Prevalence of GBA p.K198E mutation in Colombian and Hispanic populations

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) em...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Parkinsonism & related disorders 2020-04, Vol.73, p.16-18
Hauptverfasser:	Tipton, Philip W., Soto-Beasley, Alexandra I., Walton, Ronald L., Soler-Rangel, Silvia, Romero-Osorio, Óscar, Díaz, Cindy, Moreno-López, Claudia Lucía, Ross, Owen A., Wszolek, Zbigniew K., Cerquera-Cleves, Catalina
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Aged, 80 and over Clinical Neurology Colombia - ethnology Female Gaucher's disease GBA Genetics Glucosylceramidase - genetics Hispanic Americans - genetics Humans Life Sciences & Biomedicine Male Middle Aged Mutation Neurosciences & Neurology Parkinson Disease - ethnology Parkinson Disease - genetics Parkinson's disease Science & Technology United States - ethnology
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	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.
ISSN:	1353-8020 1873-5126
DOI:	10.1016/j.parkreldis.2020.03.008