Mitochondrial ataxias

Evidence-based neurology checklist on mitochondrial ataxias: Frequent causes Myoclonic epilepsy and ragged red fibers (MERRF) Neuropathy ataxia and retinitis pigmentosa (NARP) Mitochondrial encephalopathy lactic acidosis and stroke-like episodes (MELAS) Leber hereditary optic neuropathy + (LHON+)…

Frequent causes

  • Myoclonic epilepsy and ragged red fibers (MERRF)
  • Neuropathy ataxia and retinitis pigmentosa (NARP)
  • Mitochondrial encephalopathy lactic acidosis and stroke-like episodes (MELAS)
  • Leber hereditary optic neuropathy + (LHON+)
  • Kearns Sayre syndrome (KSS)
  • Leigh syndrome
  • Infantile-onset spinocerebellar ataxia (IOSCA)
  • Myoclonus epilepsy, mitochondrial myopathy and sensory ataxia (MEMSA)
  • Mitochondrial recessive ataxia syndrome (MIRAS)
  • Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
  • Alpers-Huttenlocher syndrome (AHS)

Other causes

Clinical features

References

  1. Lopriore P, Ricciarini V, Siciliano G, Mancuso M, Montano V. Mitochondrial ataxias: molecular classification and clinical heterogeneity. Neurol Int 2022; 14:337-356.
  2. Finsterer J. Mitochondrial ataxias. Can J Neurol Sci 2009; 36:543-553.
  3. Zhao Y, Zhao B, Ji K, Yan C. Fluctuating ataxia caused by mitochondrial tRNA (Lys) gene m.8363G > A variant. Neurol Sci 2022; 43:6589-6591.

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