A Review of Psychopathology Features, Personality, and Coping in Myotonic Dystrophy Type 1

Minier, Lisa; Lignier, Baptiste; Bouvet, Cyrille; Gallais, Benjamin; Camart, Nathalie

doi:10.3233/jnd-180310

Cited by 23 publications

(23 citation statements)

References 66 publications

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“…Adult DM patients develop various neuropsychological symptoms including excessive daytime sleepiness, cognitive decline, depression, apathy and avoidant personality (Thornton, 2014; Minier et al, 2018). Similar to DM1, the CNS symptoms in DM2 are common but less severe.…”

Section: Introductionmentioning

confidence: 99%

Deprivation of Muscleblind-Like Proteins Causes Deficits in Cortical Neuron Distribution and Morphological Changes in Dendritic Spines and Postsynaptic Densities

et al. 2019

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Myotonic dystrophy (Dystrophia Myotonica; DM) is the most common adult-onset muscular dystrophy and its brain symptoms seriously affect patients’ quality of life. It is caused by extended (CTG) n expansions at 3′-UTR of DMPK gene (DM type 1, DM1) or (CCTG) n repeats in the intron 1 of CNBP gene (DM type 2, DM2) and the sequestration of Muscleblind-like (MBNL) family proteins by transcribed (CUG) n RNA hairpin is the main pathogenic mechanism for DM. The MBNL proteins are splicing factors regulating posttranscriptional RNA during development. Previously, Mbnl knockout (KO) mouse lines showed molecular and phenotypic evidence that recapitulate DM brains, however, detailed morphological study has not yet been accomplished. In our studies, control ( Mbnl1 +/+ ; Mbnl2 cond/cond ; Nestin-Cre −/− ), Mbnl2 conditional KO (2KO, Mbnl1 +/+ ; Mbnl2 cond/cond ; Nestin-Cre +/− ) and Mbnl1/2 double KO (DKO, Mbnl1 ΔE3/ΔE3 ; Mbnl2 cond/cond ; Nestin-Cre +/− ) mice were generated by crossing three individual lines. Immunohistochemistry for evaluating density and distribution of cortical neurons; Golgi staining for depicting the dendrites/dendritic spines; and electron microscopy for analyzing postsynaptic ultrastructure were performed. We found distributional defects in cortical neurons, reduction in dendritic complexity, immature dendritic spines and alterations of postsynaptic densities (PSDs) in the mutants. In conclusion, loss of function of Mbnl1/2 caused fundamental defects affecting neuronal distribution, dendritic morphology and postsynaptic architectures that are reminiscent of predominantly immature and fetal phenotypes in DM patients.

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Section: Introductionmentioning

confidence: 99%

Deprivation of Muscleblind-Like Proteins Causes Deficits in Cortical Neuron Distribution and Morphological Changes in Dendritic Spines and Postsynaptic Densities

et al. 2019

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“…These cognitive deficits are also observed in DM1 (123). Brain insulin signaling is also linked to affective state, disturbances of which may be involved in depressive symptoms observed in DM1 (124, 125). Obsessive-compulsive disorder (OCD) personality traits are also a feature of DM1 (125).…”

Section: Clinical Evidence Of Insulin Signaling Involvement In Dm1mentioning

confidence: 99%

“…Brain insulin signaling is also linked to affective state, disturbances of which may be involved in depressive symptoms observed in DM1 (124, 125). Obsessive-compulsive disorder (OCD) personality traits are also a feature of DM1 (125). We have established that in OCD cohorts, alterations in insulin signaling occur (126), and that increased insulin resistance is associated with decreased behavioral flexibility (127).…”

Section: Clinical Evidence Of Insulin Signaling Involvement In Dm1mentioning

confidence: 99%

Insulin Signaling as a Key Moderator in Myotonic Dystrophy Type 1

et al. 2019

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Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease characterized by multi-system involvement. Affected organ system includes skeletal muscle, heart, gastro-intestinal system and the brain. In this review, we evaluate the evidence for alterations in insulin signaling and their relation to clinical DM1 features. We start by summarizing the molecular pathophysiology of DM1. Next, an overview of normal insulin signaling physiology is given, and evidence for alterations herein in DM1 is presented. Clinically, evidence for involvement of insulin signaling pathways in DM1 is based on the increased incidence of insulin resistance seen in clinical practice and recent trial evidence of beneficial effects of metformin on muscle function. Indirectly, further support may be derived from certain CNS derived symptoms characteristic of DM1, such as obsessive-compulsive behavior features, for which links with altered insulin signaling has been demonstrated in other diseases. At the basic scientific level, several pathophysiological mechanisms that operate in DM1 may compromise normal insulin signaling physiology. The evidence presented here reflects the importance of insulin signaling in relation to clinical features of DM1 and justifies further basic scientific and clinical, therapeutically oriented research.

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“…Minier et al [49] conducted a systematic literature review of psychopathological features in DM1 and reported that patients with DM1 present mild psychopathological problems, such as interpersonal difficulties, lack of interest, dysphoria, concern about bodily functioning, and hypersensibility. However, they do not present more psychiatric disorders than the general population, except for personality disorders and depression.…”

Section: Psychopathological Features and Personality Of Dm1 Patientsmentioning

confidence: 99%

Cognitive Function and Quality of Life of Muscular Dystrophy

Ueda¹

2019

Muscular Dystrophies

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Duchenne muscular dystrophy and myotonic dystrophy are genetic, progressive muscle diseases. These muscular dystrophies, which are currently incurable, cause muscle wasting or muscle weakness and decrease patients' quality of life. In addition to muscular impairments, cognitive impairments are also reported in both Duchenne muscular dystrophy and myotonic dystrophy. Cognitive impairments in each type of muscular dystrophy are different and closely related to psychosocial variables and the quality of life of the patients. We reviewed the features of cognitive functions in each type of muscular dystrophy and their correlations with the quality of life of patients. Based on the findings, we have suggested effective interventions for improving the quality of life of muscular dystrophy patients.

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A Review of Psychopathology Features, Personality, and Coping in Myotonic Dystrophy Type 1

Cited by 23 publications

References 66 publications

Deprivation of Muscleblind-Like Proteins Causes Deficits in Cortical Neuron Distribution and Morphological Changes in Dendritic Spines and Postsynaptic Densities

Deprivation of Muscleblind-Like Proteins Causes Deficits in Cortical Neuron Distribution and Morphological Changes in Dendritic Spines and Postsynaptic Densities

Insulin Signaling as a Key Moderator in Myotonic Dystrophy Type 1

Cognitive Function and Quality of Life of Muscular Dystrophy

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