title: Functional involvement of central nervous system in mitochondrial disorders.
abstract: Thirty-nine patients with mitochondrial diseases were studied with somatosensory and motor evoked potentials. Sixteen patients (41%) had clinical and 12 (31%) had neuroradiological evidence of central nervous system involvement. The overall incidence of electrophysiological abnormalities was 64%. Abnormal evoked potentials were also found in a significant percentage (33%) of patients with pure myopathic forms of mitochondrial diseases and in an asymptomatic carrier of MERRF mutation. Of the individual tests, somatosensory evoked potentials were abnormal in 49% of the patients and motor evoked potentials were abnormal in 46% of the patients. The outcome is that electrophysiological evidence of central nervous system involvement is present in a high percentage of patients with mitochondrial disorders, and that the threshold for central nervous system electrophysiological abnormalities is well below that for clinical and/or radiological manifestations.
authors.affiliation: Istituto di Neurologia, Università Cattolica, Rome, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Di Lazzaro
authors.forename: D
authors.initials: D
authors.lastname: Restuccia
authors.forename: S
authors.initials: S
authors.lastname: Servidei
authors.forename: M
authors.initials: M
authors.lastname: Valeriani
authors.forename: R
authors.initials: R
authors.lastname: Nardone
authors.forename: G
authors.initials: G
authors.lastname: Manfredi
authors.forename: G
authors.initials: G
authors.lastname: Silvestri
authors.forename: E
authors.initials: E
authors.lastname: Ricci
authors.forename: P
authors.initials: P
authors.lastname: Tonali
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002490:Central Nervous System / Q000503:physiopathology*; D002648:Child; D004569:Electroencephalography; D019054:Evoked Potentials, Motor / Q000502:physiology*; D005073:Evoked Potentials, Somatosensory / Q000502:physiology*; D005260:Female; D006801:Humans; D008280:Magnetics; D008297:Male; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology*; D009154:Mutation; D011930:Reaction Time / Q000502:physiology