Bran Connectivity & Machine Learning

White matter integrity changes and neurocognitive functioning in adult‑late onset DM1: a follow‑up DTI study

Garazi Labayru, Borja Camino, Antonio Jimenez‑Marin, JoanaGarmendia , JorgeVillanua , Miren Zulaica, Jesus M. Cortes, Adolfo López de Munain & Andone Sistiaga. Scientific Reports 12:3988, 2022  article: [pdf]

Abstract
Myotonic Dystrophy Type 1 (DM1) is a multisystemic disease that afects gray and white matter (WM) tissues. WM changes in DM1 include increased hyperintensities and altered tract integrity distributed in a widespread manner. However, the precise temporal and spatial progression of the changes are yet undetermined. MRI data were acquired from 8 adult- and late-onset DM1 patients and 10 healthy controls (HC) at two diferent timepoints over 9.06 years. Fractional anisotropy (FA) and mean difusivity (MD) variations were assessed with Tract-Based Spatial Statistics. Transversal and longitudinal intra- and intergroup analyses were conducted, along with correlation analyses with clinical and neuropsychological data. At baseline, reduced FA and increased MD values were found in patients in the uncinate, anterior-thalamic, fronto-occipital, and longitudinal tracts. At follow-up, the WM disconnection was shown to have spread from the frontal part to the rest of the tracts in the brain. Furthermore, WM lesion burden was negatively correlated with FA values, while visuo-construction and intellectual functioning were positively correlated with global and regional FA values at follow-up. DM1 patients showed a pronounced WM integrity loss over time compared to HC, with a neurodegeneration pattern that suggests a progressive anterior–posterior disconnection. The visuo-construction domain stands out as the most sensitive neuropsychological measure for WM microstructural impairment

 

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