Microstructural white matter changes in carriers of the DYT1 gene mutation

Maren Carbon, Peter B. Kingsley, Sherwin Su, Gwenn S. Smith, Phoebe Spetsieris, Susan Bressman, David Eidelberg

Research output: Contribution to journalArticlepeer-review

98 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)283-286
Number of pages4
JournalAnnals of neurology
Issue number2
StatePublished - Aug 2004
Externally publishedYes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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