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Microstructural white matter changes in carriers of the DYT1 gene mutation
Author(s) -
Carbon Maren,
Kingsley Peter B.,
Su Sherwin,
Smith Gwenn S.,
Spetsieris Phoebe,
Bressman Susan,
Eidelberg David
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20177
Subject(s) - white matter , fractional anisotropy , diffusion mri , neuroscience , magnetic resonance imaging , motor cortex , cortex (anatomy) , dystonia , mutation , psychology , medicine , biology , genetics , gene , radiology , stimulation
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