Mitochondrial diseases: neurological investigations

Evidence-based neurology checklist on mitochondrial diseases: neurological investigations: Brain imaging: indications Central nervous system signs Cognitive features Electroencephalogram (EEG) abnormalities Brain imaging: non-specific features Brain imaging: specific features Muscle biopsy…

Brain imaging: indications

  • Central nervous system signs
  • Cognitive features
  • Electroencephalogram (EEG) abnormalities

Brain imaging: non-specific features

Brain imaging: specific features

Muscle biopsy

Cerebrospinal fluid (CSF)

Electroencephalogram (EEG): features

Electromyogram (EMG)

Acronym

References

  1. Chinnery PF, Turnbull DM. Mitochondrial medicine. Q J Med 1997; 90:657-667.
  2. McFarland R, Turnbull DM. Batteries not included: diagnosis and management of mitochondrial disease. J Intern Med 2009; 265:210-228.
  3. Mattman A, O'Riley M, Waters PJ, et al. Diagnosis and management of patients with mitochondrial disease. BC Med J 2011; 53:177-182.
  4. Rahman S, Hanna MG. Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases. JNNP 2009; 80:943-953.
  5. Ng YS, Bindoff LA, Gorman GS, et al. Mitochondrial disease in adults: recent advances and future promise. Lancet Neurol 2021; 20:573-584. 
  6. And 6 more. Subscribe to see the full list

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