The Functional Neuroanatomy of Dystonia

Dystonia is a brain disorder characterized by sustained involuntary muscle contractions. It is typically inherited as an autosomal dominant trait with incomplete penetrance. While lacking clear degenerative neuropathology, primary dystonia is thought to involve microstructural and functional changes in neuronal circuitry. In the current study, we used magnetic resonance diffusion tensor imaging and probabilistic tractography to identify the specific circuit abnormalities that underlie clinical penetrance in carriers of genetic mutations for this disorder. This approach revealed reduced integrity of cerebellothalamocortical fiber tracts, likely developmental in origin, in both manifesting and clinically nonmanifesting dystonia mutation carriers. In these subjects, reductions in cerebellothalamic connectivity correlated with increased motor activation responses, consistent with loss of inhibition at the cortical level. Nonmanifesting mutation carriers were distinguished by an additional area of fiber tract disruption situated distally along the thalamocortical segment of the pathway, in tandem with the proximal cerebellar outflow abnormality. In individual gene carriers, clinical penetrance was determined by the difference in connectivity measured at these two sites. Overall, these findings point to a novel mechanism to explain differences in clinical expression in carriers of genes for brain disease.

https://www.jneurosci.org/content/jneuro/29/31/9740.full.pdf

Cerebellothalamocortical connectivity regulates penetrance in dystonia.

Purpose of reviewIn contrast to traditional anatomical and pathological methods, magnetic resonance morphometry of the brain allows the in-vivo study of temporal changes in brain morphology and the correlation of brain morphology with brain function. Magnetic resonance morphometry has thereby recent

/pdf/magnetic-resonance-based-morphometry-a-window-into-vfe86efhzn.pdf

Magnetic resonance-based morphometry: a window into structural plasticity of the brain.

To determine whether reduced striatal D2 receptor binding reported in patients with idiopathic torsion dystonia is associated with the genotype, the authors used PET and [11C]-raclopride to assess non-manifesting carriers of the DYT1 mutation. D2 receptor binding was reduced by approximately 15% in caudate and putamen (p < 0.005). These results suggest that striatal D2 binding reductions are a trait feature of the DYT1 genotype.

Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation

Dystonia and the cerebellum: A new field of interest in movement disorders?

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.

https://jim.bmj.com/content/jim/52/Suppl_2/S348.1.full.pdf

12 microstructural white matter changes in carriers of the dyt1 gene mutation.

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12 microstructural white matter changes in carriers of the dyt1 gene mutation.