Polygenic Risk of Spasmodic Dysphonia is Associated With Vulnerable Sensorimotor Connectivity

• Published in: Cerebral cortex (New York, N.Y. 1991) Vol. 28; no. 1; pp. 158 - 166
• Main Authors: Putzel, Gregory Garbès, Battistella, Giovanni, Rumbach, Anna F, Ozelius, Laurie J, Sabuncu, Mert R, Simonyan, Kristina
• Format: Journal Article
• Language: English
• Published: United States Oxford University Press 01.01.2018
• Subjects: Brain Mapping; Dysphonia - diagnostic imaging; Dysphonia - genetics; Dysphonia - physiopathology; Exome Sequencing; Female; Genetic Predisposition to Disease; Genetic Variation; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Multifactorial Inheritance; Neural Pathways - diagnostic imaging; Neural Pathways - physiopathology; Original; Rest; Sensorimotor Cortex - diagnostic imaging; Sensorimotor Cortex - physiopathology; dystonia; genetic risk; imaging marker

Abstract Spasmodic dysphonia (SD), or laryngeal dystonia, is an isolated task-specific dystonia of unknown causes and pathophysiology that selectively affects speech production. Using next-generation whole-exome sequencing in SD patients, we computed polygenic risk score from 1804 genetic markers ba...