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Spinocerebellar ataxia: neurophysiological findings in two members of a family
Abstracts of the 5th Latin American Congress of Clinical Neurophysiology / Clinical Neurophysiology 119 (2008), S143–S177
P02.31 Q-EEG in a group of adult patients with cognitive impairment M. Colmenero 1 , R.A. Leyva 1,2 , M. Carrasco 3 , J. Ricardo 3 “Dr. Salvador Allende”, Ciudad de la Habana, Cuba; 2 Hospital Pedro Borrás Astorga, Ciudad de la Habana, Cuba; 3 Unidad de Neurodesarrollo, Juriquilla, México
1 Hospital
Objective: Demonstrate the effectiveness of the Quantitative EEG (QEEG) in the study of patient with Cognitive Impairment (CI) and to look for specific measures that allow a quick evaluation of these patients. Methods: 39 patients were studied (mean age 71.6 years) with different causes and grades of CI, according to Global Deterioration Scale (GDS). The EEG was recorded in 19 leads of the 10/20 system, at rest with eyes closed. Were analyzed the: Absolute (AP) and Relative (RP) Power: Alpha, Beta, Theta and Delta; and the Main Frequency (MF). All measures were compared with normative data. Results: The main observed alterations were increments of the RP Theta and Delta as well as modifications of the pattern of distribution of the RP Alpha that were in connection with the grade of AD. These abnormalities were not observed in cases with reactive depression. Conclusion: The Q-EEG is a useful tool in the evaluation of patient with CI, specifically through the analysis of the RP. Significance: It demonstrates the utility of certain variables of the Q-EEG in the evaluation of the CI.
P02.32 Video-electroencephalogram in neuropediatrics. Diagnosis utility L. Aguilar-Fabré 1 , R.M. Morgade-Fonte 2 , R. Rodríguez-Valdés 3 , M. Caraballo-Pupo 1 1 Neurophysiology Clinic Department, Pediatric Hospital Juan Manuel Márquez, Cuba; 2 Special School Paquito Rosales; 3 Neurophysiology Department, Neuroscience Center of Cuba Purpose: To evaluate the usefulness of video-EEG recording in pediatric patients with paroxysmal events. Methods: We analyzed the efficacy of this diagnostic tool during a year in 88 patients who visited the Neurophysiology Department. The sample was divided in three categories a) to confirm the diagnosis of epilepsy or the differentiation between epileptic and non epileptic events b) seizure classification c) quantifying the frequency of seizures. Results: Mean patient’s age was 5.6 years. The average study duration was 1.5 hours. Of 88 patients, 37 (42.05%) were admitted to confirm diagnosis of epilepsy, 38 (43.18%) for seizure classification and 13 (14.77%) for quantifying the frequency of seizures. Seizures were recorded in 57.95 % of patients. Interictal EEG showed epileptiform discharges in 82.34 %. In 28 % and 46.15% the initial diagnosed and management respectively were alterated as a result of the video-EEG. Conclusions: These results demonstrate that the video-EEG has a high yield in changing diagnosis and management. Video-EEG monitoring must be included as a usual study of diagnosis in a neurophysiology unit and this technique should be considered as a first diagnostic step in children with frequent paroxysmal events. Relevance: The video-EEG monitoring is a key when the diagnosis of epileptic disorders is suspected. A careful diagnosis is needed because of the specific treatment they require.
P02.33 Electroencephalographic response to tactile stimulus during stage 1 of sleep, a probably activation of the thalamus F.J. Islas-Jácome 1,2 , D.B. Oropeza-Canto 1 , M. Velázquez-Vaquero 1 Unidad de Neurología y Neurofisiología Especializada (UNNE); 2 Instituto de Fisiología BUAP, Puebla, México
1
Objective: To describe the changes on EEG as response to a tactile stimulus in patients that have fallen in stage 1 of sleep, measuring frequency and amplitude of the waves. Methods: Using the digital electroencephalograph Easy II (Cadwell Laboratories Inc.) and its software, we got 100 electroencephalographic records in which have been marked the tactile stimulus when the patients have fallen
S175
in stage 1 of sleep; we measure the frequency before and after the stimulus. We defined the stage 1 of sleep as the gradual loss of alpha rhythm and we discarded records with significant bioelectric artifacts. Results: We observed changes in the electroencephalographic activity, in frequency and voltage, more notably the amplitude change in the derivations Cz, Fz y Pz. We observed a change reached 60% in the derivations when we used a transversal montage. Conclusions: The area in which we saw the response and the morphology keep a similarity to K complex, which could tell us that the response came from subcortical structures. Significance: The tactile stimulus could be included in the activation mechanisms when subcortical structures are involved in the pathology. Keywords: Electroencephalography; Activation mechanisms
P02.35 Clinical-electroencephalographic characterization of neonatal seizures Y. Expósito Fernández Departamento de Neurofisiología Clínica Hospital América Arias, Ciudad de La Habana, Cuba Objective: To establish the incidence of clinical neonatal seizure types and their correlation with EEG findings. Methods: Retrospective study of admitted 35 newborns with the diagnosis of neonatal seizures, during the period 2004 -2007. Some of variables collected were clinical pattern, duration of the convulsions, critical and intercritical EEG traces, EEG background, etiological diagnosis, treatment and clinical responses, evolution and neurological state at hospital discharge and at 1 year of age. Results: 35 children were admitted with neonatal seizures, of these only 28 EEG convulsions were confirmed. Hypoxic Isquemic Encephalopathy was the most frequent etiology. The same generalized tonic seizure 45,3 %. Multifocal discharges and EEG background moderately and markedly abnormalities were associated unfavourable outcome. With the antiepileptic treatment the clinical control was obtained in 85 only 65 the clinic and electroencephalographic evolution was unfavorable. Conclusions: We demonstrated the utility of EEG to confirm neonatal seizures and the importance to register epileptic activity before and after treatment of anticonvulsive medication. Significance: Undetected and untreated seizure activity increases the insult to the neonatal brain. Keywords: Newborn; Neonatal seizures; Electroencephalography; Outcome
P02.36 Spinocerebellar ataxia: neurophysiological findings in two members of a family R. Avendaño-Venegas Clínica del Centro Médico ABC, México, DF, Mexico Introduction. The spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative inherited diseases with progressive ataxia accompanied by alterations in other parts of the nervous system. Up to now, almost 30 gene loci have been found. The more common SCAs, SCA 1, 2, 3 and 6 are due to translate CAG repeat expansions that code for an polyglutamine. The epidemiological studies made in different European regions found frequencies and prevalence of SCAs ranging from 0,9 to 3.0:100,000. Objective. To determine the neurophysiological findings in two sisters with neurological clinical diagnosis of spinocerebellar ataxia. Methods. We made video-electroencephalography recordings, polysomnographic recording, electrooculography, multimodal evoked potentials, motor and sensory nerve conduction studies, needle electromyography (EMG) of two sisters with neurological clinical diagnosis of spinocerebellar ataxia. Results. In both patients were determined significant findings in multimodal evoked potential studies, electrooculography and sensory nerve conduction studies, weren’t significant findings in the studies of motor nerve conduction studies, needle EMG, video-electroencefalography and polysomnographic recordings. Discussion. In both cases were significant changes in the neurophysiolog-
S176
Abstracts of the 5th Latin American Congress of Clinical Neurophysiology / Clinical Neurophysiology 119 (2008), S143–S177
ical studies that evaluated as the central nervous system as peripheral nervous system. Significance: The alterations in the neurophysiological studies in patients with SCA affect different parts of the nervous system and is necessary to make integral neurophysiological evaluation in patients with clinical suspicion of SCA and of this way to determine some subclinical cases, in others to determine the genotype, also some findings can be used like progression markers and in case of related findings to disturbances associated to the same disease offer opportune treatment and this way to improve the quality of life in these patients. Keywords: Spinocerebellar ataxia; Neurophysiological
P02.37 Auditory steady state responses in screening G. Savio, M.C. Pérez-Abalo, J. Gaya, O. Hernandez, E. Mijares Cuban Neuroscience Center, Havana, Cuba Objective: The test accuracy and prognostic validity of Multiple Auditory Steady State Responses (MSSR) and click Auditory Brainstem Responses (cABR) was compared within the context of a targeted screening protocol. Methods: A sample of 508 high risk babies was first screened using cABR and MSSR (0.5 and 2 KHz). All children were called back at 3-4 years of age to determine their hearing status (pure tone audiometry). Results: Although both methods showed an equally good test performance in the first screen (sensitivity: 100%, and specificity: 92-95%) the MSSR may have some potential advantage to identify low frequency hearing loss. Furthermore, the confirmatory audiometry with MSSR predicted the child hearing status more accurately than the cABR. Conclusions: The MSSR can provide valuable information for the diagnosis and management of infants earlier detected by a screening protocol and further developed might be also useful as a screening test. Significance: Comprehensive screening programs must be organized, ensuring not only early detection, but also diagnosis, treatment and intervention of the hearing impaired child. The auditory steady state evoked responses (ASSR) elicited by single or multiple modulated tones have been demonstrated a useful technique for objective frequency specific audiometry in infancy. Keywords: MSSR; Screening; cABR.
P02.38 Clinical and electroencephalographic abnormalities induced by cyclosporine A in a liver transplant child: case report M. Prieto Escobio Clínica del Centro Médico ABC, México, DF, Mexico Summary: We report EEG abnormalities present in an 8 year old boy who had received Cyclosporine A after a liver transplant. He presented with altered mental status, headache and visual disturbances. EEG frequencies were diffusely slowed and there were repeated episodes of focal occipital low frequency spikes. An MRI revealed high signal intensity areas over the posterior brain regions. EEG changes disappeared as the clinical condition improved. EEG proved to be an asset in the study of altered mental status which closely corresponds to clinical state. We are aware that EEG is a reflection of function and does not disclose the etiology of the problem. Keywords: Electroencephalography; Cyclosporin A; Liver transplant
P02.39 Usefulness of polysomnography and videomonitorization in patients with learning disabilities A. Stokes, H. Stokes Departamento de Neurologia, Guatemala Objective: Determine usefulness of polysomnography and video-monitorization in patients with learning problems. Methods: We present five cases of children with learning disabilities ages from 6 to 9 years that consulted, with a history of aggressiveness, reading disabilities, impulsivity, hyperactivity and poor school performance. There were no history of previous nor present specific neurological disorders.
Polysomnography and EEG-Videomonitorization was performed during the night. Results: We found in two patients: left frontal discharge in stage II of sleep, another patient had a focal right parietal focus and in the other two the abnormality was on the left medial temporal region. Due to the electrical findings, the patients were placed on Valproate for a period of 3 months. There were reports of significant improvements in school performance. Significance: When evaluation of children with learning problems in several of the learning domains it is important to consider the possibility of the occurrence of a subclinical paroxysmal disorder that could be interfering with the learning process. Polysomnography and EEG-Videmonitorization are the tests of choice. Keywords: Learning disabilities; Epilepsy; Polysomnography; EEGvideomonitorization; Treatment, Improvement of learning
P02.40 Saccadic movements in SCA2. From disorders to electrophysiological biomarkers for genetic and clinical research R. Rodríguez Labrada 1 , L. Velázquez Pérez 1 , C. Siegfried 2 , U. Ziemann 2 , G. Sánchez Cruz 1 , N. Canales Ochoa 1 , G. Auburger 2 1 Centro para la Investigación y Rehabilitación de Ataxias Hereditarias, Holguín, Cuba; 2 Clinic for Neurology, University Hospital, Frankfurt am Main, Germany Objective Evaluate the saccadic abnormalities as objective biomarkers of clinic-genetics features of SCA2 and its utility for therapies evaluation. Methods: 107 SCA2 patients, 53 presymptomatics and 110 controls were studied by electronystagmography to evaluate the maximal saccade velocity (MSV), latency and deviation. For a longitudinal study, 50 SCA2 patients and controls were followed during six years. Results: SCA2 patients showed significant reduction MSV, prolonged latencies and hypometric saccades. Saccadic slowing was also observed in presymptomatics. MSV was negatively correlated with the polyglutamine expansion in both groups. In SCA2 patients, all saccadic abnormalities were significantly accented along time, fundamentally the saccadic slowing and hypometria. Conclusions: MSV is the most important electrophysiological research tool to study the genetic determinants of SCA2. The progression patterns of saccade slowing and hypometria appear to be objective biomarkers that reflect the severity of neurodegenerative process in the brainstem and cerebellum. Significance: This is the first electronystagmographical study carried out in a large population of SCA2 patients and presymptomatics. Also, is the first longitudinal study of saccadic abnormalities in SCA2. We identify the MSV as the most important endophenotype for SCA2 and new objectives parameters for the evaluation of therapies. Keywords: SCA2; Saccades; Saccadic slowing; Biomarkers
P02.41 EEG developmental lag in infants with iron deficiency anemia: a brain mapping study G.A. Otero, F.B. Pliego Rivero, M.R. Porcayo Universidad Autónoma Del Estado De México, Facultad de Medicina, Laboratorios de Neurofisiología y Neuroquímica Objective: The main objective of this work was to evaluate the impact of iron deficiency anemia (IDA) on CNS development. Methods: Fifty IDA infants (3-15 months) presenting ferropenic anemia were gathered from the external practice of three public hospitals in Toluca City, Mexico (hemoglobin <11.4 g/dL; Fe <50 µg/dL). Their qEEG was studied. and documented at stage II, quiet sleep, and broad band spectral parameters calculated: delta (1.5-3.5 Hz), theta (4-7.5Hz), alpha (8-12.5 Hz), beta (13-19Hz) and total (1.5-19 Hz) from the voltage reference montage, the Laplacian and Average reference montages were determined. From the broad band spectral parameter values and their Z transform, interpolated maps were obtained and compared to previously constructed and validated norms for each age (0-15 months) and gender. Results: Psychomotor deficiencies under IDA were corroborated. qEEG brain maps showed delta and theta bands showing 2 and 3 SD above the norm in 32% IDA cases pointing at a delay in CNS maturation.
P02.31 Q-EEG in a group of adult patients with cognitive impairment M. Colmenero 1 , R.A. Leyva 1,2 , M. Carrasco 3 , J. Ricardo 3 “Dr. Salvador Allende”, Ciudad de la Habana, Cuba; 2 Hospital Pedro Borrás Astorga, Ciudad de la Habana, Cuba; 3 Unidad de Neurodesarrollo, Juriquilla, México
1 Hospital
Objective: Demonstrate the effectiveness of the Quantitative EEG (QEEG) in the study of patient with Cognitive Impairment (CI) and to look for specific measures that allow a quick evaluation of these patients. Methods: 39 patients were studied (mean age 71.6 years) with different causes and grades of CI, according to Global Deterioration Scale (GDS). The EEG was recorded in 19 leads of the 10/20 system, at rest with eyes closed. Were analyzed the: Absolute (AP) and Relative (RP) Power: Alpha, Beta, Theta and Delta; and the Main Frequency (MF). All measures were compared with normative data. Results: The main observed alterations were increments of the RP Theta and Delta as well as modifications of the pattern of distribution of the RP Alpha that were in connection with the grade of AD. These abnormalities were not observed in cases with reactive depression. Conclusion: The Q-EEG is a useful tool in the evaluation of patient with CI, specifically through the analysis of the RP. Significance: It demonstrates the utility of certain variables of the Q-EEG in the evaluation of the CI.
P02.32 Video-electroencephalogram in neuropediatrics. Diagnosis utility L. Aguilar-Fabré 1 , R.M. Morgade-Fonte 2 , R. Rodríguez-Valdés 3 , M. Caraballo-Pupo 1 1 Neurophysiology Clinic Department, Pediatric Hospital Juan Manuel Márquez, Cuba; 2 Special School Paquito Rosales; 3 Neurophysiology Department, Neuroscience Center of Cuba Purpose: To evaluate the usefulness of video-EEG recording in pediatric patients with paroxysmal events. Methods: We analyzed the efficacy of this diagnostic tool during a year in 88 patients who visited the Neurophysiology Department. The sample was divided in three categories a) to confirm the diagnosis of epilepsy or the differentiation between epileptic and non epileptic events b) seizure classification c) quantifying the frequency of seizures. Results: Mean patient’s age was 5.6 years. The average study duration was 1.5 hours. Of 88 patients, 37 (42.05%) were admitted to confirm diagnosis of epilepsy, 38 (43.18%) for seizure classification and 13 (14.77%) for quantifying the frequency of seizures. Seizures were recorded in 57.95 % of patients. Interictal EEG showed epileptiform discharges in 82.34 %. In 28 % and 46.15% the initial diagnosed and management respectively were alterated as a result of the video-EEG. Conclusions: These results demonstrate that the video-EEG has a high yield in changing diagnosis and management. Video-EEG monitoring must be included as a usual study of diagnosis in a neurophysiology unit and this technique should be considered as a first diagnostic step in children with frequent paroxysmal events. Relevance: The video-EEG monitoring is a key when the diagnosis of epileptic disorders is suspected. A careful diagnosis is needed because of the specific treatment they require.
P02.33 Electroencephalographic response to tactile stimulus during stage 1 of sleep, a probably activation of the thalamus F.J. Islas-Jácome 1,2 , D.B. Oropeza-Canto 1 , M. Velázquez-Vaquero 1 Unidad de Neurología y Neurofisiología Especializada (UNNE); 2 Instituto de Fisiología BUAP, Puebla, México
1
Objective: To describe the changes on EEG as response to a tactile stimulus in patients that have fallen in stage 1 of sleep, measuring frequency and amplitude of the waves. Methods: Using the digital electroencephalograph Easy II (Cadwell Laboratories Inc.) and its software, we got 100 electroencephalographic records in which have been marked the tactile stimulus when the patients have fallen
S175
in stage 1 of sleep; we measure the frequency before and after the stimulus. We defined the stage 1 of sleep as the gradual loss of alpha rhythm and we discarded records with significant bioelectric artifacts. Results: We observed changes in the electroencephalographic activity, in frequency and voltage, more notably the amplitude change in the derivations Cz, Fz y Pz. We observed a change reached 60% in the derivations when we used a transversal montage. Conclusions: The area in which we saw the response and the morphology keep a similarity to K complex, which could tell us that the response came from subcortical structures. Significance: The tactile stimulus could be included in the activation mechanisms when subcortical structures are involved in the pathology. Keywords: Electroencephalography; Activation mechanisms
P02.35 Clinical-electroencephalographic characterization of neonatal seizures Y. Expósito Fernández Departamento de Neurofisiología Clínica Hospital América Arias, Ciudad de La Habana, Cuba Objective: To establish the incidence of clinical neonatal seizure types and their correlation with EEG findings. Methods: Retrospective study of admitted 35 newborns with the diagnosis of neonatal seizures, during the period 2004 -2007. Some of variables collected were clinical pattern, duration of the convulsions, critical and intercritical EEG traces, EEG background, etiological diagnosis, treatment and clinical responses, evolution and neurological state at hospital discharge and at 1 year of age. Results: 35 children were admitted with neonatal seizures, of these only 28 EEG convulsions were confirmed. Hypoxic Isquemic Encephalopathy was the most frequent etiology. The same generalized tonic seizure 45,3 %. Multifocal discharges and EEG background moderately and markedly abnormalities were associated unfavourable outcome. With the antiepileptic treatment the clinical control was obtained in 85 only 65 the clinic and electroencephalographic evolution was unfavorable. Conclusions: We demonstrated the utility of EEG to confirm neonatal seizures and the importance to register epileptic activity before and after treatment of anticonvulsive medication. Significance: Undetected and untreated seizure activity increases the insult to the neonatal brain. Keywords: Newborn; Neonatal seizures; Electroencephalography; Outcome
P02.36 Spinocerebellar ataxia: neurophysiological findings in two members of a family R. Avendaño-Venegas Clínica del Centro Médico ABC, México, DF, Mexico Introduction. The spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative inherited diseases with progressive ataxia accompanied by alterations in other parts of the nervous system. Up to now, almost 30 gene loci have been found. The more common SCAs, SCA 1, 2, 3 and 6 are due to translate CAG repeat expansions that code for an polyglutamine. The epidemiological studies made in different European regions found frequencies and prevalence of SCAs ranging from 0,9 to 3.0:100,000. Objective. To determine the neurophysiological findings in two sisters with neurological clinical diagnosis of spinocerebellar ataxia. Methods. We made video-electroencephalography recordings, polysomnographic recording, electrooculography, multimodal evoked potentials, motor and sensory nerve conduction studies, needle electromyography (EMG) of two sisters with neurological clinical diagnosis of spinocerebellar ataxia. Results. In both patients were determined significant findings in multimodal evoked potential studies, electrooculography and sensory nerve conduction studies, weren’t significant findings in the studies of motor nerve conduction studies, needle EMG, video-electroencefalography and polysomnographic recordings. Discussion. In both cases were significant changes in the neurophysiolog-
S176
Abstracts of the 5th Latin American Congress of Clinical Neurophysiology / Clinical Neurophysiology 119 (2008), S143–S177
ical studies that evaluated as the central nervous system as peripheral nervous system. Significance: The alterations in the neurophysiological studies in patients with SCA affect different parts of the nervous system and is necessary to make integral neurophysiological evaluation in patients with clinical suspicion of SCA and of this way to determine some subclinical cases, in others to determine the genotype, also some findings can be used like progression markers and in case of related findings to disturbances associated to the same disease offer opportune treatment and this way to improve the quality of life in these patients. Keywords: Spinocerebellar ataxia; Neurophysiological
P02.37 Auditory steady state responses in screening G. Savio, M.C. Pérez-Abalo, J. Gaya, O. Hernandez, E. Mijares Cuban Neuroscience Center, Havana, Cuba Objective: The test accuracy and prognostic validity of Multiple Auditory Steady State Responses (MSSR) and click Auditory Brainstem Responses (cABR) was compared within the context of a targeted screening protocol. Methods: A sample of 508 high risk babies was first screened using cABR and MSSR (0.5 and 2 KHz). All children were called back at 3-4 years of age to determine their hearing status (pure tone audiometry). Results: Although both methods showed an equally good test performance in the first screen (sensitivity: 100%, and specificity: 92-95%) the MSSR may have some potential advantage to identify low frequency hearing loss. Furthermore, the confirmatory audiometry with MSSR predicted the child hearing status more accurately than the cABR. Conclusions: The MSSR can provide valuable information for the diagnosis and management of infants earlier detected by a screening protocol and further developed might be also useful as a screening test. Significance: Comprehensive screening programs must be organized, ensuring not only early detection, but also diagnosis, treatment and intervention of the hearing impaired child. The auditory steady state evoked responses (ASSR) elicited by single or multiple modulated tones have been demonstrated a useful technique for objective frequency specific audiometry in infancy. Keywords: MSSR; Screening; cABR.
P02.38 Clinical and electroencephalographic abnormalities induced by cyclosporine A in a liver transplant child: case report M. Prieto Escobio Clínica del Centro Médico ABC, México, DF, Mexico Summary: We report EEG abnormalities present in an 8 year old boy who had received Cyclosporine A after a liver transplant. He presented with altered mental status, headache and visual disturbances. EEG frequencies were diffusely slowed and there were repeated episodes of focal occipital low frequency spikes. An MRI revealed high signal intensity areas over the posterior brain regions. EEG changes disappeared as the clinical condition improved. EEG proved to be an asset in the study of altered mental status which closely corresponds to clinical state. We are aware that EEG is a reflection of function and does not disclose the etiology of the problem. Keywords: Electroencephalography; Cyclosporin A; Liver transplant
P02.39 Usefulness of polysomnography and videomonitorization in patients with learning disabilities A. Stokes, H. Stokes Departamento de Neurologia, Guatemala Objective: Determine usefulness of polysomnography and video-monitorization in patients with learning problems. Methods: We present five cases of children with learning disabilities ages from 6 to 9 years that consulted, with a history of aggressiveness, reading disabilities, impulsivity, hyperactivity and poor school performance. There were no history of previous nor present specific neurological disorders.
Polysomnography and EEG-Videomonitorization was performed during the night. Results: We found in two patients: left frontal discharge in stage II of sleep, another patient had a focal right parietal focus and in the other two the abnormality was on the left medial temporal region. Due to the electrical findings, the patients were placed on Valproate for a period of 3 months. There were reports of significant improvements in school performance. Significance: When evaluation of children with learning problems in several of the learning domains it is important to consider the possibility of the occurrence of a subclinical paroxysmal disorder that could be interfering with the learning process. Polysomnography and EEG-Videmonitorization are the tests of choice. Keywords: Learning disabilities; Epilepsy; Polysomnography; EEGvideomonitorization; Treatment, Improvement of learning
P02.40 Saccadic movements in SCA2. From disorders to electrophysiological biomarkers for genetic and clinical research R. Rodríguez Labrada 1 , L. Velázquez Pérez 1 , C. Siegfried 2 , U. Ziemann 2 , G. Sánchez Cruz 1 , N. Canales Ochoa 1 , G. Auburger 2 1 Centro para la Investigación y Rehabilitación de Ataxias Hereditarias, Holguín, Cuba; 2 Clinic for Neurology, University Hospital, Frankfurt am Main, Germany Objective Evaluate the saccadic abnormalities as objective biomarkers of clinic-genetics features of SCA2 and its utility for therapies evaluation. Methods: 107 SCA2 patients, 53 presymptomatics and 110 controls were studied by electronystagmography to evaluate the maximal saccade velocity (MSV), latency and deviation. For a longitudinal study, 50 SCA2 patients and controls were followed during six years. Results: SCA2 patients showed significant reduction MSV, prolonged latencies and hypometric saccades. Saccadic slowing was also observed in presymptomatics. MSV was negatively correlated with the polyglutamine expansion in both groups. In SCA2 patients, all saccadic abnormalities were significantly accented along time, fundamentally the saccadic slowing and hypometria. Conclusions: MSV is the most important electrophysiological research tool to study the genetic determinants of SCA2. The progression patterns of saccade slowing and hypometria appear to be objective biomarkers that reflect the severity of neurodegenerative process in the brainstem and cerebellum. Significance: This is the first electronystagmographical study carried out in a large population of SCA2 patients and presymptomatics. Also, is the first longitudinal study of saccadic abnormalities in SCA2. We identify the MSV as the most important endophenotype for SCA2 and new objectives parameters for the evaluation of therapies. Keywords: SCA2; Saccades; Saccadic slowing; Biomarkers
P02.41 EEG developmental lag in infants with iron deficiency anemia: a brain mapping study G.A. Otero, F.B. Pliego Rivero, M.R. Porcayo Universidad Autónoma Del Estado De México, Facultad de Medicina, Laboratorios de Neurofisiología y Neuroquímica Objective: The main objective of this work was to evaluate the impact of iron deficiency anemia (IDA) on CNS development. Methods: Fifty IDA infants (3-15 months) presenting ferropenic anemia were gathered from the external practice of three public hospitals in Toluca City, Mexico (hemoglobin <11.4 g/dL; Fe <50 µg/dL). Their qEEG was studied. and documented at stage II, quiet sleep, and broad band spectral parameters calculated: delta (1.5-3.5 Hz), theta (4-7.5Hz), alpha (8-12.5 Hz), beta (13-19Hz) and total (1.5-19 Hz) from the voltage reference montage, the Laplacian and Average reference montages were determined. From the broad band spectral parameter values and their Z transform, interpolated maps were obtained and compared to previously constructed and validated norms for each age (0-15 months) and gender. Results: Psychomotor deficiencies under IDA were corroborated. qEEG brain maps showed delta and theta bands showing 2 and 3 SD above the norm in 32% IDA cases pointing at a delay in CNS maturation.