Characterization of Iron Accumulation in Deep Gray Matter in Myotonic Dystrophy Type 1 and 2 Using Quantitative Susceptibility Mapping and R2* Relaxometry: A Magnetic Resonance Imaging Study at 3 Tesla

Ates, S; Deistung, Andreas; Schneider, Ruth; Prehn, Christian; Lukas, Carsten; Reichenbach, Jürgen R.; Schneider‐Gold, Christiane; Bellenberg, Barbara

doi:10.3389/fneur.2019.01320

Cited by 12 publications

(10 citation statements)

References 75 publications

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“…Finally, daytime sleepiness or hypersomnolence is a core feature of DM1 brain pathology with the current findings showing strong relationships to low FA. Previous studies have also shown significant relationships between brain pathology and neuroimaging findings with sleep problems, including ventricular enlargement, gray and white matter atrophy, white matter lesions, decreased volume of the pallidum and diencephalon, hypoechogenic raphe, iron accumulation in the caudate nucleus, and decreased neurofibrillary tangles (6,22,26,76,77). Moreover, white matter tract mean diffusivity in the superior longitudinal fasciculus and cingulum has been associated with an increased score on the Epworth Sleepiness Scale (4).…”

Section: Discussionmentioning

confidence: 98%

“…The majority of studies evaluating depression in DM1 have utilized rating scales such as the Beck Depression Inventory (BDI) (6,9,10,14,16,(22)(23)(24)(25)(26)(27)(28), the Hamilton Rating Scale for Depression (HAM-D) (29)(30)(31)(32)(33)(34) or a variety of other standardized, self-rating scales (35)(36)(37)(38)(39)(40)(41)(42)(43)(44)(45)(46)(47)(48), and comparison groups were often adults with no major medical illnesses. However, rating scales such as the BDI-II not only assess mood and cognitive symptoms such as sadness, suicidality, and guilt, but also somatic symptoms such as fatigue and sleep disturbance.…”

Section: Introductionmentioning

confidence: 99%

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Cognitive Deficits, Apathy, and Hypersomnolence Represent the Core Brain Symptoms of Adult-Onset Myotonic Dystrophy Type 1

et al. 2021

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Myotonic dystrophy type 1 is the most common form of muscular dystrophy in adults, and is primarily characterized by muscle weakness and myotonia, yet some of the most disabling symptoms of the disease are cognitive and behavioral. Here we evaluated several of these non-motor symptoms from a cross-sectional time-point in one of the largest longitudinal studies to date, including full-scale intelligence quotient, depression, anxiety, apathy, sleep, and cerebral white matter fractional anisotropy in a group of 39 adult-onset myotonic dystrophy type 1 participants (27 female) compared to 79 unaffected control participants (46 female). We show that intelligence quotient was significantly associated with depression (P < 0.0001) and anxiety (P = 0.018), but not apathy (P < 0.058) or hypersomnolence (P = 0.266) in the DM1 group. When controlling for intelligence quotient, cerebral white matter fractional anisotropy was significantly associated with apathy (P = 0.042) and hypersomnolence (P = 0.034), but not depression (P = 0.679) or anxiety (P = 0.731) in the myotonic dystrophy type 1 group. Finally, we found that disease duration was significantly associated with apathy (P < 0.0001), hypersomnolence (P < 0.001), IQ (P = 0.038), and cerebral white matter fractional anisotropy (P < 0.001), but not depression (P = 0.271) or anxiety (P = 0.508). Our results support the hypothesis that cognitive deficits, hypersomnolence, and apathy, are due to the underlying neuropathology of myotonic dystrophy type 1, as measured by cerebral white matter fractional anisotropy and disease duration. Whereas elevated symptoms of depression and anxiety in myotonic dystrophy type 1 are secondary to the physical symptoms and the emotional stress of coping with a chronic and debilitating disease. Results from this work contribute to a better understanding of disease neuropathology and represent important therapeutic targets for clinical trials.

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Section: Discussionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

Cognitive Deficits, Apathy, and Hypersomnolence Represent the Core Brain Symptoms of Adult-Onset Myotonic Dystrophy Type 1

et al. 2021

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“…Concerning the neuropsychological disorders, depression in particular, is associated with lesions and atrophy in fronto-temporal and frontal lobes separately [ 20 ]. Our study similarly confirmed that appearance of depression was connected to the lesions of parietal lobe, corpus callosum, simultaneous of frontal lobe and corpus callosum (in group A) and combined lesions of frontal lobe and corpus callosum, fronto-temporal region (in group B), although brain atrophy was associated with depression only in the group of study subjects younger than 40.…”

Section: Discussionmentioning

confidence: 99%

Cognitive impairment and depression in patients with relapsing–remitting multiple sclerosis depending on age and neuroimaging findings

Kopchak

Odintsova

2021

Egypt J Neurol Psychiatry Neurosurg

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Background Multiple sclerosis is an insidious, disabling, both physically and mentally, demyelinating disease of the central nervous system. This work aims to evaluate relationships between cognitive impairment in separate domains, depression and their correspondence with MRI-findings, as well as the influence on each other’s manifestations, in patients with relapsing–remitting multiple sclerosis. Results Visual–spatial/executive functions and memory domains suffered more frequently than others in the study subjects under 40 years; in patients over 40 years old memory, visual–spatial/executive functions and abstract thinking impairment prevailed the most. Such cognitive domains as memory, language, abstract thinking, visual–spatial and executive functions were impacted in both groups of patients even without the apparent cognitive decline according to MoCA scale. Presence of depression impacted language and attention more prominently than the rest of the domains only in participants younger 40 years. According to the MRI, frontal lobe, corpus callosum and periventricular area were affected more often compared to other brain regions in case of cognitive impairment; meanwhile, combined lesions of frontal lobe and corpus callosum, fronto-temporal region were associated with depression. Conclusion Cognitive impairment and depression are one of the common, yet disabling and socially disrupting manifestations of MS. Quite frequently such complaints are neglected or considered as parts of comorbidities. At the same time cognitive impairment can be amplified by depression, especially in patients under 40 years.

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“…At brain MRI, Diffusion Tensor Imaging (DTI) and Voxel Based Morphometry (VBM) techniques show corticospinal tract involvement, as shown by Park et al ( 55 ) who described a significant correlation between gray matter volume loss in the sensorimotor cortex and white matter micro integrity alteration of corticospinal tract (valued with DTI parameters) and motor parameters such as muscle strength (valued by Medical Research Council scale), 6 min walking test (6MWT) and handgrip, suggesting a role of corticospinal alteration in motor performance in DM1. Also, deep gray matter alterations (caudate, pallidum, hippocampus, subthalamic nucleus, thalamus, and substantia nigra) has been described, with significant relationship with motor function, sleepiness and cognitive functions, particularly attention and executive function ( 56 ). CNS involvement also plays a role in sleep disturbance, with prominent REM sleep dysregulation and a narcoleptic-like phenotype in DM1 ( 57 ).…”

Section: Clinical Features Of Cns Involvementmentioning

confidence: 99%

“…Higher Muscular Impairment Rating Scale (MIRS) was associated with lower FA, and patients harboring higher CTG triplets showed a decrease of FA in the fibers, starting in bilateral prefrontal areas, anterior cingulate and temporal cortex insula and putamen ( 61 , 63 ). Ates et al in 2019 with three Tesla MRI studied iron accumulation in deep gray matter nuclei and they found widespread iron accumulation in caudate, pallidum, hippocampus, subthalamic nucleus, thalamus, and substantia nigra; interestingly these alterations were significantly associated with DM1 common symptoms as muscular weakness, daytime sleepiness, and specific cognitive deficit ( 56 ).…”

Section: Clinical Features Of Cns Involvementmentioning

confidence: 99%

Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1

et al. 2020

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Increasing evidences indicate that in Myotonic Dystrophy type 1 (DM1 or Steinert disease), an autosomal dominant multisystem disorder caused by a (CTG)n expansion in DMPK gene on chromosome 19q13. 3, is the most common form of inherited muscular dystrophy in adult patients with a global prevalence of 1/8000, and involvement of the central nervous system can be included within the core clinical manifestations of the disease. Variable in its severity and progression rate over time, likely due to the underlying causative molecular mechanisms; this component of the clinical picture presents with high heterogeneity involving cognitive and behavioral alterations, but also sensory-motor neural integration, and in any case, significantly contributing to the disease burden projected to either specific functional neuropsychological domains or quality of life as a whole. Principle manifestations include alterations of the frontal lobe function, which is more prominent in patients with an early onset, such as in congenital and childhood onset forms, here associated with severe intellectual disabilities, speech and language delay and reduced IQ-values, while in adult onset DM1 cognitive and neuropsychological findings are usually not so severe. Different methods to assess central nervous system involvement in DM1 have then recently been developed, these ranging from more classical psychometric and cognitive functional instruments to sophisticated psycophysic, neurophysiologic and especially computerized neuroimaging techniques, in order to better characterize this disease component, at the same time underlining the opportunity to consider it a suitable marker on which measuring putative effectiveness of therapeutic interventions. This is the reason why, as outlined in the conclusive section of this review, the Authors are lead to wonder, perhaps in a provocative and even paradoxical way to arise the question, whether or not the myologist, by now the popular figure in charge to care of a patient with the DM1, needs to remain himself a neurologist to better appreciate, evaluate and speculate on this important aspect of Steinert disease.

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Characterization of Iron Accumulation in Deep Gray Matter in Myotonic Dystrophy Type 1 and 2 Using Quantitative Susceptibility Mapping and R2* Relaxometry: A Magnetic Resonance Imaging Study at 3 Tesla

Cited by 12 publications

References 75 publications

Cognitive Deficits, Apathy, and Hypersomnolence Represent the Core Brain Symptoms of Adult-Onset Myotonic Dystrophy Type 1

Cognitive Deficits, Apathy, and Hypersomnolence Represent the Core Brain Symptoms of Adult-Onset Myotonic Dystrophy Type 1

Cognitive impairment and depression in patients with relapsing–remitting multiple sclerosis depending on age and neuroimaging findings

Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1

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