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Mitochondrial Leukoencephalopathy

  • Jacob Valk
  • Marjo S. van der Knaap

Abstract

Mitochondrial dysfunction is central to the pathogenesis of certain rare neurological diseases. Mitochondrial disorders are a clinically and biochemically heterogeneous group of disorders which are characterized by structurally, functionally, or numerically abnormal mitochondria. Although the clinical signs and symptoms and course of disease show considerable variation, three broad clinical categories can be distinguished, as is explained in the introduction on mitochondria and mitochondrial dysfunction. The first two categories comprise the mitochondrial myopathies with limb weakness and fatigability with or without a chronic progressive external ophthalmoplegia. The third category comprises the mitochondrial encephalomyopathies, with the accent on CNS pathology. Usually infants and young children are affected (congenital, early-infantile, infantile variants), but older children and adults may also be affected (juvenile and adult variants). The course of disease may be acute, subacute, chronic and progressive, or remitting.

Keywords

White Matter Basal Ganglion White Matter Lesion Sensorineural Hearing Loss Mitochondrial Myopathy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1989

Authors and Affiliations

  • Jacob Valk
    • 1
  • Marjo S. van der Knaap
    • 2
  1. 1.Department of Diagnostic Radiology and NeuroradiologyFree University HospitalAmsterdamThe Netherlands
  2. 2.Department of Child NeurologyAcademic HospitalUtrechtThe Netherlands

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