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Are there two different forms of functional dystonia? A multimodal brain structural MRI study
Aleksandra Tomic1,2, Federica Agosta1, Elisabetta Sarasso1
1Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy.
Functional dystonia (FD) presents in two forms: fixed (FixFD) and mobile (MobFD). MobFD shows gray matter changes, while FixFD exhibits widespread white matter disconnection, impacting sensorimotor and emotional circuits.
Area of Science:
- Neuroscience
- Neurology
- Radiology
Background:
- Functional dystonia (FD) is a movement disorder with distinct clinical presentations.
- Two phenotypes, typical fixed dystonia (FixFD) and the recently described mobile dystonia (MobFD), require differentiated investigation.
- Understanding the neural underpinnings of these FD variants is crucial for targeted interventions.
Purpose of the Study:
- To investigate and compare brain structural alterations in FixFD and MobFD using magnetic resonance imaging (MRI).
- To elucidate the neuroanatomical differences between the two FD phenotypes and healthy controls.
Main Methods:
- Recruited 44 FD patients (13 FixFD, 31 MobFD) and 43 healthy controls.
- Utilized 3D T1-weighted and diffusion tensor (DT) MRI for comprehensive brain analysis.
- Assessed cortical thickness, gray matter (GM) volumes, and white matter (WM) tract integrity.
Main Results:
- Both FD groups showed normal cortical thickness compared to controls.
- MobFD patients exhibited cortical thinning in orbitofrontal, parietal, and cingulate regions, along with reduced GM volumes in subcortical structures (nucleus accumbens, putamen, thalamus, caudate).
- FixFD patients displayed severe WM disconnection in the corpus callosum, corticospinal tract, and thalamic radiations, affecting sensorimotor and emotional circuits.
Conclusions:
- Distinct MRI patterns differentiate MobFD and FixFD.
- MobFD is associated with GM alterations in regions critical for sensorimotor, emotional, and cognitive control.
- FixFD is characterized by global WM disconnection, suggesting widespread network dysfunction.
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