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29-11-2023 | Dystonia | Original Communication

Structural brain heterogeneity underlying symptomatic and asymptomatic genetic dystonia: a multimodal MRI study

Authors: Aleksandra Tomić, Elisabetta Sarasso, Silvia Basaia, Nataša Dragašević-Misković, Marina Svetel, Vladimir S. Kostić, Massimo Filippi, Federica Agosta

Published in: Journal of Neurology | Issue 4/2024

Abstract

Background

Most of DYT genotypes follow an autosomal dominant inheritance pattern with reduced penetrance; the mechanisms underlying the disease development remain unclear. The objective of the study was to investigate cortical thickness, grey matter (GM) volumes and white matter (WM) alterations in asymptomatic (DYT-A) and symptomatic dystonia (DYT-S) mutation carriers.

Methods

Eight DYT-A (four DYT-TOR1A and four DYT-THAP1), 14 DYT-S (seven DYT-TOR1A, and seven DYT-THAP1), and 37 matched healthy controls underwent 3D T1-weighted and diffusion tensor (DT) MRI to study cortical thickness, cerebellar and basal ganglia GM volumes and WM microstructural changes.

Results

DYT-S showed thinning of the frontal and motor cortical regions related to sensorimotor and cognitive processing, together with putaminal atrophy and subcortical microstructural WM damage of both motor and extra-motor tracts such as cerebral peduncle, corona radiata, internal and external capsule, temporal and orbitofrontal WM, and corpus callosum. DYT-A had cortical thickening of middle frontal areas and WM damage of the corona radiata.

Conclusions

DYT genes phenotypic expression is associated with alterations of both motor and extra-motor WM and GM regions. Asymptomatic genetic status is characterized by a very subtle affection of the WM motor pathway, together with an increased cortical thickness of higher-order frontal regions that might interfere with phenotypic presentation and disease manifestation.

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Title: Structural brain heterogeneity underlying symptomatic and asymptomatic genetic dystonia: a multimodal MRI study
Authors: Aleksandra Tomić
Elisabetta Sarasso
Silvia Basaia
Nataša Dragašević-Misković
Marina Svetel
Vladimir S. Kostić
Massimo Filippi
Federica Agosta
Publication date: 29-11-2023
Publisher: Springer Berlin Heidelberg
Keyword: Dystonia
Published in: Journal of Neurology / Issue 4/2024
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-023-12098-y

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Springer Medicine

Structural brain heterogeneity underlying symptomatic and asymptomatic genetic dystonia: a multimodal MRI study

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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