Document Detail

Cortical myoclonus in Angelman syndrome.
MedLine Citation:
PMID:  8687190     Owner:  NLM     Status:  MEDLINE    
Angelman syndrome (AS) results from lack of genetic contribution from maternal chromosome 15q11-13. This region encompasses three GABAA receptor subunit genes (beta3, alpha5, and gamma3). 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, accompanied 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.
R Guerrini; T M De Lorey; P Bonanni; A Moncla; C Dravet; G Suisse; M O Livet; M Bureau; P Malzac; P Genton; P Thomas; F Sartucci; P Simi; J M Serratosa
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Annals of neurology     Volume:  40     ISSN:  0364-5134     ISO Abbreviation:  Ann. Neurol.     Publication Date:  1996 Jul 
Date Detail:
Created Date:  1996-08-21     Completed Date:  1996-08-21     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7707449     Medline TA:  Ann Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  39-48     Citation Subset:  IM    
Insitute of Child Neurology and Psychiatry, University of Pisa, Italy.
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MeSH Terms
Angelman Syndrome / complications*,  genetics
Anticonvulsants / therapeutic use
Cerebral Cortex / physiopathology*
Child, Preschool
Chromosomes, Human, Pair 15
Evoked Potentials, Motor
Evoked Potentials, Somatosensory
Gene Deletion
Myoclonus / complications*,  drug therapy,  physiopathology*
Piracetam / therapeutic use
Polymerase Chain Reaction
Receptors, GABA / genetics
Reg. No./Substance:
0/Anticonvulsants; 0/Receptors, GABA; 7491-74-9/Piracetam

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