Mitochondrial Syndromes with Leukoencephalopathies
نویسندگان
چکیده
منابع مشابه
Clinical approach to leukoencephalopathies.
Recent advances in biochemical and molecular genetics have led to the discovery of new leukoencephalopathies. Despite these advances, many patients with leukoencephalopathy remain undiagnosed. A systematic approach to the investigation of these patients is needed to select the most appropriate testing strategy. In this article, the author presents a clinical and magnetic resonance imaging (MRI)...
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Mitochondrial dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial respiratory chain (MRC) and, consequently, deficient energy production. MRC function depends on the coordinated expression of both nuclear (nDNA) and mitochondrial (mtDNA) genomes. Thus, mitochondrial diseases can be caused by genetic defects in either the...
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The understanding of the genetic basis of late-onset leukoencephalopathies has continued to increase in recent years. The most commonly presenting leukoencephalopathies in adulthood can be late-onset manifestations of metabolic pathways. The understanding of these diagnoses is crucial to the evaluation of adult patients presenting with leukoencephalopathies. The authors provide an overview of t...
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Increasing evidence showed that mitochondria play an important role in the development of myelodysplastic syndromes (MDS). Mitochondrial dysfunctions caused by mitochondrial DNA mutations, especially mitochondrial tRNA mutations, were found to be associated with MDS in many studies. However, the link between a candidate mitochondrial tRNA mutation and MDS was not clear. In this study, we invest...
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ژورنال
عنوان ژورنال: Seminars in Neurology
سال: 2012
ISSN: 0271-8235,1098-9021
DOI: 10.1055/s-0032-1306387