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@ARTICLE{Distelmaier:255493,
      author       = {Distelmaier, Felix and Klopstock, Thomas},
      title        = {{N}euroimaging in mitochondrial disease.},
      journal      = {Handbook of clinical neurology},
      volume       = {194},
      issn         = {0072-9752},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier},
      reportid     = {DZNE-2023-00294},
      pages        = {173-185},
      year         = {2023},
      abstract     = {The 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.},
      subtyp        = {Review Article},
      keywords     = {Humans / Leigh Disease: diagnosis / Leigh Disease:
                      pathology / Magnetic Resonance Imaging: methods /
                      Neuroimaging: methods / Brain: pathology / Mitochondrial
                      Diseases: genetics / MELAS Syndrome: diagnosis / MELAS
                      Syndrome: pathology / Lactic Acid / Brain (Other) / Central
                      nervous system (Other) / Leigh disease (Other) / Magnetic
                      resonance imaging (Other) / Neurodegeneration (Other) /
                      OXPHOS (Other) / Lactic Acid (NLM Chemicals)},
      cin          = {Clinical Research (Munich)},
      ddc          = {610},
      cid          = {I:(DE-2719)1111015},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36813312},
      doi          = {10.1016/b978-0-12-821751-1.00016-6},
      url          = {https://pub.dzne.de/record/255493},
}