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000255493 0247_ $$2ISSN$$a2212-4152
000255493 0247_ $$2doi$$a10.1016/b978-0-12-821751-1.00016-6
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000255493 037__ $$aDZNE-2023-00294
000255493 041__ $$aEnglish
000255493 082__ $$a610
000255493 1001_ $$aDistelmaier, Felix$$b0
000255493 245__ $$aNeuroimaging in mitochondrial disease.
000255493 260__ $$aAmsterdam [u.a.]$$bElsevier$$c2023
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000255493 520__ $$aThe anatomic complexity of the brain in combination with its high energy demands makes this organ specifically vulnerable to defects of mitochondrial oxidative phosphorylation. Therefore, neurodegeneration is a hallmark of mitochondrial diseases. The nervous system of affected individuals typically shows selective regional vulnerability leading to distinct patterns of tissue damage. A classic example is Leigh syndrome, which causes symmetric alterations of basal ganglia and brain stem. Leigh syndrome can be caused by different genetic defects (>75 known disease genes) with variable disease onset ranging from infancy to adulthood. Other mitochondrial diseases are characterized by focal brain lesions, which is a core feature of MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes). Apart from gray matter, also white matter can be affected by mitochondrial dysfunction. White matter lesions vary depending on the underlying genetic defect and may progress into cystic cavities. In view of the recognizable patterns of brain damage in mitochondrial diseases, neuroimaging techniques play a key role in diagnostic work-up. In the clinical setting, magnetic resonance imaging (MRI) and MR spectroscopy (MRS) are the mainstay of diagnostic work-up. Apart from visualization of brain anatomy, MRS allows the detection of metabolites such as lactate, which is of specific interest in the context of mitochondrial dysfunction. However, it is important to note that findings like symmetric basal ganglia lesions on MRI or a lactate peak on MRS are not specific, and that there is a broad range of disorders that can mimic mitochondrial diseases on neuroimaging. In this chapter, we will review the spectrum of neuroimaging findings in mitochondrial diseases and discuss important differential diagnoses. Moreover, we will give an outlook on novel biomedical imaging tools that may provide interesting insights into mitochondrial disease pathophysiology.
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000255493 650_7 $$2Other$$aBrain
000255493 650_7 $$2Other$$aCentral nervous system
000255493 650_7 $$2Other$$aLeigh disease
000255493 650_7 $$2Other$$aMagnetic resonance imaging
000255493 650_7 $$2Other$$aNeurodegeneration
000255493 650_7 $$2Other$$aOXPHOS
000255493 650_7 $$033X04XA5AT$$2NLM Chemicals$$aLactic Acid
000255493 650_2 $$2MeSH$$aHumans
000255493 650_2 $$2MeSH$$aLeigh Disease: diagnosis
000255493 650_2 $$2MeSH$$aLeigh Disease: pathology
000255493 650_2 $$2MeSH$$aMagnetic Resonance Imaging: methods
000255493 650_2 $$2MeSH$$aNeuroimaging: methods
000255493 650_2 $$2MeSH$$aBrain: pathology
000255493 650_2 $$2MeSH$$aMitochondrial Diseases: genetics
000255493 650_2 $$2MeSH$$aMELAS Syndrome: diagnosis
000255493 650_2 $$2MeSH$$aMELAS Syndrome: pathology
000255493 650_2 $$2MeSH$$aLactic Acid
000255493 7001_ $$0P:(DE-2719)2810704$$aKlopstock, Thomas$$b1$$eLast author$$udzne
000255493 773__ $$0PERI:(DE-600)2415767-3$$a10.1016/b978-0-12-821751-1.00016-6$$p173-185$$tHandbook of clinical neurology$$v194$$x0072-9752$$y2023
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000255493 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2810704$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b1$$kDZNE
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