Neuroimaging clinics of North America
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Neuroimaging is a potentially valuable tool to link individual differences in the human genome to structure and functional variations, narrowing the gaps in the casual chain from a given genetic variation to a brain disorder. Because genes are not usually expressed at the level of mental behavior, but are mediated by their molecular and cellular effects, molecular imaging could play a key role. This article reviews the literature using molecular imaging as an intermediate phenotype and/or biomarker for illness related to certain genetic alterations, focusing on the most common neurodegenerative disorders, Alzheimer's disease (AD) and Parkinson disease.
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Imaging genomics combines imaging-defined phenotypes with molecular determinants of disease. Recent studies have examined the relationship between MRI-derived feature sets and gene expression in gliomas, including glioblastoma (GBM). ⋯ The combination of clinical, genetic, and imaging data has improved prognostic modeling and has identified potential therapeutic targets. Many challenges remain in fully leveraging the associations between such large datasets, but even current methodology shows promise in helping to craft individually tailored treatments to patients with brain tumors and other diseases.
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Neuroimaging Clin. N. Am. · Feb 2015
ReviewNeuroimaging and genetic influence in treating brain neoplasms.
The current treatment of glioblastoma patients based on surgery, radiation, and chemotherapy has achieved modest improvement in progression-free survival. In this direction, personalized treatment is the next achievement for better patient management and increased overall survival. ⋯ MR imaging features and novel techniques are correlated with the main genetic aspects of such tumors. Posttreatment phenomena, such as pseudoprogression and pseudoresponse, are analyzed in association with the genetic expression of these tumors.
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Neuroimaging Clin. N. Am. · Feb 2015
ReviewBrain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases.
In this article, the genotype-MR phenotype correlation of the most common or clinically important inherited metabolic diseases (IMD) in the pediatric population is reviewed. A nonsystematic search of the PubMed/Medline database of relevant studies about "genotype-phenotype correlation" in IMD was performed. Some MR phenotypes related to specific gene mutations were found, such as bilateral hypertrophy of inferior olives in patients harboring POLG and SURF1 mutations, and central lesions in the cervical spinal cord in patients with nonketotic hyperglycinemia harboring GLRX5 gene mutation.
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Neuroimaging Clin. N. Am. · Feb 2015
ReviewImaging genomics of Glioblastoma: state of the art bridge between genomics and neuroradiology.
Glioblastoma (GBM) is the most common and most aggressive primary malignant tumor of the central nervous system. Recently, researchers concluded that the "one-size-fits-all" approach for treatment of GBM is no longer valid and research should be directed toward more personalized and patient-tailored treatment protocols. ⋯ Imaging genomics represents a new era as a noninvasive surrogate for genomic and molecular profile identification. This article discusses the basics of imaging genomics of GBM, its role in treatment decision-making, and its future potential in noninvasive genomic identification.