TY - JOUR
T1 - Cortical myoclonus in childhood and juvenile onset Huntington's disease
AU - Rossi Sebastiano, Davide
AU - Soliveri, Paola
AU - Panzica, Ferruccio
AU - Moroni, Isabella
AU - Gellera, Cinzia
AU - Gilioli, Isabella
AU - Nardocci, Nardo
AU - Ciano, Claudia
AU - Albanese, Alberto
AU - Franceschetti, Silvana
AU - Canafoglia, Laura
PY - 2012
Y1 - 2012
N2 - Objective: Huntington's disease (HD) appearing before the age of 20 years gives rise to a distinct phenotype with respect to the classical adult-onset disease. Here we describe three patients with childhood or juvenile HD onset presenting with action myoclonus. Methods: We performed jerk-locked back-averaging (JLBA), EEG-EMG coherence and phase analysis, long-loop reflexes (LLRs) and somatosensory evoked potentials (SSEPs). In one patient, we also performed transcranial magnetic stimulation (TMS) using single and paired pulses. Results: In all patients, the EMG features revealed movement activated quasi-rhythmic repetitive jerks; the JLBA and EEG-EMG spectral and coherence profiles indicated a cortical generator of the myoclonus. All patients had enhanced LLRs during muscle contraction, while none showed giant SSEPs. The evaluation of intracortical inhibition by means of TMS revealed reduced inhibition at short and long interstimulus intervals. Conclusions: The rhythmic course of the action myoclonus and the characteristics of the LLRs suggest that myoclonus is due to a reverberant circuit involving the motor cortex, possibly because of an imbalance between excitatory and inhibitory cortical neuronal systems. Significance: Our findings suggest a similar cortical dysfunction in childhood and juvenile onset HD, which probably results from a specific circuitry impairment. © 2012 Elsevier Ltd.
AB - Objective: Huntington's disease (HD) appearing before the age of 20 years gives rise to a distinct phenotype with respect to the classical adult-onset disease. Here we describe three patients with childhood or juvenile HD onset presenting with action myoclonus. Methods: We performed jerk-locked back-averaging (JLBA), EEG-EMG coherence and phase analysis, long-loop reflexes (LLRs) and somatosensory evoked potentials (SSEPs). In one patient, we also performed transcranial magnetic stimulation (TMS) using single and paired pulses. Results: In all patients, the EMG features revealed movement activated quasi-rhythmic repetitive jerks; the JLBA and EEG-EMG spectral and coherence profiles indicated a cortical generator of the myoclonus. All patients had enhanced LLRs during muscle contraction, while none showed giant SSEPs. The evaluation of intracortical inhibition by means of TMS revealed reduced inhibition at short and long interstimulus intervals. Conclusions: The rhythmic course of the action myoclonus and the characteristics of the LLRs suggest that myoclonus is due to a reverberant circuit involving the motor cortex, possibly because of an imbalance between excitatory and inhibitory cortical neuronal systems. Significance: Our findings suggest a similar cortical dysfunction in childhood and juvenile onset HD, which probably results from a specific circuitry impairment. © 2012 Elsevier Ltd.
KW - Adult
KW - Case-Control Studies
KW - Cerebral Cortex
KW - Child
KW - Coherence analysis
KW - Electroencephalography
KW - Electromyography
KW - Evoked Potentials, Somatosensory
KW - Humans
KW - Huntington Disease
KW - Juvenile huntington disease
KW - Myoclonus
KW - Progressive myoclonus epilepsy
KW - Transcranial Magnetic Stimulation
KW - Adult
KW - Case-Control Studies
KW - Cerebral Cortex
KW - Child
KW - Coherence analysis
KW - Electroencephalography
KW - Electromyography
KW - Evoked Potentials, Somatosensory
KW - Humans
KW - Huntington Disease
KW - Juvenile huntington disease
KW - Myoclonus
KW - Progressive myoclonus epilepsy
KW - Transcranial Magnetic Stimulation
UR - http://hdl.handle.net/10807/170526
U2 - 10.1016/j.parkreldis.2012.03.011
DO - 10.1016/j.parkreldis.2012.03.011
M3 - Article
SN - 1353-8020
VL - 18
SP - 794
EP - 797
JO - PARKINSONISM & RELATED DISORDERS
JF - PARKINSONISM & RELATED DISORDERS
ER -