Roles for imaging in understanding the pathophysiology, clinical evaluation, and management of patients with mitochondrial disease.
Primary mitochondrial disorders remain uncommon, but they enter into the differential diagnosis for a broad range of syndromes. Functional and structural imaging methods offer important clinical tools for patient assessment when these diseases are suspected. Although the findings are not specific, in the appropriate clinical context, these tests can guide the use of more specific or invasive investigations. They have provided considerable information concerning the underlying pathophysiology of this heterogeneous range of disorders. Monitoring these changes potentially facilitates the identification of new therapies and their individualization.
Centre for Functional Magnetic Resonance Imaging of the Brain, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, United Kingdom.
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D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D019265:Spectroscopy, Near-Infrared; D014055:Tomography, Emission-Computed; D015899:Tomography, Emission-Computed, Single-Photon; D014057:Tomography, X-Ray Computed