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

Autor: Tomić A; Clinic of Neurology, Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Sarasso E; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genoa, Genoa, Italy., Basaia S; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy., Dragašević-Misković N; Clinic of Neurology, Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Svetel M; Clinic of Neurology, Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Kostić VS; Clinic of Neurology, Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Filippi M; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.; Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Neurorehabilitation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Neurophysiology Service, IRCCS San Raffaele Scientific Institute, Milan, Italy., Agosta F; Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy. agosta.federica@hsr.it.; Vita-Salute San Raffaele University, Milan, Italy. agosta.federica@hsr.it.; Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy. agosta.federica@hsr.it.
Jazyk: angličtina
Zdroj: Journal of neurology [J Neurol] 2024 Apr; Vol. 271 (4), pp. 1767-1775. Date of Electronic Publication: 2023 Nov 29.
DOI: 10.1007/s00415-023-12098-y
Abstrakt: 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.
(© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.)
Databáze: MEDLINE
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