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Microstructural white matter changes in carriers of the DYT1 gene mutation

✍ Scribed by Maren Carbon; Peter B. Kingsley; Sherwin Su; Gwenn S. Smith; Phoebe Spetsieris; Susan Bressman; David Eidelberg

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 296 KB
Volume: 56
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.20177

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✦ Synopsis

Abstract

We tested the hypothesis that the DYT1 genotype is associated with a disorder of anatomical connectivity involving primarily the sensorimotor cortex. We used diffusion tensor magnetic resonance imaging (DTI) to assess the microstructure of white matter pathways in mutation carriers and control subjects. Fractional anisotropy (FA), a measure of axonal integrity and coherence, was reduced (p < 0.005) in the subgyral white matter of the sensorimotor cortex of DYT1 carriers. Abnormal anatomical connectivity of the supplementary motor area may contribute to the susceptibility of DYT1 carriers to develop clinical manifestations of dystonia. Ann Neurol 2004

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