Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia)

Recently, mutations in the collagen gene COL6A3 have been reported in patients with autosomal-recessive, isolated dystonia (DYT27). Zebrafish models of COL6A3 mutations showed deficits in axonal targeting mechanisms. Therefore, COL6A3 mutations have been considered to contribute to irregular sensorimotor circuit formation. To test this hypothesis, we examined structural abnormalities in cerebral fiber tracts of dystonia patients with COL6A3 mutations using diffusion tensor imaging.

Source: Parkinsonism and Related Disorders - October 13, 2017 Category: Neurology Authors: Angela Jochim, Yong Li, Michael Zech, Daniel Lam, Nadine Gross, Kathrin Koch, Claus Zimmer, Juliane Winkelmann, Bernhard Haslinger Tags: Short communication Source Type: research