Neuroimaging in Mitochondrial Disorders
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REVIEW
Neuroimaging in Mitochondrial Disorders Andrea L. Gropman
Published online: 4 December 2012 # The American Society for Experimental NeuroTherapeutics, Inc. 2012
Summary Mutations in either nuclear DNA or mitochondrial DNA can result in disruption of oxidative phosphorylation and lead to mitochondrial dysfunction. Mitochondrial disease manifestations occur predominantly in the central nervous system, peripheral nervous system, and/or involve several organ systems. The consequences range from manifestations of a single organ or tissues, such as muscle fatigue, if confined only to muscle, seizures, intellectual disabilities, dementia, and stroke (if to the central nervous system), leading to disability or even early death. The definitive diagnosis of a mitochondrial disorder can be difficult to establish. Criteria and checklists have been established and are more reflective of adult disease. However, in children, when symptoms suggest a mitochondrial disease, neuroimaging features may have more diagnostic impact and additionally these can be used to follow the course, evolution, and recovery of the disease. This review will demonstrate the common neuroimaging patterns in patients with mitochondrial disorders and point out how various newer neuroimaging modalities may be exploited to glean information as to the different aspects of mitochondrial dysfunction or resulting neurological and cognitive disruption, although reports in the literature using these methods remain sparse. Keywords Brain injury . diffusion tensor imaging (DTI) . functional MRI (fMRI) . inborn error of metabolism . metabolism . magnetic resonance imaging (MRI) . magnetic Electronic supplementary material The online version of this article (doi:10.1007/s13311-012-0161-6) contains supplementary material, which is available to authorized users. A. L. Gropman (*) Department of Pediatrics and Neurology, Children’s National Medical Center and the George Washington University of the Health Sciences, Washington, DC 20010, USA e-mail: [email protected]
resonance spectroscopy (MRS) . metabolism . mitochondrial disorder.
Introduction Mitochondria are small organelles measuring 0.5–1.0 microns that are found in the cytoplasm of all eukaryotic cells. Although they are small, they play a very important role in generating cellular energy, in the form of adenosine triphosphate (ATP). Mitochondria produce ATP via oxidative phosphorylation, a process involving a series of reduction-oxidation reactions during which electrons are transferred through several multimeric complexes on the inner mitochondrial membrane [1]. Complex V, the ATP synthase, is responsible for the synthesis of ATP from adenosine diphosphate (ADP) and inorganic phosphate (see Saneto and Sedensky, this supplement). The mitochondria have a complex and compact structure, consisting of 4 compartments in which distinct biochemical processes occur: 1) the inner membrane, 2) the outer membrane, 3) the intermembrane space, and 4) the matrix. The enzymes of the electron transport chai
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