Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy

被引：21
作者：
Striano, P
Madia, F
Minetti, C
Striano, S
Zara, F
机构：
[1] Univ Naples Federico II, Epilepsy Ctr, Dept Neurol Sci, Naples, Italy
[2] Univ Genoa, Neurogenet Lab, Dept Muscular & Neurodegenerat Dis, G Gaslini Inst, Genoa, Italy
[3] Galliera Hosp, Lab Human Genet, Genoa, Italy
来源：
EPILEPSIA | 2005年 / 46卷 / 12期
关键词：
cortical tremor; myoclonus; electrophysiological study; BAFME; linkage analysis;
D O I：
10.1111/j.1528-1167.2005.00346.x
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We report a five-generation family showing cortical tremor, myoclonus, and epilepsy, originating from Naples, Italy. Eleven members, aged 24-56 years (mean: 39.2 years), suffered from hand tremor and myoclonus, whereas generalized seizures occurred in six. Electrophysiological study confirmed the presence of cortical reflex myoclonus in all affected members. In addition, giant somatosensory-evoked potential components and enhanced long loop reflex I were found also in three presymptomatic members who manifested hand tremor and myoclonus at upper limbs after 1.5 years of follow-up. Genetic study of the pedigree revealed a significant linkage on chromosome 2p (maximum lod score = 5.9). Further observations are needed to clarify the pathophysiology of this condition. © 2005 International League Against Epilepsy.
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页码：1993 / 1995
页数：3
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