Cortical myoclonus in childhood and juvenile onset Huntington's disease

Alberto Albanese, Nardo Nardocci, Davide Rossi Sebastiano, Paola Soliveri, Ferruccio Panzica, Isabella Moroni, Cinzia Gellera, Isabella Gilioli, Claudia Ciano, Silvana Franceschetti, Laura Canafoglia

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11 Citazioni (Scopus)

Abstract

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.
Lingua originaleEnglish
pagine (da-a)794-797
Numero di pagine4
RivistaPARKINSONISM & RELATED DISORDERS
Volume18
DOI
Stato di pubblicazionePubblicato - 2012

Keywords

  • Coherence analysis
  • Evoked Potentials, Somatosensory
  • Myoclonus
  • Progressive myoclonus epilepsy
  • Adult
  • Case-Control Studies
  • Cerebral Cortex
  • Child
  • Electroencephalography
  • Electromyography
  • Humans
  • Huntington Disease
  • Transcranial Magnetic Stimulation
  • Juvenile huntington disease

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