Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

Cornelis Blauwendraat; Demis A. Kia; Lasse Pihlstrøm; Ziv Gan-Or; Suzanne Lesage; J. Raphael Gibbs; Jinhui Ding; Roy N. Alcalay; Sharon Hassin-Baer; Alan M. Pittman; Janet Brooks; Connor Edsall; Sun Ju Chung; Stefano Goldwurm; Mathias Toft; Claudia Schulte; Dena Hernandez; Andrew B. Singleton; Mike A. Nalls; Alexis Brice; Sonja W. Scholz; Nicholas W. Wood; Alastair J. Noyce; Arianna Tucci; Gavin Charlesworth; Manuela Tan; Henry Houlden; Huw R. Morris; Helene Plun-Favreau; Peter Holmans; John Hardy; Jose M. Bras; John Quinn; Kin Y. Mok; Kimberley Billingsley; Patrick Lewis; Rita Guerreiro; Ruth Lovering; Raquel Duran Ogalla; Lea R’bibo; Mina Ryten; Valentina Escott-Price; Viorica Chelban; Thomas Foltynie; Una Marie Sheerin; Nigel Williams; Fabrice Danjou; Jean Christophe Corvol; Maria Martinez; Anamika Giri; Angelika Oehmig; Kathrin Brockmann; Javier Simón-Sánchez; Peter Heutink; Patrizia Rizzu; Manu Sharma; Thomas Gasser; Aude Nicolas; Mark R. Cookson; Sara Bandres-Ciga; Faraz Faghri; Joshua M. Shulman; Laurie Robak; Steven Lubbe; Steven Finkbeiner; Niccolo E. Mencacci; Codrin Lungu; Xylena Reed; Guy A. Rouleau; Jacobus J.van Hilten; Johan Marinus; Juan A. Botía; Jordi Clarimón; Oriol Dols-Icardo; Jaime Kulisevsky; Javier Pagonabarraga; Juan Marín; Lasse Pihlstrøm; Sulev Koks; Pille Taba; Rejko Krüger; Lisa Wang; Wolfgang Oertel; Christine Klein; Fatima Mohamed; Fanny Artaud; Alexis Elbaz; Olga Corti; Valérie Drouet; Silvana Tesei; Margherita Canesi; Enza Maria Valente; Simona Petrucci; Monia Ginevrino; Jan Aasly; Camilla Sætehaug; Sandra Pilar Henriksen; Avi Orr-Urtreger; Nir Giladi; Joaquim Ferreira

doi:10.1016/j.neurobiolaging.2017.12.012

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

Cornelis Blauwendraat, Demis A. Kia, Lasse Pihlstrøm, Ziv Gan-Or, Suzanne Lesage, J. Raphael Gibbs, Jinhui Ding, Roy N. Alcalay, Sharon Hassin-Baer, Alan M. Pittman, Janet Brooks, Connor Edsall, Sun Ju Chung, Stefano Goldwurm, Mathias Toft, Claudia Schulte, Dena Hernandez, Andrew B. Singleton, Mike A. Nalls, Alexis BriceSonja W. Scholz, Nicholas W. Wood, Alastair J. Noyce, Arianna Tucci, Gavin Charlesworth, Manuela Tan, Henry Houlden, Huw R. Morris, Helene Plun-Favreau, Peter Holmans, John Hardy, Jose M. Bras, John Quinn, Kin Y. Mok, Kimberley Billingsley, Patrick Lewis, Rita Guerreiro, Ruth Lovering, Raquel Duran Ogalla, Lea R’bibo, Mina Ryten, Valentina Escott-Price, Viorica Chelban, Thomas Foltynie, Una Marie Sheerin, Nigel Williams, Fabrice Danjou, Jean Christophe Corvol, Maria Martinez, Anamika Giri, Angelika Oehmig, Kathrin Brockmann, Javier Simón-Sánchez, Peter Heutink, Patrizia Rizzu, Manu Sharma, Thomas Gasser, Aude Nicolas, Mark R. Cookson, Sara Bandres-Ciga, Faraz Faghri, Joshua M. Shulman, Laurie Robak, Steven Lubbe, Steven Finkbeiner, Niccolo E. Mencacci, Codrin Lungu, Xylena Reed, Guy A. Rouleau, Jacobus J.van Hilten, Johan Marinus, Juan A. Botía, Jordi Clarimón, Oriol Dols-Icardo, Jaime Kulisevsky, Javier Pagonabarraga, Juan Marín, Lasse Pihlstrøm, Sulev Koks, Pille Taba, Rejko Krüger, Lisa Wang, Wolfgang Oertel, Christine Klein, Fatima Mohamed, Fanny Artaud, Alexis Elbaz, Olga Corti, Valérie Drouet, Silvana Tesei, Margherita Canesi, Enza Maria Valente, Simona Petrucci, Monia Ginevrino, Jan Aasly, Camilla Sætehaug, Sandra Pilar Henriksen, Avi Orr-Urtreger, Nir Giladi, Joaquim Ferreira

Departament de Medicina

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Resum

© 2017 SNCA missense mutations are a rare cause of autosomal dominant Parkinson's disease (PD). To date, 6 missense mutations in SNCA have been nominated as causal. Here, we assess the frequency of these 6 mutations in public population databases and PD case-control data sets to determine their true pathogenicity. We found that 1 of the 6 reported SNCA mutations, His50Gln, was consistently identified in large population databases, and no enrichment was evident in PD cases compared to controls. These results suggest that His50Gln is probably not a pathogenic variant. This information is important to provide counseling for His50Gln carriers and has implications for the interpretation of His50Gln α-synuclein functional investigations.

Idioma original	Anglès
Pàgines (de-a)	159.e5-159.e8
Revista	Neurobiology of Aging
Volum	64
DOIs	https://doi.org/10.1016/j.neurobiolaging.2017.12.012
Estat de la publicació	Publicada - 1 d’abr. 2018

Accés al document

10.1016/j.neurobiolaging.2017.12.012

Com citar-ho

Blauwendraat, C., Kia, D. A., Pihlstrøm, L., Gan-Or, Z., Lesage, S., Gibbs, J. R., Ding, J., Alcalay, R. N., Hassin-Baer, S., Pittman, A. M., Brooks, J., Edsall, C., Chung, S. J., Goldwurm, S., Toft, M., Schulte, C., Hernandez, D., Singleton, A. B., Nalls, M. A., ... Ferreira, J. (2018). Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease. Neurobiology of Aging, 64, 159.e5-159.e8. https://doi.org/10.1016/j.neurobiolaging.2017.12.012

@article{1fc06d99ac7c4847a65c70c296eace43,

title = "Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease",

abstract = "{\textcopyright} 2017 SNCA missense mutations are a rare cause of autosomal dominant Parkinson's disease (PD). To date, 6 missense mutations in SNCA have been nominated as causal. Here, we assess the frequency of these 6 mutations in public population databases and PD case-control data sets to determine their true pathogenicity. We found that 1 of the 6 reported SNCA mutations, His50Gln, was consistently identified in large population databases, and no enrichment was evident in PD cases compared to controls. These results suggest that His50Gln is probably not a pathogenic variant. This information is important to provide counseling for His50Gln carriers and has implications for the interpretation of His50Gln α-synuclein functional investigations.",

keywords = "H50Q, His50Gln, Parkinson's disease, SNCA",

author = "Cornelis Blauwendraat and Kia, {Demis A.} and Lasse Pihlstr{\o}m and Ziv Gan-Or and Suzanne Lesage and Gibbs, {J. Raphael} and Jinhui Ding and Alcalay, {Roy N.} and Sharon Hassin-Baer and Pittman, {Alan M.} and Janet Brooks and Connor Edsall and Chung, {Sun Ju} and Stefano Goldwurm and Mathias Toft and Claudia Schulte and Dena Hernandez and Singleton, {Andrew B.} and Nalls, {Mike A.} and Alexis Brice and Scholz, {Sonja W.} and Wood, {Nicholas W.} and Noyce, {Alastair J.} and Arianna Tucci and Gavin Charlesworth and Manuela Tan and Henry Houlden and Morris, {Huw R.} and Helene Plun-Favreau and Peter Holmans and John Hardy and Bras, {Jose M.} and John Quinn and Mok, {Kin Y.} and Kimberley Billingsley and Patrick Lewis and Rita Guerreiro and Ruth Lovering and Ogalla, {Raquel Duran} and Lea R{\textquoteright}bibo and Mina Ryten and Valentina Escott-Price and Viorica Chelban and Thomas Foltynie and Sheerin, {Una Marie} and Nigel Williams and Fabrice Danjou and Corvol, {Jean Christophe} and Maria Martinez and Anamika Giri and Angelika Oehmig and Kathrin Brockmann and Javier Sim{\'o}n-S{\'a}nchez and Peter Heutink and Patrizia Rizzu and Manu Sharma and Thomas Gasser and Aude Nicolas and Cookson, {Mark R.} and Sara Bandres-Ciga and Faraz Faghri and Shulman, {Joshua M.} and Laurie Robak and Steven Lubbe and Steven Finkbeiner and Mencacci, {Niccolo E.} and Codrin Lungu and Xylena Reed and Rouleau, {Guy A.} and Hilten, {Jacobus J.van} and Johan Marinus and Bot{\'i}a, {Juan A.} and Jordi Clarim{\'o}n and Oriol Dols-Icardo and Jaime Kulisevsky and Javier Pagonabarraga and Juan Mar{\'i}n and Lasse Pihlstr{\o}m and Sulev Koks and Pille Taba and Rejko Kr{\"u}ger and Lisa Wang and Wolfgang Oertel and Christine Klein and Fatima Mohamed and Fanny Artaud and Alexis Elbaz and Olga Corti and Val{\'e}rie Drouet and Silvana Tesei and Margherita Canesi and Valente, {Enza Maria} and Simona Petrucci and Monia Ginevrino and Jan Aasly and Camilla S{\ae}tehaug and Henriksen, {Sandra Pilar} and Avi Orr-Urtreger and Nir Giladi and Joaquim Ferreira",

year = "2018",

month = apr,

day = "1",

doi = "10.1016/j.neurobiolaging.2017.12.012",

language = "English",

volume = "64",

pages = "159.e5--159.e8",

journal = "Neurobiology of Aging",

issn = "0197-4580",

publisher = "Elsevier Inc.",

}

Blauwendraat, C, Kia, DA, Pihlstrøm, L, Gan-Or, Z, Lesage, S, Gibbs, JR, Ding, J, Alcalay, RN, Hassin-Baer, S, Pittman, AM, Brooks, J, Edsall, C, Chung, SJ, Goldwurm, S, Toft, M, Schulte, C, Hernandez, D, Singleton, AB, Nalls, MA, Brice, A, Scholz, SW, Wood, NW, Noyce, AJ, Tucci, A, Charlesworth, G, Tan, M, Houlden, H, Morris, HR, Plun-Favreau, H, Holmans, P, Hardy, J, Bras, JM, Quinn, J, Mok, KY, Billingsley, K, Lewis, P, Guerreiro, R, Lovering, R, Ogalla, RD, R’bibo, L, Ryten, M, Escott-Price, V, Chelban, V, Foltynie, T, Sheerin, UM, Williams, N, Danjou, F, Corvol, JC, Martinez, M, Giri, A, Oehmig, A, Brockmann, K, Simón-Sánchez, J, Heutink, P, Rizzu, P, Sharma, M, Gasser, T, Nicolas, A, Cookson, MR, Bandres-Ciga, S, Faghri, F, Shulman, JM, Robak, L, Lubbe, S, Finkbeiner, S, Mencacci, NE, Lungu, C, Reed, X, Rouleau, GA, Hilten, JJV, Marinus, J, Botía, JA, Clarimón, J, Dols-Icardo, O, Kulisevsky, J , Pagonabarraga, J, Marín, J, Pihlstrøm, L, Koks, S, Taba, P, Krüger, R, Wang, L, Oertel, W, Klein, C, Mohamed, F, Artaud, F, Elbaz, A, Corti, O, Drouet, V, Tesei, S, Canesi, M, Valente, EM, Petrucci, S, Ginevrino, M, Aasly, J, Sætehaug, C, Henriksen, SP, Orr-Urtreger, A, Giladi, N & Ferreira, J 2018, 'Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease', Neurobiology of Aging, vol. 64, pàg. 159.e5-159.e8. https://doi.org/10.1016/j.neurobiolaging.2017.12.012

TY - JOUR

T1 - Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

AU - Blauwendraat, Cornelis

AU - Kia, Demis A.

AU - Pihlstrøm, Lasse

AU - Gan-Or, Ziv

AU - Lesage, Suzanne

AU - Gibbs, J. Raphael

AU - Ding, Jinhui

AU - Alcalay, Roy N.

AU - Hassin-Baer, Sharon

AU - Pittman, Alan M.

AU - Brooks, Janet

AU - Edsall, Connor

AU - Chung, Sun Ju

AU - Goldwurm, Stefano

AU - Toft, Mathias

AU - Schulte, Claudia

AU - Hernandez, Dena

AU - Singleton, Andrew B.

AU - Nalls, Mike A.

AU - Brice, Alexis

AU - Scholz, Sonja W.

AU - Wood, Nicholas W.

AU - Noyce, Alastair J.

AU - Tucci, Arianna

AU - Charlesworth, Gavin

AU - Tan, Manuela

AU - Houlden, Henry

AU - Morris, Huw R.

AU - Plun-Favreau, Helene

AU - Holmans, Peter

AU - Hardy, John

AU - Bras, Jose M.

AU - Quinn, John

AU - Mok, Kin Y.

AU - Billingsley, Kimberley

AU - Lewis, Patrick

AU - Guerreiro, Rita

AU - Lovering, Ruth

AU - Ogalla, Raquel Duran

AU - R’bibo, Lea

AU - Ryten, Mina

AU - Escott-Price, Valentina

AU - Chelban, Viorica

AU - Foltynie, Thomas

AU - Sheerin, Una Marie

AU - Williams, Nigel

AU - Danjou, Fabrice

AU - Corvol, Jean Christophe

AU - Martinez, Maria

AU - Giri, Anamika

AU - Oehmig, Angelika

AU - Brockmann, Kathrin

AU - Simón-Sánchez, Javier

AU - Heutink, Peter

AU - Rizzu, Patrizia

AU - Sharma, Manu

AU - Gasser, Thomas

AU - Nicolas, Aude

AU - Cookson, Mark R.

AU - Bandres-Ciga, Sara

AU - Faghri, Faraz

AU - Shulman, Joshua M.

AU - Robak, Laurie

AU - Lubbe, Steven

AU - Finkbeiner, Steven

AU - Mencacci, Niccolo E.

AU - Lungu, Codrin

AU - Reed, Xylena

AU - Rouleau, Guy A.

AU - Hilten, Jacobus J.van

AU - Marinus, Johan

AU - Botía, Juan A.

AU - Clarimón, Jordi

AU - Dols-Icardo, Oriol

AU - Kulisevsky, Jaime

AU - Pagonabarraga, Javier

AU - Marín, Juan

AU - Pihlstrøm, Lasse

AU - Koks, Sulev

AU - Taba, Pille

AU - Krüger, Rejko

AU - Wang, Lisa

AU - Oertel, Wolfgang

AU - Klein, Christine

AU - Mohamed, Fatima

AU - Artaud, Fanny

AU - Elbaz, Alexis

AU - Corti, Olga

AU - Drouet, Valérie

AU - Tesei, Silvana

AU - Canesi, Margherita

AU - Valente, Enza Maria

AU - Petrucci, Simona

AU - Ginevrino, Monia

AU - Aasly, Jan

AU - Sætehaug, Camilla

AU - Henriksen, Sandra Pilar

AU - Orr-Urtreger, Avi

AU - Giladi, Nir

AU - Ferreira, Joaquim

PY - 2018/4/1

Y1 - 2018/4/1

N2 - © 2017 SNCA missense mutations are a rare cause of autosomal dominant Parkinson's disease (PD). To date, 6 missense mutations in SNCA have been nominated as causal. Here, we assess the frequency of these 6 mutations in public population databases and PD case-control data sets to determine their true pathogenicity. We found that 1 of the 6 reported SNCA mutations, His50Gln, was consistently identified in large population databases, and no enrichment was evident in PD cases compared to controls. These results suggest that His50Gln is probably not a pathogenic variant. This information is important to provide counseling for His50Gln carriers and has implications for the interpretation of His50Gln α-synuclein functional investigations.

AB - © 2017 SNCA missense mutations are a rare cause of autosomal dominant Parkinson's disease (PD). To date, 6 missense mutations in SNCA have been nominated as causal. Here, we assess the frequency of these 6 mutations in public population databases and PD case-control data sets to determine their true pathogenicity. We found that 1 of the 6 reported SNCA mutations, His50Gln, was consistently identified in large population databases, and no enrichment was evident in PD cases compared to controls. These results suggest that His50Gln is probably not a pathogenic variant. This information is important to provide counseling for His50Gln carriers and has implications for the interpretation of His50Gln α-synuclein functional investigations.

KW - H50Q

KW - His50Gln

KW - Parkinson's disease

KW - SNCA

U2 - 10.1016/j.neurobiolaging.2017.12.012

DO - 10.1016/j.neurobiolaging.2017.12.012

M3 - Article

SN - 0197-4580

VL - 64

SP - 159.e5-159.e8

JO - Neurobiology of Aging

JF - Neurobiology of Aging

ER -

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

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