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Cortical myoclonus in angelman syndrome
Author(s) -
Guerrini Renzo,
Bonanni Paolo,
de Lorey Timothy M.,
Serratosa José M.,
Moncla Anne,
Malzac Perrine,
Dravet Charlotte,
Igvet Marie Odile,
Bureau Michelle,
Genton Pierre,
Suisse Georges,
Thomas Pierre,
Sartucci Ferdinando,
Simi Paolo
Publication year - 1996
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410400109
Subject(s) - angelman syndrome , myoclonus , psychology , medicine , neuroscience , biology , genetics , gene
Angelman syndrome (AS) results from lack of genetic contribution from maternal chromosome 15q11–13. This region encompasses three GABA A receptor subunit genes (β3, α5, and γ3). The characteristic phenotype of AS is severe mental retardation, ataxic gait, tremulousness, and jerky movements. We studied the movement disorder in 11 AS patients, aged 3 to 28 years. Two patients had paternal uniparental disomy for chromosome 15, 8 had a <3 Mb deletion, and 1 had a microdeletion involving loci D15S10, D15S113, and GABRB3. All patients exhibited quasicontinuous rhythmic myoclonus mainly involving hands and face, accompained by rhythmic 5‐ to 10‐Hz electroencephalographic (EEG) activity. Electromyographic bursts lasted 35 ± 13 msec and had a frequency of 11 ± 2.4 Hz. Burst‐locked EEG averaging in 5 patients, generated a premyoclonus transient preceding the burst by 19 ± 5 msec. A cortical spread pattern of myoclonic cortical activity was observed. Seven patients also demonstrated myoclonic seizures. No giant somatosensory evoked potentials or C‐reflex were observed. The silent period following motor evoked potentials was shortened by 70%, indicating motor cortex hyperexcitability. Treatment with piracetam in 5 patients significantly improved myoclonus. We conclude that spontaneous, rhythmic, fast‐bursting cortical myoclonus is a prominent feature of AS.