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Journal Article
[Cerebral blood flow and metabolism in Lafora disease].
Rinshō Shinkeigaku = Clinical Neurology 1995 Februrary
An 18-year-old male manifesting intellectual deterioration and negative myoclonus was diagnosed as Lafora disease by the demonstration of Lafora bodies in the skin and muscle biopsy. The cortical evoked potential to electric stimulation of the median nerve at wrist showed the giant SEP, suggesting hyperexcitability of the sensory motor cortex. Cerebral blood flow, and cerebral glucose and oxygen metabolism were investigated by positron emission tomography (PET) in order to clarify the pathophysiological process in Lafora disease. The result showed diffusely decreased cortical glucose metabolic rate and cerebral blood flow, and moderately lowered oxygen metabolic rate. There was no increase in blood flow or glucose and oxygen metabolism in the sensorimotor cortex in spite of the presence of giant SEP. The ratio of the glucose to oxygen metabolism was not different from the mean value obtained from nine normal subjects. Based on these findings and review of the literature, it is unlikely that there is a significant deficit in cortical energy metabolism in patients with Lafora disease and it would be less plausible to have some enzymatic deficits in glucose metabolic process.
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