Diffusion tensor imaging study in Duchenne muscular dystrophy

Fu, Ya; Dong, Yuru; Zhang, Chao; Sun, Yu; Zhang, Shu; Mu, Xuetao; Wang, Hong; Xu, Wei-Hai; Wu, Shiwen

doi:10.21037/atm.2016.03.19

Cited by 13 publications

(19 citation statements)

References 36 publications

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“…Boys may present specific learning disabilities such as dyslexia and impaired executive functions, namely problem solving, inhibition and working memory. 33 In addition, Astrea et al 37 demonstrated that 15 patients with DMD (age range = 19-44 years) demonstrated impairment in the ability to sequentially process auditory and visual information and attention. 6 A controlled study of diffusion tensor imaging (DTI) involving 15 boys with DMD showed significantly lower fractional anisotropy (FA) values in the spleni um of CC and these values were positively correlated with verbal IQ.…”

Section: Discussionmentioning

confidence: 99%

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Cognitive impairment in neuromuscular diseases: A systematic review

et al. 2018

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Neuromuscular diseases are multifactorial pathologies characterized by extensive muscle fiber damage that leads to the activation of satellite cells and to the exhaustion of their pool, with consequent impairment of neurobiological aspects, such as cognition and motor control. To review the knowledge and obtain a broad view of the cognitive impairment on Neuromuscular Diseases. Cognitive impairment in neuromuscular disease was explored; a literature search up to October 2017 was conducted, including experimental studies, case reports and reviews written in English. Keywords included Cognitive Impairment, Neuromuscular Diseases, Motor Neuron Diseases, Dystrophinopathies and Mitochondrial Disorders. Several cognitive evaluation scales, neuroimaging scans, genetic analysis and laboratory applications in neuromuscular diseases, especially when it comes to the Motor Neuron Diseases, Dystrophinopathies and Mitochondrial Disorders. In addition, organisms model using rats in the genetic analysis and laboratory applications to verify the cognitive and neuromuscular impacts. Several studies indicate that congenital molecular alterations in neuromuscular diseases promote cognitive dysfunctions. Understanding these mechanisms may in the future guide the proper management of the patient, evaluation, establishment of prognosis, choice of treatment and development of innovative interventions such as gene therapy.

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Section: Discussionmentioning

confidence: 99%

“…6 A controlled study of diffusion tensor imaging (DTI) involving 15 boys with DMD showed significantly lower fractional anisotropy (FA) values in the spleni um of CC and these values were positively correlated with verbal IQ. 37 …”

Section: Discussionmentioning

confidence: 99%

Cognitive impairment in neuromuscular diseases: A systematic review

et al. 2018

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“…139 Using DTI-ROI-based approaches and selecting 16 different structures bilaterally, Fu and colleagues found changes in the corpus callosum and, in particular, in the splenium. 113 However, both the small size of ROI used and the lack of multiple correction comparisons are the limits of the study. Lv and colleagues, assessing motor-related brain cortex, found the smaller volume in the left primary sensorimotor cortex in DMD.…”

Section: Myotonic Dystrophy Type 1: Steinert’s Diseasementioning

confidence: 99%

Advances in imaging of brain abnormalities in neuromuscular disease

Angelini

Pinzan

2019

Ther Adv Neurol Disord

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Brain atrophy, white matter abnormalities, and ventricular enlargement have been described in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive overview of the substantial advancement of brain imaging in neuromuscular diseases by consulting the main libraries ( Pubmed, Scopus and Google Scholar) including the more common forms of muscular dystrophies such as dystrophinopathies, dystroglycanopathies, myotonic dystrophies, facioscapulohumeral dystrophy, limb-girdle muscular dystrophy, congenital myotonia, and congenital myopathies. A consistent, widespread cortical and subcortical involvement of grey and white matter was found. Abnormalities in the functional connectivity in brain networks and metabolic alterations were observed with positron emission tomography (PET) and single photon emission computed tomography (SPECT). Pathological brain changes with cognitive dysfunction seemed to be frequently associated in NMDs. In particular, in congenital muscular dystrophies (CMDs), skeletal muscular weakness, severe hypotonia, WM abnormalities, ventricular dilatation and abnormalities in cerebral gyration were observed. In dystroglycanopathy 2I subtype (LGMD2I), adult patients showed subcortical atrophy and a WM periventricular involvement, moderate ventriculomegaly, and enlargement of subarachnoid spaces. Correlations with clinical features have been observed with brain imaging characteristics and alterations were prominent in congenital or childhood onset cases. In myotonic dystrophy type 2 (DM2) symptoms seem to be less severe than in type 1 (DM1). In Duchenne and Becker muscular dystrophies (DMD, BMD) cortical atrophy is associated with minimal ventricular dilatation and WM abnormalities. Late-onset glycogenosis type II (GSD II) or Pompe infantile forms are characterized by delayed myelination. Only in a few cases of oculopharyngeal muscular dystrophy (OPMD) central nervous system involvement has been described and associated with executive functions impairment.

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“…First, qualitative results of fractional anisotropy images showed a deficit of neurons in various neuroanatomic areas of the two hemispheres (Figure ). Second, quantitative measurements, where various ROIs have been placed bilaterally in various neuroanatomic areas such as parietal, frontal, occipital, temporal lobes, genu, splenium of the corpus callosum, caudate nuclei, anterior and posterior cingulate, lenticular nuclei, anterior and posterior limb of the internal capsule, hippocampus, superior and middle cerebellar peduncle and thalamus, showed similar lesions; in DTI coloured maps, their corresponding fractional anisotropy showed numerically a neuronal deficit (Figures and ) …”

Section: Mri For Heart Muscles and Brainmentioning

confidence: 96%

“…Second, quantitative measurements, where various ROIs have been placed bilaterally in various neuroanatomic areas such as parietal, frontal, occipital, temporal lobes, genu, splenium of the corpus callosum, caudate nuclei, anterior and posterior cingulate, lenticular nuclei, anterior and posterior limb of the internal capsule, hippocampus, superior and middle cerebellar peduncle and thalamus, showed similar lesions; in DTI coloured maps, their corresponding fractional anisotropy showed numerically a neuronal deficit (Figures 4 and 5). 69,70 3 | CONCLUSIONS Duchenne muscular dystrophy is a complex disease that involves not only the striated muscles, but also the heart and the brain. A holistic approach by magnetic resonance imaging/spectroscopy may lead to an individual "heart and brain imaging map", facilitate risk stratification, serial follow-up and treatment evaluation, and serve as a reliable tool for future clinical trials in DMD patients.…”

Section: Brain Magnetic Resonance Imaging/ Spectroscopy (Bmri/bmrs)mentioning

confidence: 99%

Brain and heart magnetic resonance imaging/spectroscopy in duchenne muscular dystrophy

Mavrogeni

Pons

Nikas

et al. 2017

Eur J Clin Investigation

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Duchenne muscular dystrophy (DMD) is an X-linked muscle disorder characterized by progressive and irreversible loss of muscular function. As muscular disease progresses, the repair mechanisms cannot compensate for cellular damage, leading inevitably to necrosis and progressive replacement by fibrous and fatty tissue. Cardiomyopathy and respiratory failure are the main causes of death in DMD. In addition to the well-described muscle and heart disease, cognitive dysfunction affects around 30% of DMD boys. Myocardial fibrosis, assessed by late gadolinium enhancement (LGE), using cardiovascular magnetic resonance imaging (CMR), is an early marker of heart involvement in both DMD patients and female carriers. In parallel, brain MRI identifies smaller total brain volume, smaller grey matter volume, lower white matter fractional anisotropy and higher white matter radial diffusivity in DMD patients. The in vivo brain evaluation of mdx mice, a surrogate animal model of DMD, showed an increased inorganic phosphate (P(i))/phosphocreatine (PCr) and pH. In this paper, we propose a holistic approach using techniques of magnetic resonance imaging, spectroscopy and diffusion tensor imaging as a tool to create a "heart and brain imaging map" in DMD patients that could potentially facilitate the patients' risk stratification and also future research studies in the field. K E Y W O R D Sbrain magnetic resonance imaging, brain magnetic resonance spectroscopy, cardiovascular magnetic resonance imaging, diffusion tensor imaging, duchenne muscular dystrophy

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Diffusion tensor imaging study in Duchenne muscular dystrophy

Cited by 13 publications

References 36 publications

Cognitive impairment in neuromuscular diseases: A systematic review

Cognitive impairment in neuromuscular diseases: A systematic review

Advances in imaging of brain abnormalities in neuromuscular disease

Brain and heart magnetic resonance imaging/spectroscopy in duchenne muscular dystrophy

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