TY - JOUR
T1 - Prevalence of GBA p.K198E mutation in Colombian and Hispanic populations
AU - Tipton, Philip W.
AU - Soto-Beasley, Alexandra I.
AU - Walton, Ronald L.
AU - Soler-Rangel, Silvia
AU - Romero-Osorio, Óscar
AU - Díaz, Cindy
AU - Moreno-López, Claudia Lucía
AU - Ross, Owen A.
AU - Wszolek, Zbigniew K.
AU - Cerquera-Cleves, Catalina
N1 - Funding Information:
Dr. Ross: received support from R01 NS078086, P50 NS072187, U54 NS100693, U54 NS110435, the US Department of Defense (W81XWH-17-1-0249), the Mayo Clinic LBD Functional Genomics Program, The Little Family Foundation, and the Michael J. Fox Foundation. O.A.R. is an editorial board member of American Journal of Neurodegenerative Disease, Frontiers of Neurology: Neurogenetics and Molecular Neurodegeneration.Dr. Wszolek: ZKW is partially supported by the Mayo Clinic Center for Regenerative Medicine, the gifts from The Sol Goldman Charitable Trust, and the Donald G. and Jodi P. Heeringa Family, the Haworth Family Professorship in Neurodegenerative Diseases fund, and The Albertson Parkinson's Research Foundation. He serves as PI or Co-PI on Abbvie, Inc. (M15-562, M15-563, and laboratory based grant), Biogen, Inc. (228PD201), and BioHaven Pharmaceuticals, Inc. (BHV4157-206 and BHV3241-301) grants. He serves as PI of the Mayo Clinic American Parkinson Disease Association (APDA) Information and Referral Center, and as Co-PI of the Mayo Clinic APDA Center for Advanced Research.
Funding Information:
Dr. Wszolek: ZKW is partially supported by the Mayo Clinic Center for Regenerative Medicine , the gifts from The Sol Goldman Charitable Trust , and the Donald G. and Jodi P. Heeringa Family, the Haworth Family Professorship in Neurodegenerative Diseases fund, and The Albertson Parkinson's Research Foundation . He serves as PI or Co-PI on Abbvie, Inc. ( M15-562 , M15-563 , and laboratory based grant), Biogen, Inc. (228PD201), and BioHaven Pharmaceuticals, Inc. ( BHV4157-206 and BHV3241-301 ) grants. He serves as PI of the Mayo Clinic American Parkinson Disease Association (APDA) Information and Referral Center, and as Co-PI of the Mayo Clinic APDA Center for Advanced Research.
Funding Information:
Dr. Ross: received support from R01 NS078086 , P50 NS072187 , U54 NS100693 , U54 NS110435 , the US Department of Defense ( W81XWH-17-1-0249 ), the Mayo Clinic LBD Functional Genomics Program , The Little Family Foundation , and the Michael J. Fox Foundation . O.A.R. is an editorial board member of American Journal of Neurodegenerative Disease, Frontiers of Neurology: Neurogenetics and Molecular Neurodegeneration.
Publisher Copyright:
© 2020
PY - 2020/4
Y1 - 2020/4
N2 - We aimed to replicate a recent study that found a high frequency of the GBA p.K198E mutant in Colombian patients with PD. We identified the p.K198E substitution at a lower frequency in our cohort of Colombians with PD (2.1%), and this was not significantly different than controls (1.7%, P = 0.86) emphasizing the need for larger genetic studies in Latin America.
AB - We aimed to replicate a recent study that found a high frequency of the GBA p.K198E mutant in Colombian patients with PD. We identified the p.K198E substitution at a lower frequency in our cohort of Colombians with PD (2.1%), and this was not significantly different than controls (1.7%, P = 0.86) emphasizing the need for larger genetic studies in Latin America.
KW - GBA
KW - Gaucher's disease
KW - Genetics
KW - Parkinson's disease
UR - http://www.scopus.com/inward/record.url?scp=85081688880&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85081688880&partnerID=8YFLogxK
U2 - 10.1016/j.parkreldis.2020.03.008
DO - 10.1016/j.parkreldis.2020.03.008
M3 - Letter
C2 - 32197197
AN - SCOPUS:85081688880
SN - 1353-8020
VL - 73
SP - 16
EP - 18
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
ER -