Connectivity measures suggest a sub-cortical generator of myoclonus in Angelman syndrome |
| |
| Affiliation: | 1. Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy;2. Regional Epilepsy Centre, Great Metropolitan Hospital “Bianchi-Melacrino-Morelli”, Reggio Calabria, Italy;3. Department of Neurophysiopathology, Fondazione Istituto Neurologico Carlo Besta, Milan, Italy;4. Oasi Research Institute, IRCCS, Troina, Italy;5. Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy;1. Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL), Institute of Neurology, London, United Kingdom;2. Department of Neurology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands;3. Dipartimento di Scienze Neurologiche e del Movimento, Università di Verona, Verona, Italy;4. Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom;5. Department of Clinical Neurophysiology, National Hospital for Neurology and Neurosurgery, London, United Kingdom;6. Department of Cell Sciences, St George''s University, London, United Kingdom;1. Department of Neurology, Haeundae Paik Hospital, Inje University College of Medicine, Busan, South Korea;2. Department of Health Science and Technology, Inje University, Gimhae, South Korea;3. Department of Biomedical Engineering/u-HARC, Inje University, Gimhae, South Korea |
| |
| Abstract: | ObjectiveThe clinical and neurophysiological characteristics of myoclonus in Angelman syndrome (AS) have been evaluated in single case or small cohorts, with contrasting results. We evaluated the features of myoclonus in a wide cohort of AS patients.MethodsWe performed polygraphic EEG-EMG recording in 24 patients with genetically confirmed AS and myoclonus. Neurophysiological investigations included jerk-locked back-averaging (JLBA), cortico-muscular coherence (CMC) and generalised partial directed coherence (GPDC). CMC and GPDC analyses were compared to those obtained from 10 healthy controls (HC).ResultsTwenty-four patients (aged 3–35 years, median 20) were evaluated. Sequences of quasi-continuous rhythmic jerks mostly occurred at alpha frequency or just below (mean 8.4 ± 1.4 Hz), without EEG correlate. JLBA did not show any clear transient preceding the jerks. CMC showed bilateral over-threshold CMC in alpha band that was prominent on the contralateral hemisphere in the patient group as compared to HC group. GPDC showed a significantly higher alpha outflow from both hemispheres toward activated muscles in the patient group, and a significantly higher beta outflow from contralateral hemisphere in the HC group.ConclusionsThese neurophysiological findings suggest a subcortical generator of myoclonus in AS.SignificanceMyoclonus in AS has not a cortical origin as previously hypothesised. |
| |
| Keywords: | Jerks Polygraphy EEG Jerk-locked back averaging Coherence AR" },{" #name" :" keyword" ," $" :{" id" :" k0035" }," $$" :[{" #name" :" text" ," _" :" autoregressive AS" },{" #name" :" keyword" ," $" :{" id" :" k0045" }," $$" :[{" #name" :" text" ," _" :" Angelman Syndrome C" },{" #name" :" keyword" ," $" :{" id" :" k0055" }," $$" :[{" #name" :" text" ," _" :" central CMC" },{" #name" :" keyword" ," $" :{" id" :" k0065" }," $$" :[{" #name" :" text" ," _" :" cortico-muscular coherence Co" },{" #name" :" keyword" ," $" :{" id" :" k0075" }," $$" :[{" #name" :" text" ," _" :" contralateral Cz" },{" #name" :" keyword" ," $" :{" id" :" k0085" }," $$" :[{" #name" :" text" ," _" :" central vertex F" },{" #name" :" keyword" ," $" :{" id" :" k0095" }," $$" :[{" #name" :" text" ," _" :" frontal Fz" },{" #name" :" keyword" ," $" :{" id" :" k0105" }," $$" :[{" #name" :" text" ," _" :" frontal vertex GPDC" },{" #name" :" keyword" ," $" :{" id" :" k0115" }," $$" :[{" #name" :" text" ," _" :" generalised partial directed coherence HC" },{" #name" :" keyword" ," $" :{" id" :" k0125" }," $$" :[{" #name" :" text" ," _" :" healthy controls Ip" },{" #name" :" keyword" ," $" :{" id" :" k0135" }," $$" :[{" #name" :" text" ," _" :" ipsilateral JLBA" },{" #name" :" keyword" ," $" :{" id" :" k0145" }," $$" :[{" #name" :" text" ," _" :" jerk-locked back-averaging P" },{" #name" :" keyword" ," $" :{" id" :" k0155" }," $$" :[{" #name" :" text" ," _" :" parietal Pz" },{" #name" :" keyword" ," $" :{" id" :" k0165" }," $$" :[{" #name" :" text" ," _" :" parietal vertex ROI" },{" #name" :" keyword" ," $" :{" id" :" k0175" }," $$" :[{" #name" :" text" ," _" :" region of interest Ve" },{" #name" :" keyword" ," $" :{" id" :" k0185" }," $$" :[{" #name" :" text" ," _" :" vertex |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
