Rhythmic cortical myoclonus in Niemann-Pick disease type C

被引：19
作者：
Canafoglia, Laura
Bugiani, Marianna
Uziel, Graziella
Bernardina, Bernardo Dalla
Ciano, Claudia
Scaioli, Vidmer
Avanzini, Giuliano
Franceschetti, Silvana
Panzica, Ferruccio
机构：
[1] Ist Nazl Neurol Carlo Besta, Dept Neurophysiol & Epileptol, I-20133 Milan, Italy
[2] Ist Nazl Neurol Carlo Besta, Dept Child Neurol, I-20133 Milan, Italy
[3] Univ Verona, Dept Child Neurol, I-37100 Verona, Italy
来源：
MOVEMENT DISORDERS | 2006年 / 21卷 / 09期
关键词：
EEG-EMG coherence; PME; lipid storage; action myoclonus;
D O I：
10.1002/mds.20984
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We here describe a patient with late-infantile Niemann-Pick disease type C (NPC) presenting with worsening myoclonus, seizures, cerebellar symptoms, mild mental impairment, and gaze palsy. Electroencephalographic (EEG) -polymyographic examinations showed abnormally high and diffuse background alpha-activity, enhanced by intermittent photic stimulation. The electromyographic (EMG) showed quasirhythmic myoclonic jerks during motor activation. EEG-EMG frequency analysis (better than jerk-locked back-averaging) demonstrated the cortical origin of the myoclonus. Our observations indicate that cortical myoclonus may occur as the main symptom of NPC. (c) 2006 Movement Disorder Society.
引用
收藏
页码：1453 / 1456
页数：4
相关论文
共 13 条
[1]  
[Anonymous], 1990, Ann Neurol, V28, P113
[2]   PROGRESSIVE MYOCLONUS EPILEPSIES - CLINICAL AND NEUROPHYSIOLOGICAL DIAGNOSIS [J].
BERKOVIC, SF ;
SO, NK ;
ANDERMANN, F .
JOURNAL OF CLINICAL NEUROPHYSIOLOGY, 1991, 8 (03) :261-274
[3]   Coherent cortical and muscle discharge in cortical myoclonus [J].
Brown, P ;
Farmer, SF ;
Halliday, DM ;
Marsden, J ;
Rosenberg, JR .
BRAIN, 1999, 122 :461-472
[4]   Rhythmic cortical myoclonus in a case of HIV-related encephalopathy [J].
Canafoglia, L ;
Panzica, F ;
Franceschetti, S ;
Carriero, MR ;
Ciano, C ;
Scaioli, V ;
Chiapparini, L ;
Visani, E ;
Avanzini, G .
MOVEMENT DISORDERS, 2003, 18 (12) :1533-1538
[5]   Abnormal corticomuscular and intermuscular coupling in high-frequency rhythmic myoclonus [J].
Grosse, P ;
Guerrini, R ;
Parmeggiani, L ;
Bonanni, P ;
Pogosyan, A ;
Brown, P .
BRAIN, 2003, 126 :326-342
[6]   CORTICAL TREMOR - A VARIANT OF CORTICAL REFLEX MYOCLONUS [J].
IKEDA, A ;
KAKIGI, R ;
FUNAI, N ;
NESHIGE, R ;
KURODA, Y ;
SHIBASAKI, H .
NEUROLOGY, 1990, 40 (10) :1561-1565
[7]   MOVEMENT-ACTIVATED CENTRAL FAST RHYTHMS - EEG FINDING IN ACTION MYOCLONUS [J].
KELLY, JJ ;
SHARBROUGH, FW ;
WESTMORELAND, BF .
NEUROLOGY, 1978, 28 (10) :1037-1040
[8]  
KUNISHITA T, 1979, JPN J EXP MED, V49, P151
[9]   Alpha rhythms as physiological and abnormal phenomena [J].
Niedermeyer, E .
INTERNATIONAL JOURNAL OF PSYCHOPHYSIOLOGY, 1997, 26 (1-3) :31-49
[10]   Movement-activated myoclonus in genetically defined progressive myoclonic epilepsies: EEG-EMG relationship estimated using autoregressive models [J].
Panzica, F ;
Canafoglia, L ;
Franceschetti, S ;
Binelli, S ;
Ciano, C ;
Visani, E ;
Avanzini, G .
CLINICAL NEUROPHYSIOLOGY, 2003, 114 (06) :1041-1052
12