Myotonic Dystrophy as a Brain Disorder

Cognitive Impairment in Myotonic Dystrophy Type 1 Is Associated with White Matter Damage

“…In our study, DM1 patients also showed a severe involvement of the dorsolateral prefrontal cortex, cingulum, medial and lateral parietal regions, occipital and temporal lobes, that has been associated with cognitive deficits and personality changes in many neurological and psychiatric diseases. Similar symptoms, such as mild depression and anxiety as well as deficits of visuospatial abilities, executive functions, reasoning and naming, have been frequently reported in DM1 patients [6], [25], [39], [40], including those of our study.…”

Cognitive Impairment in Myotonic Dystrophy Type 1 Is Associated with White Matter Damage

“…In our study, DM1 patients also showed a severe involvement of the dorsolateral prefrontal cortex, cingulum, medial and lateral parietal regions, occipital and temporal lobes, that has been associated with cognitive deficits and personality changes in many neurological and psychiatric diseases. Similar symptoms, such as mild depression and anxiety as well as deficits of visuospatial abilities, executive functions, reasoning and naming, have been frequently reported in DM1 patients [6], [25], [39], [40], including those of our study.…”

Behavioral phenotype in childhood type of dystrophia myotonica

“…There is no evidence that these problems are the consequence of muscular impairment or impairment in the parents. This supports the view that DM is not only a muscular disorder, but also a brain disorder [Ashizawa, 1998]. The finding that the most frequent psychiatric diagnosis in these 24 subjects is ADHD supports the findings by van Spaendonck et al [1995] that in DM the subject's cognitive control of behavior, or so‐called ‘executive’ mental functions, can be markedly impaired.…”

Facial emotion recognition in myotonic dystrophy type 1 correlates with CTG repeat expansion

“…Extensive CTG repeat expansion (.1000) has been associated with more severe symptoms, earlier disease onset, and reduced IQ. 5 However, our results remained intact when we omitted the nine patients with DM-1 who had CTG repeats exceeding 1000. This indicates that impairment in facial emotion recognition ability is also found in patients affected with fewer CTG repeats, associated with classical DM-1, but our data show that these deficits become even more prominent in increasing levels of CTG repeats.…”

Cognitive Impairment in Myotonic Dystrophy Type 1 Is Associated with White Matter Damage

“…In our study, DM1 patients also showed a severe involvement of the dorsolateral prefrontal cortex, cingulum, medial and lateral parietal regions, occipital and temporal lobes, that has been associated with cognitive deficits and personality changes in many neurological and psychiatric diseases. Similar symptoms, such as mild depression and anxiety as well as deficits of visuospatial abilities, executive functions, reasoning and naming, have been frequently reported in DM1 patients [6], [25], [39], [40], including those of our study.…”

Behavioral phenotype in childhood type of dystrophia myotonica

“…There is no evidence that these problems are the consequence of muscular impairment or impairment in the parents. This supports the view that DM is not only a muscular disorder, but also a brain disorder [Ashizawa, 1998]. The finding that the most frequent psychiatric diagnosis in these 24 subjects is ADHD supports the findings by van Spaendonck et al [1995] that in DM the subject's cognitive control of behavior, or so‐called ‘executive’ mental functions, can be markedly impaired.…”

Facial emotion recognition in myotonic dystrophy type 1 correlates with CTG repeat expansion

“…Extensive CTG repeat expansion (.1000) has been associated with more severe symptoms, earlier disease onset, and reduced IQ. 5 However, our results remained intact when we omitted the nine patients with DM-1 who had CTG repeats exceeding 1000. This indicates that impairment in facial emotion recognition ability is also found in patients affected with fewer CTG repeats, associated with classical DM-1, but our data show that these deficits become even more prominent in increasing levels of CTG repeats.…”

Cognitive Impairment in Myotonic Dystrophy Type 1 Is Associated with White Matter Damage

“…In our study, DM1 patients also showed a severe involvement of the dorsolateral prefrontal cortex, cingulum, medial and lateral parietal regions, occipital and temporal lobes, that has been associated with cognitive deficits and personality changes in many neurological and psychiatric diseases. Similar symptoms, such as mild depression and anxiety as well as deficits of visuospatial abilities, executive functions, reasoning and naming, have been frequently reported in DM1 patients [6], [25], [39], [40], including those of our study.…”

Behavioral phenotype in childhood type of dystrophia myotonica

“…There is no evidence that these problems are the consequence of muscular impairment or impairment in the parents. This supports the view that DM is not only a muscular disorder, but also a brain disorder [Ashizawa, 1998]. The finding that the most frequent psychiatric diagnosis in these 24 subjects is ADHD supports the findings by van Spaendonck et al [1995] that in DM the subject's cognitive control of behavior, or so‐called ‘executive’ mental functions, can be markedly impaired.…”

Facial emotion recognition in myotonic dystrophy type 1 correlates with CTG repeat expansion

“…Extensive CTG repeat expansion (.1000) has been associated with more severe symptoms, earlier disease onset, and reduced IQ. 5 However, our results remained intact when we omitted the nine patients with DM-1 who had CTG repeats exceeding 1000. This indicates that impairment in facial emotion recognition ability is also found in patients affected with fewer CTG repeats, associated with classical DM-1, but our data show that these deficits become even more prominent in increasing levels of CTG repeats.…”