24 results on '"G. Ortega Suero"'
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2. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study
- Author
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G. Ortega Suero, M.J. Abenza Abildúa, C. Serrano Munuera, I. Rouco Axpe, F.J. Arpa Gutiérrez, A.D. Adarmes Gómez, F.J. Rodríguez de Rivera, B. Quintans Castro, I. Posada Rodríguez, A. Vadillo Bermejo, Á. Domingo Santos, E. Blanco Vicente, I. Infante Ceberio, J. Pardo Fernández, E. Costa Arpín, C. Painous Martí, J.E. Muñoz García, P. Mir Rivera, F. Montón Álvarez, L. Bataller Alberola, J. Gascón Bayarri, C. Casasnovas Pons, V. Vélez Santamaría, A. López de Munain, G. Fernández-Eulate, J. Gazulla Abío, I. Sanz Gallego, L. Rojas Bartolomé, Ó. Ayo Martín, T. Segura Martín, C. González Mingot, M. Baraldés Rovira, R. Sivera Mascaró, E. Cubo Delgado, A. Echavarría Íñiguez, F. Vázquez Sánchez, M. Bártulos Iglesias, M.T. Casadevall Codina, E.M. Martínez Fernández, C. Labandeira Guerra, B. Alemany Perna, A. Carvajal Hernández, C. Fernández Moreno, M. Palacín Larroy, N. Caballol Pons, A. Ávila Rivera, F.J. Navacerrada Barrero, R. Lobato Rodríguez, and M.J. Sobrido Gómez
- Subjects
Mapa genético ,Ataxias ,Paraparesias espásticas hereditarias ,Epidemiología ,Genética ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Introduction: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. Patients and methods: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. Results: We gathered data from a total of 1933 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 938 patients were men (48.5%) and 995 were women (51.5%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. Conclusions: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials. Resumen: Introducción: Las ataxias (AT) y paraparesias espásticas hereditarias (PEH) son síndromes neurodegenerativos raros. Nos proponemos conocer la prevalencia de las AT y PEH (APEH) en España en 2019. Pacientes y métodos: Estudio transversal, multicéntrico, descriptivo y retrospectivo de los pacientes con AT y PEH, desde Marzo de 2018 a Diciembre de 2019 en toda España. Resultados: Se obtuvo información de 1.933 pacientes procedentes de 11 Comunidades Autónomas, de 47 neurólogos o genetistas. Edad media: 53,64 años ± 20,51 desviación estándar (DE); 938 varones (48,5%), 995 mujeres (51,1%). En 920 pacientes (47,6%) no se conoce el defecto genético. Por patologías, 1.371 pacientes (70,9%) diagnosticados de AT, 562 diagnosticados de PEH (29,1%). La prevalencia estimada de AT es 5,48/100.000 habitantes, y la de PEH es 2,24 casos/100.000 habitantes. La AT dominante más frecuente es la SCA3. La AT recesiva más frecuente es la ataxia de Friedreich (FRDA). La PEH dominante más frecuente es la SPG4, y la PEH recesiva más frecuente es la SPG7. Conclusiones: La prevalencia estimada de APEH en nuestra serie es de 7,73 casos/100.000 habitantes. Estas frecuencias son similares a las del resto del mundo. En el 47,6% no se ha conseguido un diagnóstico genético. A pesar de las limitaciones, este estudio puede contribuir a estimar los recursos, visibilizar estas enfermedades, detectar las mutaciones más frecuentes para hacer los screenings por comunidades, y favorecer los ensayos clínicos.
- Published
- 2023
- Full Text
- View/download PDF
3. Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España
- Author
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G. Ortega Suero, M.J. Abenza Abildúa, C. Serrano Munuera, I. Rouco Axpe, F.J. Arpa Gutiérrez, A.D. Adarmes Gómez, F.J. Rodríguez de Rivera, B. Quintans Castro, I. Posada Rodríguez, A. Vadillo Bermejo, Á. Domingo Santos, E. Blanco Vicente, I. Infante Ceberio, J. Pardo Fernández, E. Costa Arpín, C. Painous Martí, J.E. Muñoz, P. Mir Rivera, F. Montón Álvarez, L. Bataller Alberola, J. Gascón Bayarri, C. Casasnovas Pons, V. Vélez Santamaría, A. López de Munain, G. Fernández-Eulate, J. Gazulla Abío, I. Sanz Gallego, L. Rojas Bartolomé, Ó. Ayo Martín, T. Segura Martín, C. González Mingot, M. Baraldés Rovira, R. Sivera Mascaró, E. Cubo Delgado, A. Echavarría Íñiguez, F. Vázquez Sánchez, M. Bártulos Iglesias, M.T. Casadevall Codina, E.M. Martínez Fernández, C. Labandeira Guerra, B. Alemany Perna, A. Carvajal Hernández, C. Fernández Moreno, M. Palacín Larroy, N. Caballol Pons, A. Ávila Rivera, F.J. Navacerrada Barrero, R. Lobato Rodríguez, and M.J. Sobrido Gómez
- Subjects
Genetic map ,Ataxia ,Hereditary spastic paraplegia ,Epidemiology ,Genetics ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Resume: Introducción: Las ataxias (AT) y paraparesias espásticas hereditarias (PEH) son síndromes neurodegenerativos raros. Nos proponemos conocer la prevalencia de las AT y PEH en España en 2019. Pacientes y métodos: Estudio transversal, multicéntrico, descriptivo y retrospectivo de los pacientes con AT y PEH, desde marzo de 2018 a diciembre de 2019 en toda España. Resultados: Se obtuvo información de 1933 pacientes procedentes de 11 Comunidades Autónomas, de 47 neurólogos o genetistas. Edad media: 53,64 años ± 20,51 desviación estándar (DE); 938 varones (48,5%), 995 mujeres (51,5%). En 920 pacientes (47,6%) no se conoce el defecto genético. Por patologías, 1.371 pacientes (70,9%) diagnosticados de AT, 562 diagnosticados de PEH (29,1%). La prevalencia estimada de AT es 5,48/100.000 habitantes, y la de PEH es 2,24 casos/100.000 habitantes. La AT dominante más frecuente es la SCA3. La AT recesiva más frecuente es la ataxia de Friedreich (FRDA). La PEH dominante más frecuente es la SPG4, y la PEH recesiva más frecuente es la SPG7. Conclusiones: La prevalencia estimada de AT y PEH en nuestra serie es de 7,73 casos/100.000 habitantes. Estas frecuencias son similares a las del resto del mundo. En el 47,6% no se ha conseguido un diagnóstico genético. A pesar de las limitaciones, este estudio puede contribuir a estimar los recursos, visibilizar estas enfermedades, detectar las mutaciones más frecuentes para hacer los screenings por comunidades, y favorecer los ensayos clínicos. Abstract: Introduction: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. Patients and methods: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. Results: We gathered data from a total of 1933 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 938 patients were men (48.5%) and 995 were women (51.5%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. Conclusions: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials.
- Published
- 2023
- Full Text
- View/download PDF
4. Anti-Ma and anti-Ma2-associated paraneoplastic neurological syndromes
- Author
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G. Ortega Suero, N. Sola-Valls, D. Escudero, A. Saiz, and F. Graus
- Subjects
Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Objective: Analyse the clinical profile, associated tumour types, and response to treatment of paraneoplastic neurological syndromes associated with antibodies against Ma proteins. Methods: A retrospective study of patients with antibodies against Ma proteins identified in a neuroimmunology laboratory of reference. Results: Of the 32 patients identified, 20 showed reactivity against Ma2 only (anti-Ma2 antibodies), 11 against Ma1 and Ma2 (anti-Ma antibodies), and 1 with reactivity against Ma1 only (anti-Ma1 antibodies). The most common clinical presentations were limbic encephalopathy, diencephalic dysfunction, or brainstem encephalopathy, frequently appearing as a combination of these features. Three patients had isolated cerebellar dysfunction with anti-Ma antibodies, and 2 exhibited peripheral nervous system syndrome with anti-Ma2 antibodies. Testicular tumours were the most common neoplasms (40%) in the anti-Ma2 cases. In the group associated with anti-Ma1 antibodies, the most common were lung tumours (36%), followed by testicular tumours. All idiopathic cases were reactive to Ma2. The clinical outcome was significantly better in the anti-Ma2 group. The patient with anti-Ma1 presented with limbic encephalitis and brainstem dysfunction associated with lymphoepithelioma of the bladder. Conclusions: Specifically determining the different reactivities of anti-Ma protein antibodies in order to differentiate between Ma1 and Ma2 antibodies is important because anti-Ma2-associated paraneoplastic syndromes have a better outcome. Lastly, this study is the first to confirm that there may be cases that react exclusively to antibodies against Ma1. Resumen: Objetivo: Analizar el perfil clínico, los tipos de tumour asociado y la respuesta al tratamiento de los síndromes neurológicos paraneoplásicos asociados a anticuerpos contra proteínas Ma. Métodos: Estudio retrospectivo de los pacientes con anticuerpos contra proteínas Ma identificados en un laboratorio de referencia en neuroinmunología. Resultados: Se diagnosticó a 32 pacientes, 20 con reactividad frente a Ma2 aislada (anticuerpos anti-Ma2), 11 con reactividad frente a Ma1 y Ma2 (anticuerpos anti-Ma) y uno con reactividad frente a Ma1 aislada (anticuerpos anti-Ma1). La presentación clínica más frecuente fue un cuadro neurológico que de forma aislada o en combinación afectó al sistema límbico, diencéfalo y mesencéfalo. Tres pacientes presentaron un cuadro cerebeloso aislado con anti-Ma y 2 un síndrome periférico con anti-Ma2. Los tumores testiculares fueron los más frecuentes (40%) en los casos anti-Ma2. En el grupo asociado a anti-Ma1, los más frecuentes fueron los tumores de pulmón (36%), seguidos de los testiculares. Todos los casos idiopáticos fueron reactivos frente a Ma2. La evolución clínica fue significativamente mejor en el grupo anti-Ma2. El paciente con anti-Ma1 presentó un cuadro de encefalitis límbica y mesodiencefálica asociado a un cáncer linfoepitelial de vejiga. Conclusiones: La determinación específica de las diferentes reactividades de las proteínas Ma, diferenciando los anticuerpos frente a Ma1 y Ma2, es importante pues los síndromes neurológicos asociados a anticuerpos anti-Ma2 responden mejor al tratamiento. Finalmente, se confirma por primera vez que puede haber casos con anticuerpos que solo reaccionan contra Ma1. Keywords: Paraneoplastic neurological syndromes, Limbic encephalitis, Onconeural antibodies, Anti-Ma, Anti-Ma2, Palabras clave: Síndromes neurológicos paraneoplásicos, Encefalitis límbica, Anticuerpos onconeuronales, Anti-Ma, Anti-Ma2
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- 2018
- Full Text
- View/download PDF
5. Síndromes neurológicos paraneoplásicos asociados a anticuerpos anti-Ma y anti-Ma2
- Author
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G. Ortega Suero, N. Sola-Valls, D. Escudero, A. Saiz, and F. Graus
- Subjects
Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Resumen: Objetivo: Analizar el perfil clínico, los tipos de tumor asociado y la respuesta al tratamiento de los síndromes neurológicos paraneoplásicos asociados a anticuerpos contra proteínas Ma. Métodos: Estudio retrospectivo de los pacientes con anticuerpos contra proteínas Ma identificados en un laboratorio de referencia en neuroinmunología. Resultados: Se diagnosticó a 32 pacientes, 20 con reactividad frente a Ma2 aislada (anticuerpos anti-Ma2), 11 con reactividad frente a Ma1 y Ma2 (anticuerpos anti-Ma) y uno con reactividad frente a Ma1 aislada (anticuerpos anti-Ma1). La presentación clínica más frecuente fue un cuadro neurológico que de forma aislada o en combinación afectó al sistema límbico, diencéfalo y mesencéfalo. Tres pacientes presentaron un cuadro cerebeloso aislado con anti-Ma y 2 un síndrome periférico con anti-Ma2. Los tumores testiculares fueron los más frecuentes (40%) en los casos anti-Ma2. En el grupo asociado a anti-Ma1, los más frecuentes fueron los tumores de pulmón (36%), seguidos de los testiculares. Todos los casos idiopáticos fueron reactivos frente a Ma2. La evolución clínica fue significativamente mejor en el grupo anti-Ma2. El paciente con anti-Ma1 presentó un cuadro de encefalitis límbica y mesodiencefálica asociado a un cáncer linfoepitelial de vejiga. Conclusiones: La determinación específica de las diferentes reactividades de las proteínas Ma, diferenciando los anticuerpos frente a Ma1 y Ma2, es importante pues los síndromes neurológicos asociados a anticuerpos anti-Ma2 responden mejor al tratamiento. Finalmente, se confirma por primera vez que puede haber casos con anticuerpos que solo reaccionan contra Ma1. Abstract: Objective: Analyse the clinical profile, associated tumour types, and response to treatment of paraneoplastic neurological syndromes associated with antibodies against Ma proteins. Methods: A retrospective study of patients with antibodies against Ma proteins identified in a neuroimmunology laboratory of reference. Results: Of the 32 patients identified, 20 showed reactivity against Ma2 only (anti-Ma2 antibodies), 11 against Ma1 and Ma2 (anti-Ma antibodies), and 1 with reactivity against Ma1 only (anti-Ma1 antibodies). The most common clinical presentations were limbic encephalopathy, diencephalic dysfunction, or brainstem encephalopathy, frequently appearing as a combination of these features. Three patients had isolated cerebellar dysfunction with anti-Ma antibodies, and 2 exhibited peripheral nervous system syndrome with anti-Ma2 antibodies. Testicular tumours were the most common neoplasms (40%) in the anti-Ma2 cases. In the group associated with anti-Ma1 antibodies, the most common were lung tumours (36%), followed by testicular tumours. All idiopathic cases were reactive to Ma2. The clinical outcome was significantly better in the anti-Ma2 group. The patient with anti-Ma1 presented with limbic encephalitis and brainstem dysfunction associated with lymphoepithelioma of the bladder. Conclusions: Specifically determining the different reactivities of anti-Ma protein antibodies in order to differentiate between Ma1 and Ma2 antibodies is important because anti-Ma2-associated paraneoplastic syndromes have a better outcome. Lastly, this study is the first to confirm that there may be cases that react exclusively to antibodies against Ma1. Palabras clave: Síndromes neurológicos paraneoplásicos, Encefalitis límbica, Anticuerpos onconeuronales, Anti-Ma, Anti-Ma2, Keywords: Paraneoplastic neurological syndromes, Limbic encephalitis, Onconeural antibodies, Anti-Ma, Anti-Ma2
- Published
- 2018
- Full Text
- View/download PDF
6. Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España
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B Quintans Castro, A. López de Munain, T. Segura Martín, E Cubo Delgado, Ó Ayo Martín, P Mir Rivera, J Pardo Fernández, A Echevarría Íñiguez, A Ávila Rivera, C Fernández Moreno, N Caballol Pons, F.J. Navacerrada Barrero, M.J. Abenza Abildúa, Á Domingo Santos, B Alemany Perna, A. Vadillo Bermejo, E. Martínez Fernández, M. Bártulos Iglesias, I. Rouco Axpe, C Painous Martí, C. González Mingot, J Gascón Bayarri, L Bataller Alberola, E Blanco Vicente, A Carvajal Hernández, I Posada Rodríguez, G Fernández García Eulate, V Vélez Santamaría, M Baraldés Rovira, Josefina Muñoz, A.D. Adarmes Gómez, M J Sobrido Gómez, C Serrano Munuera, F Vázquez Sánchez, C Casasnovas Pons, R. Lobato Rodríguez, M. Palacín Larroy, R Sivera Mascaró, L Rojas Bartolomé, I Infante Ceberio, G. Ortega Suero, J. Gazulla Abio, F.J. Rodriguez de Rivera, C Labandeira Guerra, F Montón Álvarez, M T Casadevall Codina, F.J. Arpa Gutiérrez, E Costa Arpín, and I. Sanz Gallego
- Subjects
Gynecology ,03 medical and health sciences ,medicine.medical_specialty ,0302 clinical medicine ,Ataxia ,business.industry ,Hereditary spastic paraplegia ,medicine ,Neurology (clinical) ,medicine.symptom ,business ,medicine.disease ,030217 neurology & neurosurgery - Abstract
Resume Introduccion Las ataxias (AT) y paraparesias espasticas hereditarias (PEH) son sindromes neurodegenerativos raros. Nos proponemos conocer la prevalencia de las AT y PEH en Espana en 2019. Pacientes y metodos Estudio transversal, multicentrico, descriptivo y retrospectivo de los pacientes con AT y PEH, desde marzo de 2018 a diciembre de 2019 en toda Espana. Resultados Se obtuvo informacion de 1.809 pacientes procedentes de 11 Comunidades Autonomas, de 47 neurologos o genetistas. Edad media: 53,64 anos ± 20,51 desviacion estandar (DE); 920 varones (50,8%), 889 mujeres (49,2%). En 920 pacientes (47,6%) no se conoce el defecto genetico. Por patologias, 1.371 pacientes (70,9%) diagnosticados de AT, 562 diagnosticados de PEH (29,1%). La prevalencia estimada de AT es 5,48/100.000 habitantes, y la de PEH es 2,24 casos/100.000 habitantes. La AT dominante mas frecuente es la SCA3. La AT recesiva mas frecuente es la ataxia de Friedreich (FRDA). La PEH dominante mas frecuente es la SPG4, y la PEH recesiva mas frecuente es la SPG7. Conclusiones La prevalencia estimada de AT y PEH en nuestra serie es de 7,73 casos/100.000 habitantes. Estas frecuencias son similares a las del resto del mundo. En el 47,6% no se ha conseguido un diagnostico genetico. A pesar de las limitaciones, este estudio puede contribuir a estimar los recursos, visibilizar estas enfermedades, detectar las mutaciones mas frecuentes para hacer los screenings por comunidades, y favorecer los ensayos clinicos.
- Published
- 2021
- Full Text
- View/download PDF
7. Fístulas arteriovenosas espinales del adulto. Manejo de una serie de casos desde una planta de Neurología
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J. Porta Etessam, M. Moreu Gamazo, Gregorio Rodríguez-Boto, and G. Ortega-Suero
- Subjects
03 medical and health sciences ,0302 clinical medicine ,Clinical Neurology ,Neurology (clinical) ,lcsh:Neurology. Diseases of the nervous system ,lcsh:RC346-429 ,030217 neurology & neurosurgery ,030218 nuclear medicine & medical imaging - Abstract
Resumen: Objetivo: Las fístulas arteriovenosas espinales (FAVE) son excepcionales y representan el 3% de las lesiones espinales. Asocian gran morbilidad sin tratamiento precoz, pero el diagnóstico constituye un reto. Nuestro objetivo es evaluar sus características clínicas y revisar la evolución tras el tratamiento. ¿Puede ser tarde para tratar? Métodos: Presentamos una serie retrospectiva de 10 casos diagnosticados y tratados en 3 años en un hospital terciario. Resultados: Se observó un predominio masculino (80%). La edad media fue de 65,4 años. El síntoma inicial predominante fue la claudicación de la marcha/paraparesia (70%). En la mayoría de los pacientes la clínica fue lentamente progresiva. Al diagnóstico, lo habitual fue la combinación de síntomas motores, sensitivos y esfinterianos. El tiempo medio desde el inicio de los síntomas hasta el diagnóstico fue de 24,3 meses. El 60% tenía un diagnóstico inicial erróneo. La RM espinal fue diagnóstica en el 90% de los casos; la arteriografía, en el 100%. La localización más frecuente fue dorsal baja y el tipo anatómico predominante fue FAVE dural (7 pacientes). Todas fueron tratadas con embolización, cirugía o con ambas y el 70% mejoró tras su cierre, independientemente del tiempo de evolución. Conclusiones: El diagnóstico de las FAVE es difícil y generalmente tardío, lo que empeora el pronóstico de los pacientes. Se debe tener un alto nivel de sospecha ante síntomas de mielopatía o claudicación de la marcha exacerbadas con el ejercicio e intentar tratamiento precoz. Consideramos que el tratamiento siempre está indicado, independientemente del tiempo de evolución, al mejorar la calidad de vida o conseguir la estabilización. Abstract: Objective: Spinal arteriovenous fístulas (SAVF), a rare type of vascular malformation, account for 3% of all spinal cord lesions. Without early treatment, the associated morbidity is high; furthermore, SAVF pose a major diagnostic challenge. Our purpose was to evaluate the clinical characteristics of SAVF and review their progress after treatment to determine whether it may be too late for treatment in some cases. Methods: We present a retrospective series of 10 patients diagnosed with SAVF and treated at a tertiary hospital during a 3-year period. Results: In our sample, SAVF were found to be significantly more frequent in men (80%). Mean age in our sample was 65.4 years. The most common initial symptom was intermittent claudication/paraparesis (70%). In most patients, symptoms appeared slowly and progressively. At the time of diagnosis, the most common symptoms were motor, sensory, and sphincter disorders. Mean time from symptom onset to diagnosis was 24.3 months. Initial diagnosis was erroneous in 60% of the patients. Spinal MRI was diagnostic in 90% of these cases and arteriography in 100%. The most common location of the fistula was the lower thoracic region and the most frequent type was dural (7 cases). All patients were treated with embolisation, surgery, or both and 70% improved after fistula closure regardless of progression time. Conclusions: Diagnosis of SAVF is difficult and often delayed, which leads to poorer patient prognosis. We should have a high level of suspicion for SAVF in patients with intermittent claudication or paraparesis exacerbated by exercise. Early treatment should be started in these patients. Treatment should always aim to improve quality of life or stabilise symptoms, regardless of progression time. Palabras clave: Fístula arteriovenosa espinal, Fístula arteriovenosa dural espinal, Malformación vascular espinal, Enfermedad vascular espinal, Mielopatía, Arteriografía espinal, Keywords: Spinal arteriovenous fistula, Spinal dural arteriovenous fistula, Spinal vascular malformation, Spinal vascular disorder, Myelopathy, Spinal angiography
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- 2018
- Full Text
- View/download PDF
8. Spinal arteriovenous fistulas in adults: management of a series of patients treated at a Neurology department
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G. Ortega-Suero, J. Porta Etessam, M. Moreu Gamazo, and Gregorio Rodríguez-Boto
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medicine.medical_specialty ,business.industry ,Fistula ,Vascular malformation ,Arteriovenous fistula ,Retrospective cohort study ,medicine.disease ,Intermittent claudication ,lcsh:RC346-429 ,030218 nuclear medicine & medical imaging ,Surgery ,03 medical and health sciences ,Myelopathy ,0302 clinical medicine ,medicine.anatomical_structure ,Medicine ,Sphincter ,medicine.symptom ,business ,030217 neurology & neurosurgery ,lcsh:Neurology. Diseases of the nervous system ,Spinal Vascular Disorder - Abstract
Objective: Spinal arteriovenous fistulas (SAVFs), a rare type of vascular malformation, account for 3% of all spinal cord lesions. Without early treatment, the associated morbidity is high; furthermore, SAVFs pose a major diagnostic challenge. Our purpose was to evaluate the clinical characteristics of SAVFs and review their progress after treatment to determine whether they may be too late for treatment in some cases. Methods: We present a retrospective series of 10 patients diagnosed with SAVFs and treated at a tertiary hospital during a 3-year period. Results: In our sample, SAVFs were found to be significantly more frequent in men (80%). Mean age in our sample was 65.4 years. The most common initial symptom was intermittent claudication/paraparesis (70%). In most patients, symptoms appeared slowly and progressively. At the time of diagnosis, the most common symptoms were motor, sensory, and sphincter disorders. Mean time from symptom onset to diagnosis was 24.3 months. Initial diagnosis was erroneous in 60% of the patients. Spinal magnetic resonance imaging was diagnostic in 90% of these cases and arteriography in 100%. The most common location of the fistula was the lower thoracic region and the most frequent type was dural (seven cases). All patients were treated with embolisation, surgery, or both, and 70% improved after fistula closure regardless of progression time. Conclusions: Diagnosis of SAVFs is difficult and often delayed, which leads to poorer patient prognosis. We should have a high level of suspicion for SAVFs in patients with intermittent claudication or paraparesis exacerbated by exercise. Early treatment should be started in these patients. Treatment should always aim to improve the quality of life or stabilise symptoms, regardless of progression time. Resumen: Objetivo: Las fístulas arteriovenosas espinales (FAVE) son excepcionales y representan el 3% de las lesiones espinales. Asocian gran morbilidad sin tratamiento precoz, pero el diagnóstico constituye un reto. Nuestro objetivo es evaluar sus características clínicas y revisar la evolución tras el tratamiento. ¿Puede ser tarde para tratar? Métodos: Presentamos una serie retrospectiva de 10 casos diagnosticados y tratados en 3 años en un hospital terciario. Resultados: Se observó un predominio masculino (80%). La edad media fue de 65,4 años. El síntoma inicial predominante fue la claudicación de la marcha/paraparesia (70%). En la mayoría de los pacientes la clínica fue lentamente progresiva. Al diagnóstico, lo habitual fue la combinación de síntomas motores, sensitivos y esfinterianos. El tiempo medio desde el inicio de los síntomas hasta el diagnóstico fue de 24,3 meses. El 60% tenía un diagnóstico inicial erróneo. La RM espinal fue diagnóstica en el 90% de los casos; la arteriografía, en el 100%. La localización más frecuente fue dorsal baja y el tipo anatómico predominante fue FAVE dural (7 pacientes). Todas fueron tratadas con embolización, cirugía o con ambas y el 70% mejoró tras su cierre, independientemente del tiempo de evolución. Conclusiones: El diagnóstico de las FAVE es difícil y generalmente tardío, lo que empeora el pronóstico de los pacientes. Se debe tener un alto nivel de sospecha ante síntomas de mielopatía o claudicación de la marcha exacerbadas con el ejercicio e intentar tratamiento precoz. Consideramos que el tratamiento siempre está indicado, independientemente del tiempo de evolución, al mejorar la calidad de vida o conseguir la estabilización. Keywords: Spinal arteriovenous fistula, Spinal dural arteriovenous fistula, Spinal vascular malformation, Spinal vascular disorder, Myelopathy, Spinal angiography, Palabras clave: Fístula arteriovenosa espinal, Fístula arteriovenosa dural espinal, Malformación vascular espinal, Enfermedad vascular espinal, Mielopatía, Arteriografía espinal
- Published
- 2018
9. Réplica a la carta al editor «Fístulas arteriovenosas espinales durales: ¿tratamiento precoz endovascular o quirúrgico?»
- Author
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G. Ortega Suero and G. Rodríguez Boto
- Subjects
03 medical and health sciences ,0302 clinical medicine ,business.industry ,Medicine ,Neurology (clinical) ,business ,030217 neurology & neurosurgery ,030218 nuclear medicine & medical imaging - Published
- 2019
- Full Text
- View/download PDF
10. Reply to the Letter to the Editor 'Spinal dural arteriovenous fistulas: early endovascular treatment or surgery?'
- Author
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G. Ortega Suero and G. Rodríguez Boto
- Subjects
medicine.medical_specialty ,Letter to the editor ,business.industry ,Dural arteriovenous fistulas ,medicine ,Endovascular treatment ,business ,medicine.disease ,Surgery - Published
- 2019
- Full Text
- View/download PDF
11. Síndrome de dolor regional complejo tipo ii facial con cambios tróficos documentados
- Author
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G. Ortega Suero, T. Liaño Sánchez, David García-Azorín, and A. Marcos Dolado
- Subjects
03 medical and health sciences ,0302 clinical medicine ,business.industry ,Clinical Neurology ,Medicine ,030212 general & internal medicine ,Neurology (clinical) ,business ,030217 neurology & neurosurgery - Published
- 2016
- Full Text
- View/download PDF
12. Type II facial complex regional pain syndrome with documented trophic changes
- Author
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A. Marcos Dolado, David García-Azorín, T. Liaño Sánchez, and G. Ortega Suero
- Subjects
03 medical and health sciences ,0302 clinical medicine ,Complex regional pain syndrome ,Trophic changes ,business.industry ,Anesthesia ,medicine ,030212 general & internal medicine ,medicine.disease ,business ,030217 neurology & neurosurgery - Published
- 2016
- Full Text
- View/download PDF
13. Spinal arteriovenous fistulas in adults: Management of a series of patients treated at a neurology department
- Author
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G, Ortega-Suero, J, Porta Etessam, M, Moreu Gamazo, and G, Rodríguez-Boto
- Subjects
Aged, 80 and over ,Male ,Arteriovenous Fistula ,Humans ,Female ,Middle Aged ,Spinal Cord Diseases ,Aged ,Retrospective Studies - Abstract
Spinal arteriovenous fístulas (SAVF), a rare type of vascular malformation, account for 3% of all spinal cord lesions. Without early treatment, the associated morbidity is high; furthermore, SAVF pose a major diagnostic challenge. Our purpose was to evaluate the clinical characteristics of SAVF and review their progress after treatment to determine whether it may be too late for treatment in some cases.We present a retrospective series of 10 patients diagnosed with SAVF and treated at a tertiary hospital during a 3-year period.In our sample, SAVF were found to be significantly more frequent in men (80%). Mean age in our sample was 65.4 years. The most common initial symptom was intermittent claudication/paraparesis (70%). In most patients, symptoms appeared slowly and progressively. At the time of diagnosis, the most common symptoms were motor, sensory, and sphincter disorders. Mean time from symptom onset to diagnosis was 24.3 months. Initial diagnosis was erroneous in 60% of the patients. Spinal MRI was diagnostic in 90% of these cases and arteriography in 100%. The most common location of the fistula was the lower thoracic region and the most frequent type was dural (7 cases). All patients were treated with embolisation, surgery, or both and 70% improved after fistula closure regardless of progression time.Diagnosis of SAVF is difficult and often delayed, which leads to poorer patient prognosis. We should have a high level of suspicion for SAVF in patients with intermittent claudication or paraparesis exacerbated by exercise. Early treatment should be started in these patients. Treatment should always aim to improve quality of life or stabilise symptoms, regardless of progression time.
- Published
- 2016
14. Síndromes neurológicos paraneoplásicos asociados a anticuerpos anti-Ma y anti-Ma2
- Author
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G. Ortega Suero, Francesc Graus, Domingo Escudero, Nuria Sola-Valls, and Ana Saiz
- Subjects
03 medical and health sciences ,0302 clinical medicine ,030220 oncology & carcinogenesis ,Clinical Neurology ,Neurology (clinical) ,lcsh:Neurology. Diseases of the nervous system ,lcsh:RC346-429 ,030217 neurology & neurosurgery - Abstract
Resumen: Objetivo: Analizar el perfil clínico, los tipos de tumor asociado y la respuesta al tratamiento de los síndromes neurológicos paraneoplásicos asociados a anticuerpos contra proteínas Ma. Métodos: Estudio retrospectivo de los pacientes con anticuerpos contra proteínas Ma identificados en un laboratorio de referencia en neuroinmunología. Resultados: Se diagnosticó a 32 pacientes, 20 con reactividad frente a Ma2 aislada (anticuerpos anti-Ma2), 11 con reactividad frente a Ma1 y Ma2 (anticuerpos anti-Ma) y uno con reactividad frente a Ma1 aislada (anticuerpos anti-Ma1). La presentación clínica más frecuente fue un cuadro neurológico que de forma aislada o en combinación afectó al sistema límbico, diencéfalo y mesencéfalo. Tres pacientes presentaron un cuadro cerebeloso aislado con anti-Ma y 2 un síndrome periférico con anti-Ma2. Los tumores testiculares fueron los más frecuentes (40%) en los casos anti-Ma2. En el grupo asociado a anti-Ma1, los más frecuentes fueron los tumores de pulmón (36%), seguidos de los testiculares. Todos los casos idiopáticos fueron reactivos frente a Ma2. La evolución clínica fue significativamente mejor en el grupo anti-Ma2. El paciente con anti-Ma1 presentó un cuadro de encefalitis límbica y mesodiencefálica asociado a un cáncer linfoepitelial de vejiga. Conclusiones: La determinación específica de las diferentes reactividades de las proteínas Ma, diferenciando los anticuerpos frente a Ma1 y Ma2, es importante pues los síndromes neurológicos asociados a anticuerpos anti-Ma2 responden mejor al tratamiento. Finalmente, se confirma por primera vez que puede haber casos con anticuerpos que solo reaccionan contra Ma1. Abstract: Objective: Analyse the clinical profile, associated tumour types, and response to treatment of paraneoplastic neurological syndromes associated with antibodies against Ma proteins. Methods: A retrospective study of patients with antibodies against Ma proteins identified in a neuroimmunology laboratory of reference. Results: Of the 32 patients identified, 20 showed reactivity against Ma2 only (anti-Ma2 antibodies), 11 against Ma1 and Ma2 (anti-Ma antibodies), and 1 with reactivity against Ma1 only (anti-Ma1 antibodies). The most common clinical presentations were limbic encephalopathy, diencephalic dysfunction, or brainstem encephalopathy, frequently appearing as a combination of these features. Three patients had isolated cerebellar dysfunction with anti-Ma antibodies, and 2 exhibited peripheral nervous system syndrome with anti-Ma2 antibodies. Testicular tumours were the most common neoplasms (40%) in the anti-Ma2 cases. In the group associated with anti-Ma1 antibodies, the most common were lung tumours (36%), followed by testicular tumours. All idiopathic cases were reactive to Ma2. The clinical outcome was significantly better in the anti-Ma2 group. The patient with anti-Ma1 presented with limbic encephalitis and brainstem dysfunction associated with lymphoepithelioma of the bladder. Conclusions: Specifically determining the different reactivities of anti-Ma protein antibodies in order to differentiate between Ma1 and Ma2 antibodies is important because anti-Ma2-associated paraneoplastic syndromes have a better outcome. Lastly, this study is the first to confirm that there may be cases that react exclusively to antibodies against Ma1. Palabras clave: Síndromes neurológicos paraneoplásicos, Encefalitis límbica, Anticuerpos onconeuronales, Anti-Ma, Anti-Ma2, Keywords: Paraneoplastic neurological syndromes, Limbic encephalitis, Onconeural antibodies, Anti-Ma, Anti-Ma2
- Published
- 2016
- Full Text
- View/download PDF
15. Fístulas arteriovenosas espinales del adulto. Manejo de una serie de casos desde una planta de Neurología
- Author
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G. Ortega-Suero, J. Porta Etessam, M. Moreu Gamazo, and G. Rodríguez-Boto
- Subjects
Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Resumen: Objetivo: Las fístulas arteriovenosas espinales (FAVE) son excepcionales y representan el 3% de las lesiones espinales. Asocian gran morbilidad sin tratamiento precoz, pero el diagnóstico constituye un reto. Nuestro objetivo es evaluar sus características clínicas y revisar la evolución tras el tratamiento. ¿Puede ser tarde para tratar? Métodos: Presentamos una serie retrospectiva de 10 casos diagnosticados y tratados en 3 años en un hospital terciario. Resultados: Se observó un predominio masculino (80%). La edad media fue de 65,4 años. El síntoma inicial predominante fue la claudicación de la marcha/paraparesia (70%). En la mayoría de los pacientes la clínica fue lentamente progresiva. Al diagnóstico, lo habitual fue la combinación de síntomas motores, sensitivos y esfinterianos. El tiempo medio desde el inicio de los síntomas hasta el diagnóstico fue de 24,3 meses. El 60% tenía un diagnóstico inicial erróneo. La RM espinal fue diagnóstica en el 90% de los casos; la arteriografía, en el 100%. La localización más frecuente fue dorsal baja y el tipo anatómico predominante fue FAVE dural (7 pacientes). Todas fueron tratadas con embolización, cirugía o con ambas y el 70% mejoró tras su cierre, independientemente del tiempo de evolución. Conclusiones: El diagnóstico de las FAVE es difícil y generalmente tardío, lo que empeora el pronóstico de los pacientes. Se debe tener un alto nivel de sospecha ante síntomas de mielopatía o claudicación de la marcha exacerbadas con el ejercicio e intentar tratamiento precoz. Consideramos que el tratamiento siempre está indicado, independientemente del tiempo de evolución, al mejorar la calidad de vida o conseguir la estabilización. Abstract: Objective: Spinal arteriovenous fístulas (SAVF), a rare type of vascular malformation, account for 3% of all spinal cord lesions. Without early treatment, the associated morbidity is high; furthermore, SAVF pose a major diagnostic challenge. Our purpose was to evaluate the clinical characteristics of SAVF and review their progress after treatment to determine whether it may be too late for treatment in some cases. Methods: We present a retrospective series of 10 patients diagnosed with SAVF and treated at a tertiary hospital during a 3-year period. Results: In our sample, SAVF were found to be significantly more frequent in men (80%). Mean age in our sample was 65.4 years. The most common initial symptom was intermittent claudication/paraparesis (70%). In most patients, symptoms appeared slowly and progressively. At the time of diagnosis, the most common symptoms were motor, sensory, and sphincter disorders. Mean time from symptom onset to diagnosis was 24.3 months. Initial diagnosis was erroneous in 60% of the patients. Spinal MRI was diagnostic in 90% of these cases and arteriography in 100%. The most common location of the fistula was the lower thoracic region and the most frequent type was dural (7 cases). All patients were treated with embolisation, surgery, or both and 70% improved after fistula closure regardless of progression time. Conclusions: Diagnosis of SAVF is difficult and often delayed, which leads to poorer patient prognosis. We should have a high level of suspicion for SAVF in patients with intermittent claudication or paraparesis exacerbated by exercise. Early treatment should be started in these patients. Treatment should always aim to improve quality of life or stabilise symptoms, regardless of progression time. Palabras clave: Fístula arteriovenosa espinal, Fístula arteriovenosa dural espinal, Malformación vascular espinal, Enfermedad vascular espinal, Mielopatía, Arteriografía espinal, Keywords: Spinal arteriovenous fistula, Spinal dural arteriovenous fistula, Spinal vascular malformation, Spinal vascular disorder, Myelopathy, Spinal angiography
- Published
- 2018
- Full Text
- View/download PDF
16. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study.
- Author
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Ortega Suero G, Abenza Abildúa MJ, Serrano Munuera C, Rouco Axpe I, Arpa Gutiérrez FJ, Adarmes Gómez AD, Rodríguez de Rivera FJ, Quintans Castro B, Posada Rodríguez I, Vadillo Bermejo A, Domingo Santos Á, Blanco Vicente E, Infante Ceberio I, Pardo Fernández J, Costa Arpín E, Painous Martí C, Muñoz García JE, Mir Rivera P, Montón Álvarez F, Bataller Alberola L, Gascón Bayarri J, Casasnovas Pons C, Vélez Santamaría V, López de Munain A, Fernández-Eulate G, Gazulla Abío J, Sanz Gallego I, Rojas Bartolomé L, Ayo Martín Ó, Segura Martín T, González Mingot C, Baraldés Rovira M, Sivera Mascaró R, Cubo Delgado E, Echavarría Íñiguez A, Vázquez Sánchez F, Bártulos Iglesias M, Casadevall Codina MT, Martínez Fernández EM, Labandeira Guerra C, Alemany Perna B, Carvajal Hernández A, Fernández Moreno C, Palacín Larroy M, Caballol Pons N, Ávila Rivera A, Navacerrada Barrero FJ, Lobato Rodríguez R, and Sobrido Gómez MJ
- Subjects
- Male, Humans, Female, Middle Aged, Cross-Sectional Studies, Retrospective Studies, Spain epidemiology, Spastic Paraplegia, Hereditary epidemiology, Spastic Paraplegia, Hereditary genetics, Cerebellar Ataxia
- Abstract
Introduction: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019., Patients and Methods: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019., Results: We gathered data from a total of 1933 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 938 patients were men (48.5%) and 995 were women (51.5%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7., Conclusions: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials., (Copyright © 2021 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.)
- Published
- 2023
- Full Text
- View/download PDF
17. SARS-CoV-2 Infection in Multiple Sclerosis: Results of the Spanish Neurology Society Registry.
- Author
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Arrambide G, Llaneza-González MÁ, Costa-Frossard França L, Meca-Lallana V, Díaz EF, Moreno-Torres I, García-Domínguez JM, Ortega-Suero G, Ayuso-Peralta L, Gómez-Moreno M, Sotoca-Fernández JJ, Caminero-Rodríguez AB, Rodríguez de Antonio LA, Corujo-Suárez M, Otano-Martínez MA, Pérez-Miralles FC, Reyes-Garrido V, Ayuso-Blanco T, Balseiro-Gómez JJ, Muñoz-Pasadas M, Pérez-Molina I, Arnal-García C, Domingo-Santos Á, Guijarro-Castro C, Íñiguez-Martínez C, Téllez Lara N, Castellanos-Pinedo F, Castillo-Triviño T, Cerdán-Santacruz DM, Pérez-Sempere Á, Torres BS, Álvarez de Arcaya A, Costa-Arpín E, Durán-Ferreras E, Fragoso-Martínez M, González-Platas M, Landete Pascual L, Millán-Pascual J, Oreja-Guevara C, and Meca-Lallana JE
- Subjects
- Adult, Age Factors, COVID-19 epidemiology, Comorbidity, Female, Humans, Immunosuppressive Agents adverse effects, Male, Middle Aged, Multiple Sclerosis, Chronic Progressive epidemiology, Multiple Sclerosis, Relapsing-Remitting epidemiology, Neurology, Retrospective Studies, Risk Factors, Sex Factors, Societies, Medical, Spain, COVID-19 physiopathology, Immunocompromised Host, Immunosuppressive Agents administration & dosage, Multiple Sclerosis, Chronic Progressive drug therapy, Multiple Sclerosis, Relapsing-Remitting drug therapy, Registries, Severity of Illness Index
- Abstract
Objective: To understand COVID-19 characteristics in people with multiple sclerosis (MS) and identify high-risk individuals due to their immunocompromised state resulting from the use of disease-modifying treatments., Methods: Retrospective and multicenter registry in patients with MS with suspected or confirmed COVID-19 diagnosis and available disease course (mild = ambulatory; severe = hospitalization; and critical = intensive care unit/death). Cases were analyzed for associations between MS characteristics and COVID-19 course and for identifying risk factors for a fatal outcome., Results: Of the 326 patients analyzed, 120 were cases confirmed by real-time PCR, 34 by a serologic test, and 205 were suspected. Sixty-nine patients (21.3%) developed severe infection, 10 (3%) critical, and 7 (2.1%) died. Ambulatory patients were higher in relapsing MS forms, treated with injectables and oral first-line agents, whereas more severe cases were observed in patients on pulsed immunosuppressors and critical cases among patients with no therapy. Severe and critical infections were more likely to affect older males with comorbidities, with progressive MS forms, a longer disease course, and higher disability. Fifteen of 33 patients treated with rituximab were hospitalized. Four deceased patients have progressive MS, 5 were not receiving MS therapy, and 2 were treated (natalizumab and rituximab). Multivariate analysis showed age (OR 1.09, 95% CI, 1.04-1.17) as the only independent risk factor for a fatal outcome., Conclusions: This study has not demonstrated the presumed critical role of MS therapy in the course of COVID-19 but evidenced that people with MS with advanced age and disease, in progressive course, and those who are more disabled have a higher probability of severe and even fatal disease., (Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)
- Published
- 2021
- Full Text
- View/download PDF
18. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study.
- Author
-
Ortega Suero G, Abenza Abildúa MJ, Serrano Munuera C, Rouco Axpe I, Arpa Gutiérrez FJ, Adarmes Gómez AD, Rodríguez de Rivera FJ, Quintans Castro B, Posada Rodríguez I, Vadillo Bermejo A, Domingo Santos Á, Blanco Vicente E, Infante Ceberio I, Pardo Fernández J, Costa Arpín E, Painous Martí C, Muñoz JE, Mir Rivera P, Montón Álvarez F, Bataller Alberola L, Gascón Bayarri J, Casasnovas Pons C, Vélez Santamaría V, López Munain A, Fernández García Eulate G, Gazulla Abío J, Sanz Gallego I, Rojas Bartolomé L, Ayo Martín Ó, Segura Martín T, González Mingot C, Baraldés Rovira M, Sivera Mascaró R, Cubo Delgado E, Echevarría Íñiguez A, Vázquez Sánchez F, Bártulos Iglesias M, Casadevall Codina MT, Martínez Fernández EM, Labandeira Guerra C, Alemany Perna B, Carvajal Hernández A, Fernández Moreno C, Palacín Larroy M, Caballol Pons N, Ávila Rivera A, Navacerrada Barrero FJ, Lobato Rodríguez R, and Sobrido Gómez MJ
- Abstract
Introduction: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019., Patients and Methods: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019., Results: We gathered data from a total of 1.809 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 920 patients were men (50.8%) and 889 were women (49.2%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7., Conclusions: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials., (Copyright © 2021 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.)
- Published
- 2021
- Full Text
- View/download PDF
19. Reply to the letter to the Editor «Spinal dural arteriovenous fistulas: Early endovascular treatment or surgery?».
- Author
-
Ortega Suero G and Rodríguez Boto G
- Subjects
- Adult, Humans, Arteriovenous Fistula, Central Nervous System Vascular Malformations, Neurology
- Published
- 2019
- Full Text
- View/download PDF
20. A Novel Missense OPA1 Mutation in a Patient with Dominant Optic Atrophy and Cervical Dystonia.
- Author
-
Ortega-Suero G, Fernández-Matarrubia M, López-Valdés E, and Arpa J
- Published
- 2018
- Full Text
- View/download PDF
21. Spinal arteriovenous fistulas in adults: Management of a series of patients treated at a neurology department.
- Author
-
Ortega-Suero G, Porta Etessam J, Moreu Gamazo M, and Rodríguez-Boto G
- Subjects
- Aged, Aged, 80 and over, Arteriovenous Fistula diagnostic imaging, Arteriovenous Fistula surgery, Female, Humans, Male, Middle Aged, Retrospective Studies, Spinal Cord Diseases diagnostic imaging, Spinal Cord Diseases surgery, Arteriovenous Fistula diagnosis, Arteriovenous Fistula therapy, Spinal Cord Diseases diagnosis, Spinal Cord Diseases therapy
- Abstract
Objective: Spinal arteriovenous fístulas (SAVF), a rare type of vascular malformation, account for 3% of all spinal cord lesions. Without early treatment, the associated morbidity is high; furthermore, SAVF pose a major diagnostic challenge. Our purpose was to evaluate the clinical characteristics of SAVF and review their progress after treatment to determine whether it may be too late for treatment in some cases., Methods: We present a retrospective series of 10 patients diagnosed with SAVF and treated at a tertiary hospital during a 3-year period., Results: In our sample, SAVF were found to be significantly more frequent in men (80%). Mean age in our sample was 65.4 years. The most common initial symptom was intermittent claudication/paraparesis (70%). In most patients, symptoms appeared slowly and progressively. At the time of diagnosis, the most common symptoms were motor, sensory, and sphincter disorders. Mean time from symptom onset to diagnosis was 24.3 months. Initial diagnosis was erroneous in 60% of the patients. Spinal MRI was diagnostic in 90% of these cases and arteriography in 100%. The most common location of the fistula was the lower thoracic region and the most frequent type was dural (7 cases). All patients were treated with embolisation, surgery, or both and 70% improved after fistula closure regardless of progression time., Conclusions: Diagnosis of SAVF is difficult and often delayed, which leads to poorer patient prognosis. We should have a high level of suspicion for SAVF in patients with intermittent claudication or paraparesis exacerbated by exercise. Early treatment should be started in these patients. Treatment should always aim to improve quality of life or stabilise symptoms, regardless of progression time., (Copyright © 2017 The Authors. Publicado por Elsevier España, S.L.U. All rights reserved.)
- Published
- 2018
- Full Text
- View/download PDF
22. Teaching NeuroImages: Adult-onset vanishing white matter disease.
- Author
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Villar-Quiles RN, Delgado-Suárez C, Jorquera-Moya M, Arpa-Gutiérrez J, and Ortega-Suero G
- Subjects
- Adolescent, Diagnosis, Differential, Female, Humans, Leukoencephalopathies genetics, Leukoencephalopathies metabolism, Magnetic Resonance Imaging, Mutation, Missense, Ovarian Diseases genetics, Ovarian Diseases metabolism, Phenotype, White Matter metabolism, Eukaryotic Initiation Factor-2B genetics, Leukoencephalopathies diagnosis, Ovarian Diseases diagnosis, White Matter diagnostic imaging
- Published
- 2018
- Full Text
- View/download PDF
23. Anti-Ma and anti-Ma2-associated paraneoplastic neurological syndromes.
- Author
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Ortega Suero G, Sola-Valls N, Escudero D, Saiz A, and Graus F
- Subjects
- Brain Diseases, Brain Stem pathology, Female, Humans, Limbic Encephalitis immunology, Limbic Encephalitis therapy, Male, Middle Aged, Neoplasms diagnosis, Retrospective Studies, Spain, Antigens, Antigens, Neoplasm, Autoantibodies analysis, Limbic Encephalitis diagnosis, Nerve Tissue Proteins immunology
- Abstract
Objective: Analyse the clinical profile, associated tumour types, and response to treatment of paraneoplastic neurological syndromes associated with antibodies against Ma proteins., Methods: A retrospective study of patients with antibodies against Ma proteins identified in a neuroimmunology laboratory of reference., Results: Of the 32 patients identified, 20 showed reactivity against Ma2 only (anti-Ma2 antibodies), 11 against Ma1 and Ma2 (anti-Ma antibodies), and 1 with reactivity against Ma1 only (anti-Ma1 antibodies). The most common clinical presentations were limbic encephalopathy, diencephalic dysfunction, or brainstem encephalopathy, frequently appearing as a combination of these features. Three patients had isolated cerebellar dysfunction with anti-Ma antibodies, and 2 exhibited peripheral nervous system syndrome with anti-Ma2 antibodies. Testicular tumours were the most common neoplasms (40%) in the anti-Ma2 cases. In the group associated with anti-Ma1 antibodies, the most common were lung tumours (36%), followed by testicular tumours. All idiopathic cases were reactive to Ma2. The clinical outcome was significantly better in the anti-Ma2 group. The patient with anti-Ma1 presented with limbic encephalitis and brainstem dysfunction associated with lymphoepithelioma of the bladder., Conclusions: Specifically determining the different reactivities of anti-Ma protein antibodies in order to differentiate between Ma1 and Ma2 antibodies is important because anti-Ma2-associated paraneoplastic syndromes have a better outcome. Lastly, this study is the first to confirm that there may be cases that react exclusively to antibodies against Ma1., (Copyright © 2016 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.)
- Published
- 2018
- Full Text
- View/download PDF
24. Type II facial complex regional pain syndrome with documented trophic changes.
- Author
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García-Azorín D, Ortega Suero G, Liaño Sánchez T, and Marcos Dolado A
- Subjects
- Adult, Causalgia diagnostic imaging, Causalgia therapy, Electrodiagnosis, Facial Pain diagnostic imaging, Female, Humans, Tomography, X-Ray Computed, Ultrasonography, Causalgia physiopathology, Facial Pain etiology, Facial Pain therapy
- Published
- 2016
- Full Text
- View/download PDF
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