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7. Clinical and neurophysiological findings in connexinopathies
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Society Proceedings / Clinical Neurophysiology 120 (2009) e127–e132
4. Video-Electroencephalography–Polysomnography (VPSG)—N. Rajsic (Medical Military Academy, Belgrade, Serbia) Purpose: Both behavioral and EEG analyses are critical for characterizing epileptic seizures and for distinguishing them from parasomnia, other behaviour disturbances and loss of consciousness. Methods: Long term Video-EEG and videopolysomnography (VPSG) have been used in the Clinic of neurology of Medical military academy. Up to 24 EEG channels and up to 9 polygraphic channels were included into montages. Video monitoring was based on tape recorders with compressed frames. Diagnostic problems in patients with complex actions at night included epileptic seizures, NREM arousal disorders, REM sleep behavior disorder, rhythmic movement disorder, or psychiatric disorders (panic and dissociative disorders). Suspected nonepileptic seizures were also among important indications. Results: A total of 12 Video, Long term EEG and VPSG has been done since the October 2007 to Sept 2008: one patient had status epilepticus; two had frontal lobe epilepsy, five temporal lobe epilepsy, while single patients had narcolepsy, sleepwalking, behaviour problem and nonepileptic seizures. Conclusions: The movement artifacts frequently associated with nocturnal seizures obscures the EEG. EEG and PSG are superior to Video in the quiet patients, without muscle artifacts, whereas Video is much more valid in the presence of movements. These two methods are most valuable if used together. doi:10.1016/j.clinph.2008.12.008
5. Electroencephalographic abnormalities in patients with progressive myoclonic epilepsy of Lafora type—N. Jovic, P. Ignjatovic, M. Borkovic (Clinic of Neurology and Psychiatry for Children and Youth, Belgrade, Serbia) Lafora disease (LD) is inherited progressive myoclonic epilepsy with intractable myoclonus and seizures, inexorable neurological and cognitive deterioration and fatal prognosis as main characteristics. Two genes (EPM2A and EPM2B) are associated with LD. Patients and methods: Evolution of EEG abnormalities were studied in 19 patients with LD (5 male, 14 female) from 16 families of Serbian/Montenegrin origin. Seizure onset ranged from 10 to 15.5 years). Genetic analysis disclosed the cluster of 15 patients with mutations in EPM2B (NHLRC1) gene. Results: First seizure was related to the occipital lobe in 6, generalized tonic-clonic (GTCS) in 6, while sporadic myoclonus initially appeared in 7 patients. Initial EEG disclosed focal spike-wave activity in 9 patients. Use of antiepileptic drugs for focal seizures induced secondary GTCS or myoclonus along with bilateral paroxysms of poly/spike-waves (PSW) in 5 patients. Occurrence of myoclonus was followed by bilateral PSW discharges with various features. There was no preditive value of EEG for clinical course of LD. In three unaffected siblings from 3 families, homozigous for EPM2B gene mutation, EEG showed bilateral spike-wave discharges. Conclusions: Initial EEG examination at LD onset correlated with seizure type. Unaffected siblings, carriers for the LD gene mutation, had major EEG abnormalities. doi:10.1016/j.clinph.2008.12.009
6. Electroencephalographic findings in children with focal cortical dysplasia—N. Jovic (Clinic of Neurology and Psychiatry for Children and Youth, Belgrade, Serbia)
Focal cortical dysplasias (FCD) are often recognized as underlying lesion for epilepsy and focal neurological deficits. Patients and methods: A group of 35 children (16 male, 19 female), aged from 2 to 16.5 years (mean 8.4) with FCD verified by MRI was studied for EEG characteristics. Seizures occurred in 28 children. Results: In 7 of 35 children with FCD and without history of seizures, EEG disclosed normal findings (3), localized slow vawe abnormality (1) or focal spikes (3) correlated with location of the malformation. Distribution of seizure type in 29 (82.8%) patients with MCD showed focal motor (11), complex partial (7), secondarily generalized partial (5), generalized seizures (4) and epileptic spasms (3). Focal spike/spike-wave (12), irregular, bilateral SW paroxysms with focal onset (8) or localized slow-waves(3) were most often seen. Burst-suppression pattern was shown in two children with West syndrome with later evolution toward focal SW activity. In four patients with other epileptic encephalopathy, EEG pattern correlated with syndromic diagnosis. Laterality, location and MCD size correlated with EEG abnormalities in 62.1%. Conclusions: FCD are mainly associated with focal EEG patterns, while specific patterns mainly correlated with syndromic diagnosis. doi:10.1016/j.clinph.2008.12.010
7. Clinical and neurophysiological findings in connexinopathies— V. Milic Rasic 1, S. Todorovic 1, M. Keckarevic Markovic 2, J. Mladenovic 1 (1 Clinic for Pediatric Neurology, Belgrade, Serbia, 2 PCR center, Biological Faculty, Belgrade, Serbia) Aim: To present clinical and ENMG findings in patients with neuropathy and genetically proved mutation in connexin 32 gene (Cx32). Materials and methods: Diagnosisofhereditaryneuropathieswas based on clinical criteria and additional investigations. ENMG study to standard techniques on Premier (Medelec) apparatus. Genetic studies on connexinopathies were performed in PCR laboratory in Belgrade. Results: Sixteen patients (nine female and seven male) from 6 families. Clinical features were severe in all examined males and mild in all females except in one with clinical and EMNG severe axonal neuropathy (c. 478 T > C). In other examined patients, SNAP was not detectable in merely all tested median (4/7) and sural (6/7) nerves. CMAP was absent in 4/10 peroneal and 3/8 tibial nerves which belonged to males with exception of one case. MCV for median nerve ranged from 26.0 to 55.9 m/s. Most frequent mutation was c. 94 A > G; p. Arg32Gly, detected in 10 patients. Conclusion: We report on first connexinopathies diagnosed in Belgrade. We don’t know if most frequent mutation (Arg32Gly) is characteristic for our region. All patients with this mutation, and 5 of 6 with other mutations showed intermediary ENG pattern and gender influence on intensity of clinical and EMNG findings. doi:10.1016/j.clinph.2008.12.011
8. Electroneurographical finding in patients with essential tremor—Z. Peric´ (Department of Neurology, Clinical Centre of Niš, Niš, Serbia) Purpose: The characteristics of electroneurographical (ENG) findings in patients with essential tremor (ET) were compared with finding in healthy persons. Methods: In 32 patients with ET, 17 female and 15 male, average age 45.3 ± 9.7 years, the values of nervus medianus (NM) and nervus peroneus (NP) motor (MCV) and sensory (SCV) conduction velocities (in m/s) were determined, as well as values of NM and NP amplitude (in mV) and duration (in ms) of M-potentials. Control group (CG)
Society Proceedings / Clinical Neurophysiology 120 (2009) e127–e132
4. Video-Electroencephalography–Polysomnography (VPSG)—N. Rajsic (Medical Military Academy, Belgrade, Serbia) Purpose: Both behavioral and EEG analyses are critical for characterizing epileptic seizures and for distinguishing them from parasomnia, other behaviour disturbances and loss of consciousness. Methods: Long term Video-EEG and videopolysomnography (VPSG) have been used in the Clinic of neurology of Medical military academy. Up to 24 EEG channels and up to 9 polygraphic channels were included into montages. Video monitoring was based on tape recorders with compressed frames. Diagnostic problems in patients with complex actions at night included epileptic seizures, NREM arousal disorders, REM sleep behavior disorder, rhythmic movement disorder, or psychiatric disorders (panic and dissociative disorders). Suspected nonepileptic seizures were also among important indications. Results: A total of 12 Video, Long term EEG and VPSG has been done since the October 2007 to Sept 2008: one patient had status epilepticus; two had frontal lobe epilepsy, five temporal lobe epilepsy, while single patients had narcolepsy, sleepwalking, behaviour problem and nonepileptic seizures. Conclusions: The movement artifacts frequently associated with nocturnal seizures obscures the EEG. EEG and PSG are superior to Video in the quiet patients, without muscle artifacts, whereas Video is much more valid in the presence of movements. These two methods are most valuable if used together. doi:10.1016/j.clinph.2008.12.008
5. Electroencephalographic abnormalities in patients with progressive myoclonic epilepsy of Lafora type—N. Jovic, P. Ignjatovic, M. Borkovic (Clinic of Neurology and Psychiatry for Children and Youth, Belgrade, Serbia) Lafora disease (LD) is inherited progressive myoclonic epilepsy with intractable myoclonus and seizures, inexorable neurological and cognitive deterioration and fatal prognosis as main characteristics. Two genes (EPM2A and EPM2B) are associated with LD. Patients and methods: Evolution of EEG abnormalities were studied in 19 patients with LD (5 male, 14 female) from 16 families of Serbian/Montenegrin origin. Seizure onset ranged from 10 to 15.5 years). Genetic analysis disclosed the cluster of 15 patients with mutations in EPM2B (NHLRC1) gene. Results: First seizure was related to the occipital lobe in 6, generalized tonic-clonic (GTCS) in 6, while sporadic myoclonus initially appeared in 7 patients. Initial EEG disclosed focal spike-wave activity in 9 patients. Use of antiepileptic drugs for focal seizures induced secondary GTCS or myoclonus along with bilateral paroxysms of poly/spike-waves (PSW) in 5 patients. Occurrence of myoclonus was followed by bilateral PSW discharges with various features. There was no preditive value of EEG for clinical course of LD. In three unaffected siblings from 3 families, homozigous for EPM2B gene mutation, EEG showed bilateral spike-wave discharges. Conclusions: Initial EEG examination at LD onset correlated with seizure type. Unaffected siblings, carriers for the LD gene mutation, had major EEG abnormalities. doi:10.1016/j.clinph.2008.12.009
6. Electroencephalographic findings in children with focal cortical dysplasia—N. Jovic (Clinic of Neurology and Psychiatry for Children and Youth, Belgrade, Serbia)
Focal cortical dysplasias (FCD) are often recognized as underlying lesion for epilepsy and focal neurological deficits. Patients and methods: A group of 35 children (16 male, 19 female), aged from 2 to 16.5 years (mean 8.4) with FCD verified by MRI was studied for EEG characteristics. Seizures occurred in 28 children. Results: In 7 of 35 children with FCD and without history of seizures, EEG disclosed normal findings (3), localized slow vawe abnormality (1) or focal spikes (3) correlated with location of the malformation. Distribution of seizure type in 29 (82.8%) patients with MCD showed focal motor (11), complex partial (7), secondarily generalized partial (5), generalized seizures (4) and epileptic spasms (3). Focal spike/spike-wave (12), irregular, bilateral SW paroxysms with focal onset (8) or localized slow-waves(3) were most often seen. Burst-suppression pattern was shown in two children with West syndrome with later evolution toward focal SW activity. In four patients with other epileptic encephalopathy, EEG pattern correlated with syndromic diagnosis. Laterality, location and MCD size correlated with EEG abnormalities in 62.1%. Conclusions: FCD are mainly associated with focal EEG patterns, while specific patterns mainly correlated with syndromic diagnosis. doi:10.1016/j.clinph.2008.12.010
7. Clinical and neurophysiological findings in connexinopathies— V. Milic Rasic 1, S. Todorovic 1, M. Keckarevic Markovic 2, J. Mladenovic 1 (1 Clinic for Pediatric Neurology, Belgrade, Serbia, 2 PCR center, Biological Faculty, Belgrade, Serbia) Aim: To present clinical and ENMG findings in patients with neuropathy and genetically proved mutation in connexin 32 gene (Cx32). Materials and methods: Diagnosisofhereditaryneuropathieswas based on clinical criteria and additional investigations. ENMG study to standard techniques on Premier (Medelec) apparatus. Genetic studies on connexinopathies were performed in PCR laboratory in Belgrade. Results: Sixteen patients (nine female and seven male) from 6 families. Clinical features were severe in all examined males and mild in all females except in one with clinical and EMNG severe axonal neuropathy (c. 478 T > C). In other examined patients, SNAP was not detectable in merely all tested median (4/7) and sural (6/7) nerves. CMAP was absent in 4/10 peroneal and 3/8 tibial nerves which belonged to males with exception of one case. MCV for median nerve ranged from 26.0 to 55.9 m/s. Most frequent mutation was c. 94 A > G; p. Arg32Gly, detected in 10 patients. Conclusion: We report on first connexinopathies diagnosed in Belgrade. We don’t know if most frequent mutation (Arg32Gly) is characteristic for our region. All patients with this mutation, and 5 of 6 with other mutations showed intermediary ENG pattern and gender influence on intensity of clinical and EMNG findings. doi:10.1016/j.clinph.2008.12.011
8. Electroneurographical finding in patients with essential tremor—Z. Peric´ (Department of Neurology, Clinical Centre of Niš, Niš, Serbia) Purpose: The characteristics of electroneurographical (ENG) findings in patients with essential tremor (ET) were compared with finding in healthy persons. Methods: In 32 patients with ET, 17 female and 15 male, average age 45.3 ± 9.7 years, the values of nervus medianus (NM) and nervus peroneus (NP) motor (MCV) and sensory (SCV) conduction velocities (in m/s) were determined, as well as values of NM and NP amplitude (in mV) and duration (in ms) of M-potentials. Control group (CG)