Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España / Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study

Introducción: Las ataxias (AT) y paraparesias espásticas hereditarias (PEH) son síndromes neu-rodegenerativos raros. Nos proponemos conocer la prevalencia de las AT y PEH en Espa˜na en2019.Pacientes y métodos: Estudio transversal, multicéntrico, descriptivo y retrospectivo de lospacientes con AT y PEH, desde marzo de 2018 a diciembre de 2019 en toda Espa˜na.Resultados: Se obtuvo información de 1933 pacientes procedentes de 11 Comunidades Autóno-mas, de 47 neurólogos o genetistas. Edad media: 53,64 a˜nos ± 20,51 desviación estándar (DE);938 varones (48,5%), 995 mujeres (51,5%). En 920 pacientes (47,6%) no se conoce el defectogenético. Por patologías, 1.371 pacientes (70,9%) diagnosticados de AT, 562 diagnosticados dePEH (29,1%). La prevalencia estimada de AT es 5,48/100.000 habitantes, y la de PEH es 2,24casos/100.000 habitantes. La AT dominante más frecuente es la SCA3. La AT recesiva más fre-cuente es la ataxia de Friedreich (FRDA). La PEH dominante más frecuente es la SPG4, y la PEHrecesiva más frecuente es la SPG7.Conclusiones: La prevalencia estimada de AT y PEH en nuestra serie es de 7,73 casos/100.000habitantes. Estas frecuencias son similares a las del resto del mundo. En el 47,6% no se haconseguido un diagnóstico genético. A pesar de las limitaciones, este estudio puede contribuira estimar los recursos, visibilizar estas enfermedades, detectar las mutaciones más frecuentespara hacer los screenings por comunidades, y favorecer los ensayos clínicos.(AU)

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, descrip-tive study of patients with ataxia and hereditary spastic paraplegia in Spain between March2018 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 wasunidentified 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 paraplegiawere estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequenttype of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia wasFriedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in oursample was SPG4, and the most frequent recessive type was SPG7.Conclusions: In our sample, the estimated prevalence of ataxia and hereditary spastic para-plegia was 7.73 cases per 100 000 population. This rate is similar to those reported for othercountries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, ourstudy provides useful data for estimating the necessary healthcare resources for these patients,raising awareness of these diseases, determining the most frequent causal mutations for localscreening programmes, and promoting the development of clinical trials.(AU)

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

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.

Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study. / Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España.

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.

Réplica a la carta al editor «Fístulas arteriovenosas espinales durales: ¿tratamiento precoz endovascular o quirúrgico?» / Reply to the letter to the Editor «Spinal dural arteriovenous fistulas: Early endovascular treatment or surgery?»

No disponible

Fístulas arteriovenosas espinales del adulto. Manejo de una serie de casos desde una planta de Neurología / Spinal arteriovenous fistulas in adults: Management of a series of patients treated at a neurology department

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

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

Síndromes neurológicos paraneoplásicos asociados a anticuerpos anti-Ma y anti-Ma2 / Anti-Ma and anti-Ma2-associated paraneoplastic neurological syndromes

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 (AU)

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 (AU)

Anti-Ma and anti-Ma2-associated paraneoplastic neurological syndromes. / Síndromes neurológicos paraneoplásicos asociados a anticuerpos anti-Ma y anti-Ma2.

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.

Spinal arteriovenous fistulas in adults: Management of a series of patients treated at a neurology department. / Fístulas arteriovenosas espinales del adulto. Manejo de una serie de casos desde una planta de Neurología.

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.

Síndrome de dolor regional complejo tipo ii facial con cambios tróficos documentados / Type II facial complex regional pain syndrome with documented trophic changes

No disponible