2014
DOI: 10.1371/journal.pone.0104697
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Cognitive Impairment in Myotonic Dystrophy Type 1 Is Associated with White Matter Damage

Abstract: ObjectiveTo investigate grey (GM) and white matter (WM) abnormalities and their effects on cognitive and behavioral deficits in a large, phenotypically and genotypically well-characterized cohort of classic adult (aDM1, age at onset ≥20 years) or juvenile (jDM1, age at onset <20 years) patients with myotonic dystrophy type 1 (DM1).MethodsA case-control study including 51 DM1 patients (17 jDM1 and 34 aDM1) and 34 controls was conducted at an academic medical center. Clinical, cognitive and structural MRI evalua… Show more

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Cited by 75 publications
(122 citation statements)
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“…Fatigue is also a predictor of disrupted social participation and EDS is associated with lower employment rates [29]. Fatigue in DM1 [30] may have several facets: it may have a central component, due to central pathways [31,32] or it may relate to functional disability, which is dependent on an individual's coping ability (adaptive fatigue). It may also have an emotional component due to depression, where there is a lack of association between objective and subjective fatigue.…”
Section: (Mt Rogers B Gallais B Schoser P Wijkstra D Duboc)mentioning
confidence: 99%
“…Fatigue is also a predictor of disrupted social participation and EDS is associated with lower employment rates [29]. Fatigue in DM1 [30] may have several facets: it may have a central component, due to central pathways [31,32] or it may relate to functional disability, which is dependent on an individual's coping ability (adaptive fatigue). It may also have an emotional component due to depression, where there is a lack of association between objective and subjective fatigue.…”
Section: (Mt Rogers B Gallais B Schoser P Wijkstra D Duboc)mentioning
confidence: 99%
“…Myotonic dystrophy type 1 (DM1) is an inherited multisystemic disorder that manifests itself at different ages, with variable expression of progressive skeletal muscle wasting, myotonia, dysfunction of the heart, gastrointestinal problems, insulin resistance, cataract, and alterations in cognitive functions and behavior associated with white matter loss in the central nervous system 1, 2. DM1’s autosomal-dominant character, complex symptoms, and progression are caused by expansion of a (CTG⋅CAG)n-triplet repeat located in the 3′ UTR of the DMPK gene3, 4, 5 and in a partially overlapping antisense (DM1-AS) gene 6, 7.…”
Section: Introductionmentioning
confidence: 99%
“…There are several magnetic resonance imaging (MRI) [3,4] and diffusion tensor imaging (DTI) [5,6] studies in vivo, showing diffuse brain damage among patients with DM1. Moreover, the involvement of cortical and subcortical regions among patients with DM1 is in agreement with pathological studies documenting neuronal loss and intracellular neurofibrillary tangles in the frontal and temporal lobes, thalamus, basal ganglia, and brainstem [7,8,9,10].…”
Section: Introductionmentioning
confidence: 99%