期刊
JOURNAL OF NEUROLOGY
卷 -, 期 -, 页码 -出版社
SPRINGER HEIDELBERG
DOI: 10.1007/s00415-023-12098-y
关键词
Genetic dystonia; MRI; Cortical thickness; White matter; Grey matter volume
The study found that DYT-S patients have thinning in the frontal and motor cortical regions, putaminal atrophy, and subcortical microstructural WM damage. DYT-A patients, on the other hand, show cortical thickening in middle frontal areas and WM damage in the corona radiata.
BackgroundMost 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.MethodsEight 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.ResultsDYT-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.ConclusionsDYT 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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