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Electroclinical and Genetic Findings in a Family with Cortical Tremor, Myoclonus, and Epilepsy
Author(s) -
Striano Pasquale,
Madia Francesca,
Minetti Carlo,
Striano Salvatore,
Zara Federico
Publication year - 2005
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1167.2005.00346.x
Subject(s) - myoclonus , somatosensory evoked potential , epilepsy , somatosensory system , psychology , neurological disorder , neuroscience , central nervous system disease , movement disorders , reflex , progressive myoclonus epilepsy , medicine , audiology , disease
Summary:  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.

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