Abstract
Rett syndrome (RS) is one of the most frequent causes of mental retardation in females. As there are no known biochemical, genetic, or morphological markers, diagnosis is based on clinical phenotype including severe dementia, autism, truncal ataxia/apraxia, loss of purposeful hand movements, breathing abnormalities, stereotypies, seizures, and extrapyramidal signs. Myoclonus, although reported in some series, has never been characterized. We studied 10 RS patients, age 3 to 20 years, and observed myoclonus in 9. Severity of myoclonus did not correlate with that of the other symptoms or with age. Multifocal, arrhythmic, and asynchronous jerks mainly involved distal limbs. Electromyographic bursts lasted 48 +/- 12 msec. Burst-locked electroencephalographic averaging generated a contralateral centroparietal premyoclonus transient preceding the burst by 34 +/- 7.2 msec. Motor evoked potentials showed normal latencies, indicating integrity of the corticospinal pathway. Somatosensory evoked potentials were enlarged. The C-reflex was hyperexcitable and markedly prolonged (62 +/- 4.3 msec), mainly due to increase in cortical relay time (28.4 +/- 4.5 msec). We conclude that RS patients show a distinctive pattern of cortical reflex myocl...Continue Reading
References
Nov 1, 1975·Electroencephalography and Clinical Neurophysiology·H Shibasaki, Y Kuroiwa
Sep 1, 1978·Brain : a Journal of Neurology·H ShibasakiY Kuroiwa
Aug 1, 1979·Neurology·M HallettC D Marsden
Dec 1, 1977·Journal of the Neurological Sciences·H ShibasakiS Tsuji
Aug 1, 1992·Electroencephalography and Clinical Neurophysiology·T UozumiY Murai
Jul 1, 1992·Journal of Child Neurology·R T ZoriC A Williams
Feb 1, 1991·Electroencephalography and Clinical Neurophysiology·H ShibasakiA Ikeda
Jan 1, 1991·Brain & Development·H YoshikawaM Arima
Feb 1, 1990·Neurology·P M FitzGeraldA K Percy
Sep 1, 1990·Pediatric Neurology·A OldforsB A Hagberg
Oct 1, 1990·Journal of Neurology, Neurosurgery, and Psychiatry·J A EyreV Ramesh
Jan 1, 1990·Movement Disorders : Official Journal of the Movement Disorder Society·P M FitzGeraldA K Percy
Apr 1, 1988·Annals of Neurology
May 11, 1985·Lancet·A T BarkerI L Freeston
Jan 1, 1986·American Journal of Medical Genetics. Supplement·E NiedermeyerS Naidu
Jan 1, 1986·American Journal of Medical Genetics. Supplement·B Hagberg, I Witt-Engerström
Mar 1, 1985·Brain : a Journal of Neurology·J A ObesoC D Marsden
Mar 1, 1985·Brain : a Journal of Neurology·H ShibasakiR Fukui
Jan 1, 1985·Brain & Development·S Rolando
Jul 1, 1984·Neurology·D E WilkinsN Alvarez
Oct 1, 1983·Annals of Neurology·B HagbergO Ramos
Apr 1, 1995·Neuropediatrics·M L BaumanD M Arin
Apr 1, 1995·Neuropediatrics·F HanefeldA Percy
Jul 1, 1995·Electroencephalography and Clinical Neurophysiology·A IkedaJ Kimura
Oct 1, 1994·Journal of Child Neurology·M E CornfordH V Vinters
Mar 1, 1995·Journal of Neuropathology and Experimental Neurology·D ArmstrongR Trivedi
Jun 1, 1994·Indian Pediatrics·V Kalra, D T Sud
Oct 1, 1994·Brain : a Journal of Neurology·P D ThompsonC D Marsden
Jan 1, 1993·Advances in Pediatrics·C M Iyama
May 1, 1993·Pediatric Neurology·H YamanouchiM Arima
Jan 1, 1993·Movement Disorders : Official Journal of the Movement Disorder Society·P BrownC D Marsden
Jan 1, 1993·Journal of Child Neurology·A Percy
Feb 1, 1996·Neuropediatrics·E BoltshauserT Deonna
Aug 1, 1996·Electroencephalography and Clinical Neurophysiology·Y UesakaI Kanazawa
Aug 1, 1996·Neuropediatrics·F Heinen, R Korinthenberg
Citations
Mar 11, 1999·Annals of Neurology·R GuerriniG Casari
Jul 12, 2002·Mental Retardation and Developmental Disabilities Research Reviews·Daniel G Glaze
Apr 12, 2003·Brain & Development·Katsuhiko OguroHiroatsu Hojo
May 10, 2003·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·Carlo Alberto TassinariRoberto Michelucci
Nov 19, 2002·Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society·Roberto Cantello
Sep 22, 2000·Epilepsia·P ManganottiA Fiaschi
Jul 20, 2005·Epilepsia·Yahya Agha KhaniEva Andermann
Sep 25, 2012·Epilepsia·Renzo Guerrini, Elena Parrini
May 1, 2009·Journal of Movement Disorders·Hyun-Dong Park, Hee-Tae Kim
Dec 12, 2001·Brain & Development·H G Dunn
Jul 25, 2012·Neuroscience Research·R Lalonde, C Strazielle
Jul 18, 2009·Epilepsy & Behavior : E&B·Karine Pelc, Bernard Dan
Apr 2, 2009·Epilepsy & Behavior : E&B·Giuseppe d'OrsiMauro G Minervini
May 29, 2007·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·E HoudayerF Cassim
Mar 6, 2007·Neurophysiologie clinique = Clinical neurophysiology·J-P Lefaucheur
Jun 3, 2008·Movement Disorders : Official Journal of the Movement Disorder Society·Teresa TemudoPatricia Maciel
Mar 19, 2014·Movement Disorders : Official Journal of the Movement Disorder Society·Christos GanosKailash P Bhatia
May 24, 2006·Brain Research Bulletin·Luca BonfiglioFerdinando Sartucci
May 2, 2016·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Natalija Krajnc, Janez Zidar
Oct 2, 2007·Seizure : the Journal of the British Epilepsy Association·Karine PelcBernard Dan
Oct 30, 2012·Epilepsy & Behavior : E&B·Giuseppe d'OrsiLuigi M Specchio
Aug 24, 2012·Journal of Child Neurology·A Nissenkorn, B Ben-Zeev
Oct 18, 2005·Journal of Child Neurology·Daniel G Glaze
Jun 2, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Ewa PapućTomasz Trojanowski
Sep 14, 2007·Movement Disorders : Official Journal of the Movement Disorder Society·Nardo NardocciBarbara Garavaglia
Jul 31, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Victor S C FungMarie Vidailhet
Jun 18, 2020·Frontiers in Integrative Neuroscience·Joni N SabyEric D Marsh
Jan 24, 2020·Movement Disorders Clinical Practice·Luca PolliniVincenzo Leuzzi
Mar 17, 2001·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·H G Dunn, P M MacLeod
Feb 19, 2000·Muscle & Nerve·H Shibasaki
Feb 9, 2020·Neuroscience·Lauren L Orefice
Jun 3, 2021·International Journal of Molecular Sciences·Kirill SmirnovOlga Sysoeva
Nov 18, 2004·Muscle & Nerve·Hiroshi Shibasaki, Mark Hallett
Oct 14, 2021·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Caren Armstrong, Eric D Marsh