4.6 Article

Thalamocortical Connectivity Correlates with Phenotypic Variability in Dystonia

Journal

CEREBRAL CORTEX
Volume 25, Issue 9, Pages 3086-3094

Publisher

OXFORD UNIV PRESS INC
DOI: 10.1093/cercor/bhu104

Keywords

diffusion tensor imaging (DTI); dystonia; motor system; tractography

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Funding

  1. National Institute of Neurological Disorders and Stroke [R01 NS072514]
  2. Grants-in-Aid for Scientific Research [15K19487] Funding Source: KAKEN

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Dystonia is a brain disorder characterized by abnormal involuntary movements without defining neuropathological changes. The disease is often inherited as an autosomal-dominant trait with incomplete penetrance. Individuals with dystonia, whether inherited or sporadic, exhibit striking phenotypic variability, with marked differences in the somatic distribution and severity of clinical manifestations. In the current study, we used magnetic resonance diffusion tensor imaging to identify microstructural changes associated with specific limb manifestations. Functional MRI was used to localize specific limb regions within the somatosensory cortex. Microstructural integrity was preserved when assessed in subrolandic white matter regions somatotopically related to the clinically involved limbs, but was reduced in regions linked to clinically uninvolved (asymptomatic) body areas. Clinical manifestations were greatest in subjects with relatively intact microstructure in somatotopically relevant white matter regions. Tractography revealed significant phenotype-related differences in the visualized thalamocortical tracts while corticostriatal and corticospinal pathways did not differ between groups. Cerebellothalamic microstructural abnormalities were also seen in the dystonia subjects, but these changes were associated with genotype, rather than with phenotypic variation. The findings suggest that the thalamocortical motor system is a major determinant of dystonia phenotype. This pathway may represent a novel therapeutic target for individuals with refractory limb dystonia.

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