White matter involvement in mitochondrial diseases

Tally Lerman-Sagie*, Esther Leshinsky-Silver, Nathan Watemberg, Yehudit Luckman, Dorit Lev

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review


White matter involvement is recently being realized as a common finding in mitochondrial disorders. It is considered an inherent part of the classical mitochondrial syndromes which are usually associated with alterations in the mitochondrial DNA such as: Leigh disease, Kearns-Sayre syndrome, mitochondrial encephalomyopathy lactic acidosis, and stroke like episodes, mitochondrial neuro-gastro-intestinal encephalomyopathy and Leber's hereditary optic neuropathy. White matter involvement is also described in mitochondrial disorders due to mutations in the nuclear DNA which are transmitted in an autosomal pattern. MRI findings suggestive of a mitochondrial disease are: small cyst-like lesions in abnormal white matter, involvement of both cerebral and cerebellar white matter, and a combination of a leukoencephalopathy with bilateral basal ganglia lesions. The clinical manifestations may be disproportionate to the extent of white matter involvement. Other organs may frequently be involved. The onset is often in infancy with a neurodegenerative course. The finding of a leukoencephalopathy in a patient with a complex neurologic picture and multisystem involvement should prompt a thorough mitochondrial evaluation.

Original languageEnglish
Pages (from-to)127-136
Number of pages10
JournalMolecular Genetics and Metabolism
Issue number2
StatePublished - Feb 2005
Externally publishedYes


  • Kearns-Sayre syndrome
  • Leigh disease
  • Leukoencephalopathy
  • Mitochondrial disorders
  • Mitochondrial encephalomyopathy lactic acidosis and stroke like episodes
  • Mitochondrial neuro-gastro-intestinal encephalomyopathy
  • White matter


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