Imaging in X-Linked Adrenoleukodystrophy

2021 ◽  
Author(s):  
Stephanie I.W. van de Stadt ◽  
Irene C. Huffnagel ◽  
Bela R. Turk ◽  
Marjo S. van der Knaap ◽  
Marc Engelen

AbstractMagnetic resonance imaging (MRI) is the gold standard for the detection of cerebral lesions in X-linked adrenoleukodystrophy (ALD). ALD is one of the most common peroxisomal disorders and is characterized by a defect in degradation of very long chain fatty acids (VLCFA), resulting in accumulation of VLCFA in plasma and tissues. The clinical spectrum of ALD is wide and includes adrenocortical insufficiency, a slowly progressive myelopathy in adulthood, and cerebral demyelination in a subset of male patients. Cerebral demyelination (cerebral ALD) can be treated with hematopoietic cell transplantation (HCT) but only in an early (pre- or early symptomatic) stage and therefore active MRI surveillance is recommended for male patients, both pediatric and adult. Although structural MRI of the brain can detect the presence and extent of cerebral lesions, it does not predict if and when cerebral demyelination will occur. There is a great need for imaging techniques that predict onset of cerebral ALD before lesions appear. Also, imaging markers for severity of myelopathy as surrogate outcome measure in clinical trials would facilitate drug development. New quantitative MRI techniques are promising in that respect. This review focuses on structural and quantitative imaging techniques—including magnetic resonance spectroscopy, diffusion tensor imaging, MR perfusion imaging, magnetization transfer (MT) imaging, neurite orientation dispersion and density imaging (NODDI), and myelin water fraction imaging—used in ALD and their role in clinical practice and research opportunities for the future.

Author(s):  
A. Busato ◽  
P. Fumene Feruglio ◽  
P.P. Parnigotto ◽  
P. Marzola ◽  
A. Sbarbati

In vivo imaging techniques can be integrated with classical histochemistry to create an actual histochemistry of water. In particular, Magnetic Resonance Imaging (MRI), an imaging technique primarily used as diagnostic tool in clinical/preclinical research, has excellent anatomical resolution, unlimited penetration depth and intrinsic soft tissue contrast. Thanks to the technological development, MRI is not only capable to provide morphological information but also and more interestingly functional, biophysical and molecular. In this paper we describe the main features of several advanced imaging techniques, such as MRI microscopy, Magnetic Resonance Spectroscopy, functional MRI, Diffusion Tensor Imaging and MRI with contrast agent as a useful support to classical histochemistry.


2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Anastasia Zikou ◽  
Chrissa Sioka ◽  
George A. Alexiou ◽  
Andreas Fotopoulos ◽  
Spyridon Voulgaris ◽  
...  

Glioblastoma (GBM) is the most common primary malignant type of brain neoplasm in adults and carries a dismal prognosis. The current standard of care for GBM is surgical excision followed by radiation therapy (RT) with concurrent and adjuvant temozolomide-based chemotherapy (TMZ) by six additional cycles. In addition, antiangiogenic therapy with an antivascular endothelial growth factor (VEGF) agent has been used for recurrent glioblastoma. Over the last years, new posttreatment entities such as pseudoprogression and pseudoresponse have been recognized, apart from radiation necrosis. This review article focuses on the role of different imaging techniques such as conventional magnetic resonance imaging (MRI), diffusion-weighted imaging (DWI), diffusion tensor imaging (DTI), dynamic contrast enhancement (DCE-MRI) and dynamic susceptibility contrast (DSE-MRI) perfusion, magnetic resonance spectroscopy (MRS), and PET/SPECT in differentiation of such treatment-related changes from tumor recurrence.


2017 ◽  
Vol 16 (02) ◽  
pp. 039-055 ◽  
Author(s):  
Mary Rolfes ◽  
Julie Guerin ◽  
Justin Brucker ◽  
Peter Kalina

AbstractEvaluation of abusive head trauma (AHT) in children is an ongoing diagnostic challenge, as there are currently no standard criteria or objective tests for differentiating AHT from accidental trauma. The use of neuroradiologic imaging has an increasingly important role in identifying AHT and often involves a combination of skull radiographs, computerized tomography (CT), and conventional magnetic resonance imaging (MRI) with diffusion-weighted imaging, susceptibility-weighted imaging, and occasionally magnetic resonance spectroscopy. Development of more advanced imaging techniques includes diffusion tensor imaging and arterial spin labeling. MRI may provide insight into different mechanisms of injury and long-term impacts of AHT. A better understanding of the available imaging modalities, typical findings, and their respective contribution to an accurate diagnosis can help guide physicians, other health care providers, as well as law enforcement in the evaluation of children with suspected AHT.


2020 ◽  
Vol 24 (04) ◽  
pp. 402-412
Author(s):  
Marc-André Weber ◽  
Armin M. Nagel ◽  
Hermien E. Kan ◽  
Mike P. Wattjes

AbstractThe role of neuromuscular imaging in the diagnosis of inherited and acquired muscle diseases has gained clinical relevance. In particular, magnetic resonance imaging (MRI), especially whole-body applications, is increasingly being used for the diagnosis and monitoring of disease progression. In addition, they are considered as a powerful outcome measure in clinical trials. Because many muscle diseases have a distinct muscle involvement pattern, whole-body imaging can be of diagnostic value by identifying this pattern and thus narrowing the differential diagnosis and supporting the clinical diagnosis. In addition, more advanced MRI applications including non-proton MRI, diffusion tensor imaging, perfusion MRI, T2 mapping, and magnetic resonance spectroscopy provide deeper insights into muscle pathophysiology beyond the mere detection of fatty degeneration and/or muscle edema. In this review article, we present and discuss recent data on these quantitative MRI techniques in muscle diseases, with a particular focus on non-proton imaging techniques.


Medicina ◽  
2021 ◽  
Vol 57 (3) ◽  
pp. 294
Author(s):  
Bożena Adamczyk ◽  
Karolina Węgrzyn ◽  
Tomasz Wilczyński ◽  
Justyna Maciarz ◽  
Natalia Morawiec ◽  
...  

Epilepsy is a common neurological disorder characterized by chronic, unprovoked and recurrent seizures, which are the result of rapid and excessive bioelectric discharges in nerve cells. Neuroimaging is used to detect underlying structural abnormalities which may be associated with epilepsy. This paper reviews the most common abnormalities, such as hippocampal sclerosis, malformations of cortical development and vascular malformation, detected by neuroimaging in patients with epilepsy to help understand the correlation between these changes and the course, treatment and prognosis of epilepsy. Magnetic resonance imaging (MRI) reveals structural changes in the brain which are described in this review. Recent studies indicate the usefulness of additional imaging techniques. The use of fluorodeoxyglucose positron emission tomography (FDG-PET) improves surgical outcomes in MRI-negative cases of focal cortical dysplasia. Some techniques, such as quantitative image analysis, magnetic resonance spectroscopy (MRS), functional MRI (fMRI), diffusion tensor imaging (DTI) and fibre tract reconstruction, can detect small malformations—which means that some of the epilepsies can be treated surgically. Quantitative susceptibility mapping may become the method of choice in vascular malformations. Neuroimaging determines appropriate diagnosis and treatment and helps to predict prognosis.


2020 ◽  
pp. 5802-5817
Author(s):  
Andrew J. Molyneux ◽  
Shelley Renowden ◽  
Marcus Bradley

The modern imaging techniques of computed tomography and magnetic resonance imaging for the demonstration of structural neurological disease have developed rapidly since their first introduction in the 1970s and 1980s, respectively. They have undergone further technological evolution, particularly in the last 10 years, and continue to do so. A variety of both computed tomography- and magnetic resonance imaging-based techniques can provide anatomical, angiographic, and functional information. In addition, biochemical data may be obtained using magnetic resonance spectroscopy and microstructural information can be obtained using diffusion tensor imaging. The choice between computed tomography or magnetic resonance imaging depends on several factors. This chapter explains the various applications of both techniques and the situations that can call for either, or both.


2011 ◽  
Vol 23 (S2) ◽  
pp. S50-S57 ◽  
Author(s):  
Klaus P. Ebmeier ◽  
Nicola Filippini ◽  
Verena Heise ◽  
Claire E. Sexton

ABSTRACTRelatively new developments in MRI, such as functional MRI (fMRI), magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI) are rapidly developing into imaging modalities that will become clinically available in the near future. They have in common that their signal is somewhat easier to interpret than structural MRI: fMRI mirrors excess cerebral blood flow, in many cases representing brain activity, MRS gives the average volume concentrations of specific chemical compounds, and DTI reflects “directedness” of micro-anatomical structures, of particular use in white matter where fiber bundle disruption can be detected with great sensitivity. While structural changes in MRI have been disappointing in giving a diagnosis of sufficient sensitivity and specificity, these newer methods hold out hope for elucidating pathological changes and differentiating patient groups more rigorously. This paper summarizes promising research results that will yet have to be translated into real life clinical studies in larger groups of patients (e.g. memory clinic patients). Where available, we have tried to summarize results comparing different types of dementia.


2018 ◽  
Vol 24 (22) ◽  
pp. 2515-2523 ◽  
Author(s):  
Tianbin Song ◽  
Xiaowei Han ◽  
Lei Du ◽  
Jing Che ◽  
Jing Liu ◽  
...  

Depression is a mental disorder with serious negative health outcomes. Its main clinical manifestations are depressed mood, slow thinking, loss of interest, and lack of energy. The rising incidence of depression has a major impact on patients and their families and imposes a substantial burden on society. With the rapid development of imaging technology in recent years, researchers have studied depression from different perspectives, including molecular, functional, and structural imaging. Many studies have revealed changes in structure, function, and metabolism in various brain regions in patients with depressive disorder. In this review, we summarize relevant studies of depression, including investigations using structural magnetic resonance imaging (MRI), functional MRI (task-state fMRI and resting-state fMRI), diffusion tensor imaging (DTI), magnetic resonance spectroscopy (MRS), brain network and molecular imaging (positron emission tomography [PET] and single photon emission computed tomography [SPECT]), which have contributed to our understanding of the etiology, neuropathology, and pathogenesis of depressive disorder.


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