Clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy

Zhidong Cen, Chunping Huang, Houmin Yin, Xueping Ding, Fei Xie, Xingjiao Lu, Zhiyuan Ouyang, Yuting Lou, Xia Qiu, Zhongjin Wang, Jianfeng Xiao, Meiping Ding, Wei Luo

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Objective: Familial cortical myoclonic tremor with epilepsy is a rare epilepsy syndrome. Herein, we report on nine Chinese familial cortical myoclonic tremor with epilepsy pedigrees to delineate its clinical and neurophysiological features. Methods: Detailed clinical and neurophysiological data were obtained. Somatosensory evoked potential amplitudes and clinical profile were analyzed using multilevel statistical models. Age-at-onset anticipation was analyzed using Kaplan-Meier survival analysis. Results: Fifty-five patients were interviewed directly, whose mean age at onset of cortical tremor and generalized tonic-clonic seizures were 31.0 ± 8.3 and 36.0 ± 7.9 years. Giant somatosensory evoked potential was detected in 87.5% (28 of 32) of patients, and long-latency cortical reflex was detected in 93.5% (29 of 31). Cortical tremor severity was significantly higher in patients with longer disease duration of cortical tremor (P = 0.0061). Somatosensory evoked potential amplitudes were significant higher in patients with higher level of cortical tremor severity (P = 0.0003) and those using antiepileptic drugs (P = 0.0150). Age-at-onset anticipation of cortical tremor with paternal transmission was found with statistical significance (P = 0.022). Conclusion: We provided the clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy patients. This study is reported for the presentation of this rare disease in a Chinese population with the largest single report on familial cortical myoclonic tremor with epilepsy worldwide. Age-at-onset anticipation of cortical tremor with paternal transmission was statistically significant, which further confirmed a possibility of unstable expanding repeat in the genetic mechanism of familial cortical myoclonic tremor with epilepsy.

Original languageEnglish (US)
Pages (from-to)1704-1710
Number of pages7
JournalMovement Disorders
Volume31
Issue number11
DOIs
StatePublished - Nov 1 2016

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Tremor
Age of Onset
Somatosensory Evoked Potentials
Kaplan-Meier Estimate
Statistical Models
Pedigree
Survival Analysis
Rare Diseases
Anticonvulsants
Reflex
Epilepsy, Myoclonic, Benign Adult Familial, Type 1
Epilepsy
Seizures
Population

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

Cen, Z., Huang, C., Yin, H., Ding, X., Xie, F., Lu, X., ... Luo, W. (2016). Clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy. Movement Disorders, 31(11), 1704-1710. https://doi.org/10.1002/mds.26756

Clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy. / Cen, Zhidong; Huang, Chunping; Yin, Houmin; Ding, Xueping; Xie, Fei; Lu, Xingjiao; Ouyang, Zhiyuan; Lou, Yuting; Qiu, Xia; Wang, Zhongjin; Xiao, Jianfeng; Ding, Meiping; Luo, Wei.

In: Movement Disorders, Vol. 31, No. 11, 01.11.2016, p. 1704-1710.

Research output: Contribution to journalArticle

Cen, Z, Huang, C, Yin, H, Ding, X, Xie, F, Lu, X, Ouyang, Z, Lou, Y, Qiu, X, Wang, Z, Xiao, J, Ding, M & Luo, W 2016, 'Clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy', Movement Disorders, vol. 31, no. 11, pp. 1704-1710. https://doi.org/10.1002/mds.26756
Cen, Zhidong ; Huang, Chunping ; Yin, Houmin ; Ding, Xueping ; Xie, Fei ; Lu, Xingjiao ; Ouyang, Zhiyuan ; Lou, Yuting ; Qiu, Xia ; Wang, Zhongjin ; Xiao, Jianfeng ; Ding, Meiping ; Luo, Wei. / Clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy. In: Movement Disorders. 2016 ; Vol. 31, No. 11. pp. 1704-1710.
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abstract = "Objective: Familial cortical myoclonic tremor with epilepsy is a rare epilepsy syndrome. Herein, we report on nine Chinese familial cortical myoclonic tremor with epilepsy pedigrees to delineate its clinical and neurophysiological features. Methods: Detailed clinical and neurophysiological data were obtained. Somatosensory evoked potential amplitudes and clinical profile were analyzed using multilevel statistical models. Age-at-onset anticipation was analyzed using Kaplan-Meier survival analysis. Results: Fifty-five patients were interviewed directly, whose mean age at onset of cortical tremor and generalized tonic-clonic seizures were 31.0 ± 8.3 and 36.0 ± 7.9 years. Giant somatosensory evoked potential was detected in 87.5{\%} (28 of 32) of patients, and long-latency cortical reflex was detected in 93.5{\%} (29 of 31). Cortical tremor severity was significantly higher in patients with longer disease duration of cortical tremor (P = 0.0061). Somatosensory evoked potential amplitudes were significant higher in patients with higher level of cortical tremor severity (P = 0.0003) and those using antiepileptic drugs (P = 0.0150). Age-at-onset anticipation of cortical tremor with paternal transmission was found with statistical significance (P = 0.022). Conclusion: We provided the clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy patients. This study is reported for the presentation of this rare disease in a Chinese population with the largest single report on familial cortical myoclonic tremor with epilepsy worldwide. Age-at-onset anticipation of cortical tremor with paternal transmission was statistically significant, which further confirmed a possibility of unstable expanding repeat in the genetic mechanism of familial cortical myoclonic tremor with epilepsy.",
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AU - Cen, Zhidong

AU - Huang, Chunping

AU - Yin, Houmin

AU - Ding, Xueping

AU - Xie, Fei

AU - Lu, Xingjiao

AU - Ouyang, Zhiyuan

AU - Lou, Yuting

AU - Qiu, Xia

AU - Wang, Zhongjin

AU - Xiao, Jianfeng

AU - Ding, Meiping

AU - Luo, Wei

PY - 2016/11/1

Y1 - 2016/11/1

N2 - Objective: Familial cortical myoclonic tremor with epilepsy is a rare epilepsy syndrome. Herein, we report on nine Chinese familial cortical myoclonic tremor with epilepsy pedigrees to delineate its clinical and neurophysiological features. Methods: Detailed clinical and neurophysiological data were obtained. Somatosensory evoked potential amplitudes and clinical profile were analyzed using multilevel statistical models. Age-at-onset anticipation was analyzed using Kaplan-Meier survival analysis. Results: Fifty-five patients were interviewed directly, whose mean age at onset of cortical tremor and generalized tonic-clonic seizures were 31.0 ± 8.3 and 36.0 ± 7.9 years. Giant somatosensory evoked potential was detected in 87.5% (28 of 32) of patients, and long-latency cortical reflex was detected in 93.5% (29 of 31). Cortical tremor severity was significantly higher in patients with longer disease duration of cortical tremor (P = 0.0061). Somatosensory evoked potential amplitudes were significant higher in patients with higher level of cortical tremor severity (P = 0.0003) and those using antiepileptic drugs (P = 0.0150). Age-at-onset anticipation of cortical tremor with paternal transmission was found with statistical significance (P = 0.022). Conclusion: We provided the clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy patients. This study is reported for the presentation of this rare disease in a Chinese population with the largest single report on familial cortical myoclonic tremor with epilepsy worldwide. Age-at-onset anticipation of cortical tremor with paternal transmission was statistically significant, which further confirmed a possibility of unstable expanding repeat in the genetic mechanism of familial cortical myoclonic tremor with epilepsy.

AB - Objective: Familial cortical myoclonic tremor with epilepsy is a rare epilepsy syndrome. Herein, we report on nine Chinese familial cortical myoclonic tremor with epilepsy pedigrees to delineate its clinical and neurophysiological features. Methods: Detailed clinical and neurophysiological data were obtained. Somatosensory evoked potential amplitudes and clinical profile were analyzed using multilevel statistical models. Age-at-onset anticipation was analyzed using Kaplan-Meier survival analysis. Results: Fifty-five patients were interviewed directly, whose mean age at onset of cortical tremor and generalized tonic-clonic seizures were 31.0 ± 8.3 and 36.0 ± 7.9 years. Giant somatosensory evoked potential was detected in 87.5% (28 of 32) of patients, and long-latency cortical reflex was detected in 93.5% (29 of 31). Cortical tremor severity was significantly higher in patients with longer disease duration of cortical tremor (P = 0.0061). Somatosensory evoked potential amplitudes were significant higher in patients with higher level of cortical tremor severity (P = 0.0003) and those using antiepileptic drugs (P = 0.0150). Age-at-onset anticipation of cortical tremor with paternal transmission was found with statistical significance (P = 0.022). Conclusion: We provided the clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy patients. This study is reported for the presentation of this rare disease in a Chinese population with the largest single report on familial cortical myoclonic tremor with epilepsy worldwide. Age-at-onset anticipation of cortical tremor with paternal transmission was statistically significant, which further confirmed a possibility of unstable expanding repeat in the genetic mechanism of familial cortical myoclonic tremor with epilepsy.

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