlands

 Vrije Univ Amsterdam, Ctr Neurogenom & Cognit Res, Amsterdam Neurosci, Dept Complex Trait Genet,Amsterdam UMC, Amsterdam, Netherlands

Clarim?on, J:
 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

 Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, IIB St Pau, Dept Neurol,Memory Unit, Barcelona, Spain

Christensen, K:
 Univ Southern Denmark, Danish Aging Res Ctr, Epidemiol Biostat & Biodemog, Dept Publ Hlth, Odense, Denmark

 Odense Univ Hosp, Clin Biochem & Pharmacol, Odense, Denmark

 Odense Univ Hosp, Dept Clin Genet, Odense, Denmark

Ertekin-Taner, N:
 Mayo Clin Florida, Dept Neurosci, Jacksonville, FL 32224 USA

 Mayo Clin Florida, Dept Neurol, Jacksonville, FL 32224 USA

Scholz, SW:
 NINDS, Neurodegenerat Dis Res Unit, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA

 Johns Hopkins Univ, Dept Neurol, Med Ctr, Baltimore, MD 21287 USA

Ramirez, A:
 Univ Bonn, Dept Neurodegenerat Dis & Geriatr Psychiat, Bonn, Germany

 Univ Hosp Cologne, Dept Psychiat & Psychotherapy, Div Neurogenet & Mol Psychiat, Fac Med, Cologne, Germany

Ruiz, A:
 Univ Int Catalunya, Res Ctr, Barcelona, Spain

 Univ Int Catalunya, Inst Catala Neurociencies Aplicades, Fdn ACE, Memory Clin, Barcelona, Spain

 Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain

Slagboom, E:
 Leiden Univ, Mol Epidemiol, Med Ctr, Leiden, Netherlands

 Dutch Soc Res Ageing, Leiden, Netherlands

van der Flier, WM:
 Vrije Univ Amsterdam, Amsterdam Neurosci, Alzheimer Ctr Amsterdam, Amsterdam UMC,Dept Neurol, Amsterdam, Netherlands

Holstege, H:
 Vrije Univ Amsterdam, Amsterdam Neurosci, Alzheimer Ctr Amsterdam, Amsterdam UMC,Dept Neurol, Amsterdam, Netherlands

 Vrije Univ Amsterdam, Amsterdam UMC, Dept Clin Genet, Amsterdam, Netherlands

Univ Bristol, MRC Integrat Epidemiol Unit, Bristol, Avon, England.