Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia

Conclusion Genetic screening targeted at currently known disease-causing mutations in TOR1A, THAP1, and TUBB4 appears to have low diagnostic yield in sporadic spasmodic dysphonia. In our cohort, only 2 patients tested positive for novel/rare variants in THAP1. Clinicians should make use of genetic testing judiciously and in cost-effective ways.

http://oto.sagepub.com/cgi/content/abstract/155/4/624?rss=1

Source: Otolaryngology - Head and Neck Surgery - September 27, 2016 Category: ENT & OMF Authors: de Gusmao, C. M., Fuchs, T., Moses, A., Multhaupt-Buell, T., Song, P. C., Ozelius, L. J., Franco, R. A., Sharma, N. Tags: Laryngology and Neurolaryngology Source Type: research