Spatial Discrimination Threshold Abnormalities are not Detected in a Pilot Study of DYT6 Dystonia Mutation Carriers

Tremor and Other Hyperkinetic Movements

article

Andres F. Deik¹  Sean O’Riordan²  Marta San Luciano³  Vicki L. Shanker¹  Deborah Raymond¹  Susan B. Bressman¹  Rachel Saunders-Pullman¹ 

[1] Department of Neurology, Beth Israel Medical Center;St. Vincent’s University Hospital;Department of Neurology at the University of California;Department of Neurology, Albert Einstein College of Medicine

关键词: DYT6;    DYT1;    dystonia;    sensory discrimination threshold;   

DOI  :  10.5334/tohm.92

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 摘 要 】

Background: Spatial discrimination thresholds (SDTs) assess somatosensory integration, and provide a window into better understanding the pathophysiology of dystonia. They are abnormal in some focal dystonias, but normal in DYT1 dystonia. It is unknown whether SDTs are altered in DYT6 gene mutation carriers (C). Methods: SDTs were assessed in 17 DYT6 C (including eight manifesting carriers), 15 DYT1 C (including seven manifesting carriers) and 34 controls, using a standardized grating orientation task. Subjects were asked to recognize the orientation of Johnson–Van Boven–Philips (JVP) dome gratings on either index fingertip until 40% or more answers were incorrect. SDTs between indexes were calculated and averaged, with a final SDT assigned to each subject, and tertiles for control SDTs were constructed. Results: SDTs of DYT6 C or DYT1 C were comparable to those of controls, and not more likely to be in the worst tertile (p=0.8 for DYT6 C vs. controls and p=1.0 for DYT1 C vs. controls). This was independent of gene expression. Discussion: DYT6 carriers do not have impaired SDTs with the JVP dome paradigm. The normal SDT pattern thus suggests shared sensory physiologic patterns with DYT1 dystonia.

【 授权许可】

CC BY