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1. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study

Author

Ortega Suero, G., Abenza Abildúa, M.J., Serrano Munuera, C., Rouco Axpe, I., Arpa Gutiérrez, F.J., Adarmes Gómez, A.D., Rodríguez de Rivera, F.J., 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, J.E., 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, M.T., Martínez Fernández, E.M., Labandeira Guerra, C., Alemany Perna, B., Carvajal Hernández, A., Fernández Moreno, C., Palacín Larroy, M., Caballol Pons, N., Ávila Rivera, A., Navacerrada Barrero, F.J., Lobato Rodríguez, R., and Sobrido Gómez, M.J.

Published
2023
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2. Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España

Author

Ortega Suero, G., Abenza Abildúa, M.J., Serrano Munuera, C., Rouco Axpe, I., Arpa Gutiérrez, F.J., Adarmes Gómez, A.D., Rodríguez de Rivera, F.J., 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, J.E., 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, M.T., Martínez Fernández, E.M., Labandeira Guerra, C., Alemany Perna, B., Carvajal Hernández, A., Fernández Moreno, C., Palacín Larroy, M., Caballol Pons, N., Ávila Rivera, A., Navacerrada Barrero, F.J., Lobato Rodríguez, R., and Sobrido Gómez, M.J.

Published
2023
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5. 20252. ESTUDIO MULTICÉNTRICO SOBRE LA INCIDENCIA, PRESENTACIÓN CLÍNICA Y FACTORES DE RIESGO DE LA NEUROTOXICIDAD ASOCIADA A LA TERAPIA CON CÉLULAS CART ANTI-CD19 EN ESPAÑA: WORK IN PROGRESS

Author

Cabrera Maqueda, J., Fonseca, E., Guerra, V., Alba-Isasi, T., Martínez-Cibrián, N., Ortiz-Maldonado, V., Serra Smith, C., Gómez Costas, D., García Domínguez, J., Fernández Bullido, Y., Gómez Llobell, M., Hernández Chamorro, F., Hernández Ramos, F., Palomino García, A., Alañá García, M., González García, A., López Corral, L., Velilla, G., Herrero San Martín, A., Pérez Rangel, D., García-Bellido Ruíz, S., Sánchez Pina, J., García Gil-Perotin, S., Cabello, J., Bataller Alberola, L., Sanz, J., Velasco, R., Castillo, T., Arruti, M., Zeberio, I., Mendibil, B., Chico García, J., Sainz de la Maza, S., Corral, Í., Chinea-Rodríguez, A., Cabezudo García, P., Serrano Castro, P., Díaz Aizpun, C., Isidro Muñoz, M., Massot Cladera, M., Barceló Artigues, M., Torres, G., Aguilar-Amat Prior, M., Gómez Prieto, P., de la Cruz-Benito, B., Cacabelos, P., Martínez Coego, C., Bao Pérez, L., González Suárez, I., Sequeiros, S., Vázquez Álvarez, J., García Molina, E., Hernández Clares, R., Español, I., Domínguez-Gallego, M., Aguirre Hernández, C., Meca Lallana, V., Alba Alcántara, L., Subín Muñoz, J., Esain, Í., Navarro Matilla, B., Martín-Aguilar, L., Querol, L., Carolina Caballero, A., Briones, J., Izquierdo, C., Torrent, A., Gállego, J., Delgado, J., Martínez-Hernández, E., and Blanco, Y.

Published
2024
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9. 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

Subjects
Ataxias, Paraparesias espásticas hereditarias, congenital, hereditary, and neonatal diseases and abnormalities, Genetic map, Epidemiology, Materials Chemistry, Genetics, Hereditary spastic paraplegia, Epidemiología, Mapa genético, Ataxia, Genética, nervous system diseases
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.

Published
2020

10. Increased Velocity Storage in Subjects with Meniere’s Disease

Author

Krstulovic C, Morera Pérez C, Atrache Al Attrache N, Bataller Alberola L, Pérez Garrigues H, and Herminia Argente-Escrig

Subjects
Adult, Male, medicine.medical_specialty, Rotation, genetic structures, Velocity storage, Acceleration, Nystagmus, Vestibular Nerve, Audiology, Synaptic Transmission, Functional Laterality, 03 medical and health sciences, 0302 clinical medicine, Reference Values, otorhinolaryngologic diseases, medicine, Humans, Neurons, Afferent, 030223 otorhinolaryngology, Galvanic vestibular stimulation, Meniere Disease, Aged, Vestibular system, medicine.diagnostic_test, business.industry, Electronystagmography, Signal Processing, Computer-Assisted, Reflex, Vestibulo-Ocular, General Medicine, Middle Aged, Vestibular Function Tests, Vestibular nerve, medicine.disease, Electric Stimulation, Peripheral, Otorhinolaryngology, Female, Vestibule, Labyrinth, sense organs, medicine.symptom, business, 030217 neurology & neurosurgery, Meniere's disease
Abstract

OBJECTIVE Velocity storage mechanism is a multisensory rotation estimator; it compensates for errors in the information provided by the peripheral vestibular organs by means of an adjustment in the duration of the vestibular signal. The aim of this study was to determine the activity of the velocity storage mechanism in the presence of a labyrinthine disorder, using galvanic vestibular stimulation to cause direct activation of the vestibular afferent neurons. MATERIALS AND METHODS Forty-one subjects with definite Meniere's disease (MD) and 36 healthy volunteers were evaluated using a 20-s galvanic vestibular stimulation. RESULTS We found a post-stimulus nystagmus overshoot exclusively in subjects with MD (47% in subjects with unilateral disease and 82% in subjects with bilateral disease), but no overshoot in healthy subjects. CONCLUSION Because post-stimulus nystagmus overshoot is caused by the velocity storage mechanism, this finding suggests an increase in the velocity storage in subjects with a labyrinthine disease.

Published
2016
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12. Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España

Author

Ortega Suero, G., Abenza Abildúa, M.J., Serrano Munuera, C., Rouco Axpe, I., Arpa Gutiérrez, F.J., Adarmes Gómez, A.D., Rodríguez Rivera, F.J., 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, J.E., 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, M.T., Martínez Fernández, E.M., Lavandeira Suárez, C., Alemany Perna, B., Carvajal Hernández, A., Fernández Moreno, C., Palacín Larroy, M., Caballol Pons, N., Ávila Rivera, A., Navacerrada Barrero, F.J., Lobato Rodríguez, R., and Sobrido Gómez, M.J.

Abstract

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.

Published
2021
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13. 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
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14. New clinical and toxicological scenario of gammaglutamyltranspeptidase.

Author

Bataller-Sifré R, Guiral-Olivan V, and Bataller-Alberola L

Subjects
Alcoholic Intoxication diagnosis, Alcoholic Intoxication enzymology, Biomarkers metabolism, Chemical and Drug Induced Liver Injury diagnosis, Chemical and Drug Induced Liver Injury enzymology, Diabetes Mellitus diagnosis, Diabetes Mellitus enzymology, Environmental Exposure adverse effects, Environmental Exposure analysis, Environmental Pollutants adverse effects, Humans, Liver Diseases diagnosis, Liver Diseases enzymology, Myocardial Infarction diagnosis, Myocardial Infarction enzymology, Oxidative Stress, gamma-Glutamyltransferase metabolism
Abstract

After the discovery of gammaglutamyltranspeptidase in 1950 by Hanes, the significance of its increased levels in clinical practice has mainly been focused on ethanol toxicity, and also some neoplasms and biliary tract obstruction. More recently, attention has swift to the metabolic functions of this enzyme, as a neutralizer of oxygen free radicals and as a glutathione donor to the cell. High serum levels of gammaglutamyltranspeptidase is known to occur when oxidative stress is increased, or associated with several vascular risk factors and the insulin resistance syndrome, as an early marker of diabetes. There are also a number of drugs that induce the expression of the tissue enzyme (microsomes) with the result of high serum levels without structural damage to the liver. Because it is a ubiquitous enzyme, a very high number of causes can be involved, that may be difficult to recognize. Finally, because glutathione is necessary to conjugate a number of chemical compounds, from an epidemiological and toxicological perspective, the enzyme might be useful as a biomarker of several ambient toxins.In this review we want to emphasize the increasing clinical and diagnostic significance of this enzyme discovered half a century ago.

Published
2011
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15. [Creutzfeldt-Jakob disease with unilateral onset: clinical profile and neuroimaging].

Author

Blasco Olcina R, Yaya Huamán R, Garcés Sánchez M, Villanueva Haba VE, Bataller Alberola L, and Baquero Toledo M

Subjects
14-3-3 Proteins, Aged, Creutzfeldt-Jakob Syndrome cerebrospinal fluid, Disease Progression, Electroencephalography, Enzyme Inhibitors cerebrospinal fluid, Humans, Magnetic Resonance Imaging, Male, Paresis etiology, Tyrosine 3-Monooxygenase cerebrospinal fluid, Cerebral Cortex pathology, Creutzfeldt-Jakob Syndrome diagnosis, Creutzfeldt-Jakob Syndrome physiopathology
Abstract

The usual clinical profile of Creutzfeldt-Jakob disease (CJD) is that of subacute dementia and intractable myoclonus. Occasionally, some cases present peculiar clinical features. We report on a case of CJD with an unilateral onset showing remarkable neuroimaging features. The patient, aged 72 years, began to suffer from sudden anomia, initially restricted to persons; but in a few weeks it evolved into a global aphasia, right hemiparesis, severe gait disorder, and finally akinetic mutism and intractable myoclonus. He died 11 weeks after onset. Early in the course, an analysis of 14-3-3 protein in CSF was positive. In advanced disease, the EEG showed the typical periodic activity of CJD. FLAIR MRI study showed a mesencephalic and focal cortical hyperintensity. Autopsy was performed and confirmed the diagnosis of CJD with an extensive presence of generalised spongiosis in cerebral grey matter. This case illustrates the usefulness of the life recent paraclinical methods to diagnose CJD in life. New MRI techniques seems to be particularly relevant, as they are not limited to exclude other conditions but can also offer data with validity to a positive diagnosis, like grey matter hyperintensity, that in this case was present also in the midbrain.

Published
2001

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