Microstructural white matter changes in carriers of the DYT1 gene mutation.
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.
Carbon
Maren
M
Center for Neurosciences, North Shore-Long Island Jewish Research Institute, Manhasset, NY 11030, USA.
Kingsley
Peter B
PB
Su
Sherwin
S
Smith
Gwenn S
GS
Spetsieris
Phoebe
P
Bressman
Susan
S
Eidelberg
David
D
D000328:Adult; D016022:Case-Control Studies; D002540:Cerebral Cortex / Q000473:pathology* / Q000503:physiopathology; D038524:Diffusion Magnetic Resonance Imaging / Q000379:methods; D004421:Dystonia / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D009154:Mutation
D018832:Molecular Chaperones; C108175:TOR1A protein, human