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Fixation-sensitive myoclonus in Lafora disease.
S Kumada1, M Kubota, M Hayashi
1Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan. skumada@tmnh.fuchu.tokyo.jp
Neurology
|May 24, 2006
Summary
Passive eye closure suppressed myoclonus in a Lafora disease patient. Fixation enhanced myoclonus, linked to abnormal insular cortex activation in visual pathways.
Area of Science:
- Neuroscience
- Neurology
- Genetics
Background:
- Lafora disease is a rare, fatal, autosomal recessive genetic epilepsy.
- Myoclonus is a common and disabling symptom in Lafora disease.
Observation:
- A patient with Lafora disease experienced myoclonus suppression upon passive eye closure.
- Neurophysiologic studies identified visual fixation as a significant enhancer of myoclonus.
Findings:
- Magnetoencephalography revealed abnormal activation in the visual corticocortical pathway via the insular cortex in the patient, differing from controls.
- This abnormal insular cortex activation is hypothesized to trigger fixation-sensitive myoclonus.
Implications:
- This finding offers new insights into the pathophysiology of Lafora disease.
- Understanding the role of the insular cortex may lead to novel therapeutic strategies for myoclonus in Lafora disease.