scholarly journals Advances in imaging of brain abnormalities in neuromuscular disease

2019 ◽  
Vol 12 ◽  
pp. 175628641984556 ◽  
Author(s):  
Corrado Angelini ◽  
Elena Pinzan
Keyword(s):  
White Matter ◽  
Muscular Dystrophy ◽  
Brain Imaging ◽  
Photon Emission ◽  
Neuromuscular Diseases ◽  
Central Nervous System Involvement ◽  
Ventricular Dilatation ◽  
Cortical Atrophy ◽  
Muscular Dystrophies ◽  
Emission Computed Tomography

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.

scholarly journals Posterior cortical atrophy: A rare variant of Alzheimer’s disease

2018 ◽  
Vol 10 (2) ◽  
Author(s):  
Michael A. Meyer ◽  
Stephen A. Hudock
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Visual Cortex ◽  
Primary Visual Cortex ◽  
Photon Emission ◽  
Occipital Cortex ◽  
Cortical Atrophy ◽  
Emission Computed Tomography ◽  
Posterior Cortical Atrophy ◽  
Homonymous Hemianopsia

Posterior cortical atrophy is a rare condition first described in 1988 involving progressive degeneration and atrophy of the occipital cortex, often recognized after an unexplained homonymous hemianopsia may be discovered. We report a case in association with Alzheimer’s disease in a 77-year-old female, who underwent brain single-photon emission computed tomography as well brain positron emission tomography using Florbetapir to further evaluate progressive cognitive decline. The patient had also been followed in Ophthalmology for glaucoma, where a progressive unexplained change in her visual field maps were noted over one year consistent with a progressive right homonymous hemianopsia. This rare combination of findings in association with her dementia led to a detailed review of all her imaging studies, concluding with the surprising recognition for a clear hemi-atrophy of the primary left occipital cortex was occurring, consistent with Alzheimer’s disease affecting the primary visual cortex. Further awareness of this disease pattern is needed, as Alzheimer’s disease typically does not affect the primary visual cortex; other conditions to consider in general include Lewy Body dementia, cortico-basal degeneration and prion disease.

Differential diagnosis of Duchenne muscular dystrophy

2021 ◽  
Vol 2 (3) ◽  
pp. 159-166
Author(s):  
Alexey L. Kurenkov ◽  
Lyudmila M. Kuzenkova ◽  
Lale A. Pak ◽  
Bella I. Bursagova ◽  
Tatyana V. Podkletnova ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Damage ◽  
Genetic Diagnosis ◽  
Clinical Manifestations ◽  
Neuromuscular Diseases ◽  
Muscular Dystrophies ◽  
Juvenile Form ◽  
Pathogenic Variants

Duchenne muscular dystrophy (DMD) is a disease with an X-linked recessive type of inheritance, belonging to a group of disorders with primary muscle damage, caused by pathogenic variants in the DMD gene and associated with dysfunction of the dystrophin protein. Since DMD is manifested by the gradual development of progressive, mainly proximal muscle weakness, the differential diagnosis is primarily carried out in the group of diseases with muscle damage - myopathies. Among these diseases, the leading candidates for differential diagnosis are hereditary myopathies (limb-girdle muscular dystrophies, facioscapulohumeral dystrophy, congenital muscular dystrophies, glycogenoses - the most common juvenile form of glycogenosis type II (Pompe disease)) and, much less often, congenital myopathies and other conditions of neuromuscular diseases). When conducting a differential diagnosis in a child with suspected DMD, the age of the onset of the disease, early initial clinical manifestations and the development of symptoms as they grow, genealogical analysis, laboratory tests (the level of creatine kinase, aspartate aminotransferase, alanine aminotransferase in blood serum), instrumental (electromyography, magnetic resonance imaging of the brain and muscles) and molecular genetics (polymerase chain reaction, multiplex ligation-dependent probe amplification, next-generation sequencing, Sanger sequencing, etc.) of studies, and in some cases, muscle biopsy data. Knowledge of the nuances of the differential diagnosis allows establishing a genetic diagnosis of DMD as early as possible, which is extremely important for the formation of the prognosis of the disease and the implementation of all available treatment methods, including pathogenetic therapy, and is also necessary for medical and genetic counselling of families with DMD patients.

Discrepancy Between the Degree of Cognitive Impairment and Brain Imaging Abnormalities in Alzheimer’s Disease Patients Is Associated with Cognitive Reserve

2021 ◽  
pp. 1-9
Author(s):  
Tomohiko Sato ◽  
Haruo Hanyu ◽  
Yumi Koyama ◽  
Haruka Horita ◽  
Toshinori Aoki ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cognitive Impairment ◽  
Brain Imaging ◽  
Cognitive Reserve ◽  
Photon Emission ◽  
Clinical Manifestations ◽  
Leisure Activity ◽  
Emission Computed Tomography ◽  
Imaging Findings

Background: In Alzheimer’s disease (AD) patients, the severity of cognitive impairment is thought to correlate with the degree of brain imaging abnormalities. However, some patients show only mild cognitive deficit, despite severe brain atrophy on magnetic resonance imaging (MRI) or marked hypoperfusion in the cerebral cortices on single-photon emission computed tomography (SPECT). This suggests that cognitive reserve (CR) can compensate for the clinical manifestations of AD in patients with extensive brain pathology. Objective: We aimed to determine whether this discrepancy between cognitive and imaging findings is associated with CR. Methods: Factors associated with the discrepancy between the degree of cognitive impairment and MRI (medial temporal lobe atrophy) and SPECT (posterior cerebral hypoperfusion) findings were analyzed in 135 patients with probable AD. Factors as proxies for CR included education, occupation, leisure activity, comorbidities, frailty, and other demographics. The discrepancy index (DI) was calculated as the difference between the degree of imaging abnormalities and the degree of cognitive dysfunction. Results: Multiple regression analysis showed that leisure activity and education were significantly associated with the discrepancy between cognitive and imaging findings. When the level of CR was determined based on leisure activity and education, the high-CR group showed a significantly larger DI than the moderate- and low-CR groups. Conclusion: The discrepancy between cognitive and imaging findings in patients with AD is associated with CR, measured using a combination of two indicators, i.e., leisure activity and education. Therefore, lifestyle interventions may delay the appearance of clinical symptoms resulting from underlying AD pathology, by increasing CR.

scholarly journals Relative Function: Nuclear Brain Imaging in United States Courts

2011 ◽  
Vol 39 (4) ◽  
pp. 567-593 ◽  
Author(s):  
Susan E. Rushing ◽  
Daniel D. Langleben
Keyword(s):  
Brain Imaging ◽  
Functional Imaging ◽  
Brain Structure ◽  
Neuropsychological Testing ◽  
Photon Emission ◽  
Structure And Function ◽  
Emission Computed Tomography ◽  
Brain Structure And Function ◽  
And Function ◽  
The Brain

Neuropsychological testing—medical imaging of the brain structure and function—allows the expert to inform the court on the brain structure and function of the forensic examinee. Supported by extensive clinical use, neuropsychological testing and structural imaging in the form of computerized tomography and structural magnetic resonance imaging have achieved general acceptance in court. However, functional imaging such as functional MRI and nuclear medicine techniques, such as positron emission tomography (PET), have faced more admissibility challenges. While functional imaging is becoming an increasingly important tool in assessing neuropsychiatric illness, we surmise that evidentiary challenges are largely related to the phase of trial in which the nuclear study is offered as evidence. This article will review the basic science of functional nuclear imaging including PET and single photon emission computed tomography. We will then review cases where admissibility of these techniques has been challenged and consider whether and how nuclear brain imaging can influence the outcome of the trial.

fMRI and Human Pain Perception

2020 ◽  
pp. 497-516
Author(s):  
Giandomenico Iannetti ◽  
A. Vania Apkarian
Keyword(s):  
Human Brain ◽  
Brain Imaging ◽  
Pain Perception ◽  
Single Photon ◽  
Brain Activity ◽  
Activity Patterns ◽  
Photon Emission ◽  
Emission Computed Tomography ◽  
Subjective Perception ◽  
Brain Physiology

Almost 30 years ago, technology based on magnetic resonance imaging (MRI) made it possible to visualize the functional states of the human brain. This technology immediately spurred pain researchers to examine brain circuitry of human pain and relate brain activity patterns with verbal reports of subjective perception. There was a brief period prior to functional MRI (fMRI) when positron emission tomography (PET) and single-photon emission computed tomography (SPECT) technologies were used to identify brain states in humans reporting pain, but the noninvasiveness of fMRI and its higher spatial and temporal resolution quickly made the latter the preferred choice to study human brain physiology. Prior to the advent of such human brain imaging technologies, whether the neocortex was involved in pain perception was still an open question: In human brain injury studies, large cortical lesions seemed to have little effect on pain perception, and in animal electrophysiological studies (mostly done in anesthetized preparations) several years of single-unit electrophysiological explorations from large expanses of the cortex yielded a measly number of neurons responding to nociceptive stimuli and not a single neocortical column dedicated to nociception. What has been learned between the introduction of the technology and today? This chapter briefly reviews the subject, highlighting advances and novel insights and pointing to lingering gaps. It also outlines future directions from the viewpoint of understanding mechanisms for nociception, acute pain, and chronic pain. From a brain imaging viewpoint, the chapter tackles the last concepts regarding local neuronal representation and across neuronal integration of information.

Brain imaging in epilepsy

2019 ◽  
Vol 19 (5) ◽  
pp. 438-443 ◽  
Author(s):  
John S Duncan
Keyword(s):  
Brain Imaging ◽  
Epilepsy Surgery ◽  
Single Photon ◽  
Photon Emission ◽  
Ct Scanning ◽  
Three Dimensions ◽  
Epileptic Focus ◽  
Emission Computed Tomography ◽  
Positron Emission ◽  
Cerebral Pathology

Brain imaging with MRI identifies structural cerebral pathology that may give rise to seizures. The greatest yield is from MRI at 3T using epilepsy protocols, and reported by expert neuroradiologists who possess the full clinical data. X-ray CT scanning has a role in assessing patients with seizures in the context of an acute neurological illness. Identifying a relevant structural lesion with MRI is fundamental in the consideration of epilepsy surgery; it is crucial to establish if a lesion is relevant to the epilepsy or not. If no lesion is identified, developmental MRI and image processing may identify a subtle abnormality. Positron-emission tomography (PET) and single-photon emission computed tomography (SPECT) may identify focal functional abnormalities that infer the location of an epileptic focus. Functional MRI is useful for localising eloquent cortex, and tractography delineates crucial white matter tracts, so that these may be avoided in epilepsy surgery. Reviewing data in three dimensions aids visualisation of structural relationships and helps surgical planning.

Neuroimaging technologies

2020 ◽  
pp. 101-112
Author(s):  
Mark Woolrich ◽  
Mark Jenkinson ◽  
Clare Mackay
Keyword(s):  
Brain Imaging ◽  
Single Photon ◽  
Photon Emission ◽  
Experimental Medicine ◽  
Emission Computed Tomography ◽  
Positron Emission ◽  
Brain Structure And Function ◽  
Magnetic Resonance Imaging Mri ◽  
And Function ◽  
The Brain

The brain is a highly complex system that is inaccessible to biopsy, which puts human brain imaging at the heart of our attempts to understand psychiatric disorders. Imaging has the potential to uncover the pathophysiology, provide biomarkers for use in the development and monitoring of treatments, and stratify patients for studies and trials. This chapter introduces the three main brain imaging technologies that are used to assay brain structure and function: magnetic resonance imaging (MRI), molecular imaging positron emission tomography (PET), and single-photon emission computed tomography (SPECT); electrophysiology [electroencephoaography (EEG)]; and magnetoencephalograpy (MEG). The chapter outlines the principles behind their use and the nature of the information that can be extracted. Together, these brain imaging methods can provide complementary windows into the living brain as an increasingly essential suite of tools for experimental medicine in psychiatry.

scholarly journals Understanding early dementia: EEG, MRI, SPECT and memory evaluation

2015 ◽  
Vol 6 (1) ◽  
pp. 32-46 ◽  
Author(s):  
Davide Vito Moretti
Keyword(s):  
Cortical Thickness ◽  
Memory Impairment ◽  
Single Photon ◽  
Photon Emission ◽  
Brain Perfusion ◽  
Cortical Atrophy ◽  
Emission Computed Tomography ◽  
Power Ratio ◽  
The Difference ◽  
Frequency Power

AbstractBackground: An increase in the EEG upper/low a power ratio has been associated with mild cognitive impairment (MCI) due to Alzheimer’s disease (AD) and to the atrophy of temporoparietal brain areas. Subjects with a higher α3/α2 frequency power ratio showed lower brain perfusion than in the low α3/α2 group. The two groups show significantly different hippocampal volumes and correlation with q frequency activity. Methods: Seventy-four adult subjects with MCI underwent clinical and neuropsychological evaluation, electroencephalogram (EEG) recording, and high resolution 3D magnetic resonance imaging (MRI). Twenty-seven of them underwent EEG recording and perfusion single-photon emission computed tomography (SPECT) evaluation. The α3/α2 power ratio and cortical thickness were computed for each subject. The difference in cortical thickness between the groups was estimated. Results: In the higher upper/low a group, memory impairment was more pronounced in both the MRI group and the SPECT MCI groups. An increase in the production of q oscillations was associated with greater interhemisperic coupling between temporal areas. It also correlated with greater cortical atrophy and lower perfusional rate in the temporoparietal cortex. Conclusion: High EEG upper/low α power ratio was associated with cortical thinning and lower perfusion in temporoparietal areas. Moreover, both atrophy and lower perfusion rate significantly correlated with memory impairment in MCI subjects. Therefore, the increase in the EEG upper/low α frequency power ratio could be useful in identifying individuals at risk for progression to AD dementia in a clinical context.

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