Objective: To describe a European family with cortical tremor, epilepsy, and mental retardation, the pedigree of which indicates an autosomal dominant inheritance of the disease. Design: Clinical, laboratory, neurophysiological, and neuroimaging data were studied. Setting: Institute for research on mental retardation. Patients: Two siblings (aged 25 and 28 years) and their 49- year-old mother had postural and action tremor, seizures, and mental retardation Only tremor was present in the maternal grandmother (aged 68 years). The electroencephalogram showed diffuse spike-and-wave complexes and/or posterior spikes, and a photoparoxysmal response in the 4 subjects. The typical electrophysiologic features of cortical reflex myoclonus, such as giant somatosensory evoked potentials, enhancement of the C-reflex, and jerk- locked premyoclonus spikes, were found in all patients. Conclusion: This syndrome may represent a specific form of familial cortical tremor with a benign form of epilepsy and a new genetic model of cortical hyperexcitability inherited with an autosomal dominant mechanism.
|Number of pages||5|
|Journal||Archives of Neurology|
|Publication status||Published - Dec 1998|
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