Cerebral Abnormalities in Myotonic Dystrophy

Chang, Linda; Anderson, Thomas; Migneco, Octave; Boone, Kyle Brauer; Mehringer, C M; Villanueva‐Meyer, Javier; Berman, Nancy; Mena, Ismaël

doi:10.1001/archneur.1993.00540090024006

Cited by 78 publications

(17 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Wilson et al'2 have suggested cut off points to help categorise memory disorders. Using these criteria one DM subject scored in the severely impaired range, one subject scored in the moderately impaired category (<7), and 15 subjects (out of 36 subjects tested) scored in the poor memory category (7)(8)(9). These data imply that memory impairment in milder DM cases is disproportionate to IQ score.…”

Section: Discussionmentioning

confidence: 99%

Mild myotonic dystrophy is associated with memory impairment in the context of normal general intelligence.

Rubinsztein

McKenna

et al. 1997

Journal of Medical Genetics

View full text Add to dashboard Cite

Previous investigations of cognitive function in myotonic dystrophy (DM) suggested that DM subjects have impairment of general intelligence and severe defects in executive function. These studies had to neglect patients with mild clinical disease, since they were generally performed before the availability of DNA testing for DM. We have investigated a group of milder DM cases (defined both by their degree of disability and CTG expansion size) and have not found any defect in general intelligence using the National Adult Reading Test, Standard Progressive Matrices, and Mini-Mental State examination. Three executive function tests were used. The cognitive estimates test and the Wisconsin Card Sorting Test showed tendencies towards impairment, which were of borderline significance, but the verbal fluency task was performed normally. However, in the face of normal general intelligence, mild DM subjects as a group show impairment of memory function. This suggests that memory function may be more sensitive to small CTG repeat expansions than general intelligence.

show abstract

Section: Discussionmentioning

confidence: 99%

Mild myotonic dystrophy is associated with memory impairment in the context of normal general intelligence.

Rubinsztein

McKenna

et al. 1997

Journal of Medical Genetics

View full text Add to dashboard Cite

show abstract

“…Several neuropsychological studies have shown reduced intelligence quotient (IQ) scores and concurrent deficits in executive function and visuospatial construction ability 35. In association with the cognitive deficits observed in DM1, structural and functional abnormalities of the brain have been reported, which include white matter lesions and atrophy,6 decreased cerebral glucose metabolism,7 hypoperfusion in the fronto-temporo-parietal cortex,5 and reduced cerebral blood flow 35. Voxel based morphometry has revealed gray matter atrophy in the bilateral frontal, parietal lobes, and in the temporo-occipital gyrus, while diffusion tensor imaging (DTI) has highlighted regional white matter atrophy in the corpus callosum 89…”

Section: Introductionmentioning

confidence: 99%

Cortical Thickness and White Matter Integrity are Associated with CTG Expansion Size in Myotonic Dystrophy Type I

et al. 2017

View full text Add to dashboard Cite

PurposeMyotonic dystrophy type 1 (DM1) is characterized by progressive muscular weakness with symptoms caused by involvement of the brain. The aim of this study was to delineate global changes in cortical thickness and white matter integrity in patients with DM1, compared to age-matched healthy controls, and in brain areas highly correlated with CTG repeat size.Materials and MethodsCortical thickness and white matter integrity were compared in nine adult DM1 patients and age matched healthy controls using T1-weighted and diffusion tensor imaging. The patients' intelligence quotient (IQ) and CTG repeat size were measured in each individual.ResultsCortical thickness was significantly reduced in the frontal, temporal, and occipital cortices, while tract-based spatial statistics showed decreased diffusion metrics in widespread areas, including the bilateral orbitofrontal, anterior frontal, insular, external capsule, and occipital cortices in DM1 patients, compared to controls. Additionally, thickness was negatively correlated with the number of CTG repeats in those areas. White matter integrity was negatively correlated with CTG repeats in the left entorhinal, anterior corona radiata, orbitofrontal, and lateral occipital areas. No statistically significant correlation was found between IQ scores and the size of CTG repeats.ConclusionOur results suggest that DM1 is associated with wide distributions of network changes in both gray and white matter. Some of areas related to cognition showed significant correlations with CTG repeats.

show abstract

“…Neuropathological [4, 5], magnetic resonance imaging (MRI) [6], single-photon emission computed tomography [7], positron emission tomography [8], proton MR spectroscopy [9], MR relaxometry [10]and neurophysiological [11]studies have demonstrated several brain abnormalities in patients with DM. However, many issues, such as the parts of the brain primarily involved in the disease and the fundamental differences between the likely developmental abnormalities in congenital DM and the apparently degenerative changes in adult-type DM, remain to be investigated [12].…”

Section: Introductionmentioning

confidence: 99%

“…Chang et al [7]and Meola et al [13]reported normal MRI or nonspecific white matter abnormalities in 17 and 15 DM patients, respectively, while Abe et al [4]reported WMLs in 14 patients consecutively examined. Glantz et al [14]found periventricular WMLs in 43% of patients, while Bachmann et al [15]found mainly subcortical WMLs.…”

Section: Introductionmentioning

confidence: 99%

“…Glantz et al [14]found periventricular WMLs in 43% of patients, while Bachmann et al [15]found mainly subcortical WMLs. Some authors [6, 16]described characteristic anterior temporal WMLs, which were considered a volume averaging effect with the surrounding subarachnoid spaces by others [7]. Bachmann et al [15]reported a high frequency of dilated Virchow-Robin spaces (VRSs) in patients with DM but did not evaluate their location, extent and strength of association with the disease.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Dilated Virchow-Robin Spaces in Myotonic Dystrophy: Frequency, Extent and Significance

Costanzo

Salle²,

Santoro³

et al. 2001

Eur Neurol

View full text Add to dashboard Cite

To study the frequency, extent and significance of dilated Virchow-Robin spaces (VRSs) in dystrophia myotonica (DM), we evaluated the cranial magnetic resonance imaging (MRI) of 41 patients with the adult form of DM and 41 healthy controls. Dilated VRSs and white matter lesions (WMLs) were rated according to semiquantitative methods. Convexity VRSs were more frequent (68 vs. 34%; p < 0.01) and severer (median scores: 4 vs. 0; p < 0.01) in DM patients than in controls, while lenticulostriate VRSs did not show significant differences in frequency (83 vs. 70%; p > 0.05) and severity (median scores: 4 vs. 3; p > 0.05). WMLs were more frequent (66 vs. 22%; p < 0.01) and severer (median scores: 5 vs. 0; p < 0.01) in patients. Disease duration was negatively correlated with convexity VRSs and positively with lobar (centrum semiovale) WML scores. Dilated convexity VRSs might be one of the initial findings in cranial MRI of DM, preceding the appearance of lobar WMLs.

show abstract

Cerebral Abnormalities in Myotonic Dystrophy

Cited by 78 publications

References 25 publications

Mild myotonic dystrophy is associated with memory impairment in the context of normal general intelligence.

Mild myotonic dystrophy is associated with memory impairment in the context of normal general intelligence.

Cortical Thickness and White Matter Integrity are Associated with CTG Expansion Size in Myotonic Dystrophy Type I

Dilated Virchow-Robin Spaces in Myotonic Dystrophy: Frequency, Extent and Significance

Contact Info

Product

Resources

About