The neurologic manifestations of mitochondrial disease.
The nervous system contains some of the body's most metabolically demanding cells that are highly dependent on ATP produced via mitochondrial oxidative phosphorylation. Thus, the neurological system is consistently involved in patients with mitochondrial disease. Symptoms differ depending on the part of the nervous system affected. Although almost any neurological symptom can be due to mitochondrial disease, there are select symptoms that are more suggestive of a mitochondrial problem. Certain symptoms that have become sine qua non with underlying mitochondrial cytopathies can serve as diagnostic "red-flags." Here, the typical and atypical presentations of mitochondrial disease in the nervous system are reviewed, focusing on "red flag" neurological symptoms as well as associated symptoms that can occur in, but are not specific to, mitochondrial disease. The multitudes of mitochondrial syndromes are not reviewed in-depth, though a select few are discussed in some detail.
Parikh
Sumit
S
Neurogenetics and Metabolism, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA. sumit.parikh@gmail.com
D000328:Adult; D002648:Child; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D018450:Disease Progression; D006801:Humans; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics; D009460:Neurologic Examination; D013577:Syndrome