Regional brain atrophy in gray and white matter is associated with cognitive impairment in Myotonic Dystrophy type 1

Abstract

HighlightsPredominance of white matter impairment in DM1 is questioned.Age poses vulnerability to grey matter loss in specific areas in DM1.White matter alterations in DM1 may be developmental.Muscular and genetic features are associated with brain abnormalities in DM1.Neuropsychology is an unspecific but strong predictor of gray matter damage in DM1.

Neurodegeneration trajectory in pediatric and adult/late DM1: A follow‐up MRI study across a decade

“…Performance on the ROCF has previously been shown to correlate with brain atrophy measures and WM microstructural damage. 27,40,48 Regionally, data obtained from a previous study in our laboratory 49 are compatible with the results of this study in the sense that neuropsychological tools appear to be sensitive but still unspecific measures of brain regional correlates. Considering the lack of topological specificity, a network-wise organization hypothesis must be considered.…”

Cognitive Decline and White Matter Integrity Degradation in Myotonic Dystrophy Type I

“…We observed that the most deteriorated WM region was the cortical‐spinal tract in the brainstem region, which is related to sensory‐motor functions altered in DM1 patients 23 . Regarding the cognitive domains, it has been hypothesized that this widespread WM degeneration may be associated with the cognitive impairment in different processes for DM1 patients, 3,9,28 as describe in the next section.…”

“…According to previous studies, DM1 patients have more severe and more diverse symptoms and earlier age onset with larger CTG repetitions, 9 and a correlation between the damage to the integrity of the cerebral WM with the expansion of the number of mutated alleles; 27 however, it has also been shown that the count of the number of repetitions varies from different tissues and over time with respect to the symptomatology of the DM1 (0 to 3000 repetitions), which has put in doubt the reliability in the count of the repetitions obtained of blood samples from the peripheral circulation of patients 30 . This can lead to confusing and contradictory results on the correlation between the different variables evaluated, such as the deterioration of the integrity of the WM, muscle strength data, and neuropsychological data with the number of CTG repetitions.…”

“…F test uses the Snedcor's F ‐distribution to compare multiple regression models simultaneously 20 . The regressors were standardized and controlled by the number of CTG repetitions and by the age of onset of the disease of the patients 9 …”

“…However, a clear pattern of degeneration of WM and its possible relation with specific cognitive alterations in DM1, it is still not clear 8 . For example, changes in the IQ index and visuoconstructive and executive functional scales are found to correlate with brain atrophy distributed at the parietal and subcortical levels 9 . However, there is still a dearth of information related to the neural basis of the cognitive detriment of DM1 patients, for example, the few reports on the cognitive changes in these patients are diverse and even contradictory in certain cases 5 …”