Acute, reversible axonal energy failure during stroke-like episodes in MELAS.
The pathophysiology of stroke-like episodes in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) remains unresolved. Possible mechanisms include mitochondrial angiopathy, cytopathy, or both, collectively resulting in cellular energy depletion. To clarify disease mechanisms, axonal excitability properties were investigated in a 10-year-old child with MELAS. Serial assessments during a stroke-like episode revealed reversible depolarization of the axonal membrane consistent with disruption of energy-dependent processes. Axonal parameters correlated with the clinical assessment of central dysfunction and biochemical measures of acidosis. Novel axonal excitability techniques have established acute, reversible ischemic-like depolarization that may serve as a surrogate marker of central events that develop during stroke-like episodes in MELAS.
Farrar
Michelle A
MA
Neuroscience Research Australia, Barker Street, Randwick, Sydney, New South Wales 2031, Australia.
Lin
Cindy S-Y
CS
Krishnan
Arun V
AV
Park
Susanna B
SB
Andrews
Peter Ian
PI
Kiernan
Matthew C
MC
D000200:Action Potentials; D001369:Axons / Q000502:physiology*; D002648:Child; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000503:physiopathology*