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.

[Myths and evidence on the use of botulinum toxin: neuropharmacology and dystonia]. / Mitos y evidencias en el empleo de la toxina botulinica: neurofarmacologia y distonias.

INTRODUCTION: Botulinum toxin type A (BTA) is a bacterial endotoxin, whose therapeutic use has had a dramatic impact on different neurological disorders, such as dystonia and spasticity. AIM: To analyze and summarize different questions about the use of BTA in our clinical practice. DEVELOPMENT: A group of experts in neurology developed a list of topics related with the use of BTA. Two groups were considered: neuropharmacology and dystonia. A literature search at PubMed, mainly for English language articles published up to June 2016 was performed. The manuscript was structured as a questionnaire that includes those questions that, according to the panel opinion, could generate more controversy or doubt. The initial draft was reviewed by the expert panel members to allow modifications, and after subsequent revisions for achieving the highest degree of consensus, the final text was then validated. Different questions about diverse aspects of neuropharmacology, such as mechanism of action, bioequivalence of the different preparations, immunogenicity, etc. were included. Regarding dystonia, the document included questions about methods of evaluation, cervical dystonia, blepharospasm, etc. CONCLUSION: This review does not pretend to be a guide, but rather a tool for continuous training of residents and specialists in neurology, about different specific areas of the management of BTA.

TITLE: Mitos y evidencias en el empleo de la toxina botulinica: neurofarmacologia y distonias.Introduccion. La toxina botulinica de tipo A (TBA) ha supuesto una verdadera revolucion terapeutica en neurologia, y en la actualidad es el tratamiento rutinario en las distonias focales y la espasticidad. Objetivo. Plantear, revisar y responder cuestiones controvertidas en relacion con la neurofarmacologia de la TBA y su uso en las distonias en la practica clinica habitual. Desarrollo. Un grupo de expertos en trastornos del movimiento reviso una lista de temas controvertidos relacionados con la farmacologia de la TBA y su uso en las distonias. Revisamos la bibliografia e incluimos articulos relevantes especialmente en ingles, pero tambien, si su importancia lo merece, en castellano y en frances, hasta junio de 2016. El documento se estructuro como un cuestionario que incluyo las preguntas que podrian generar mayor controversia o duda. El borrador inicial del documento fue revisado por los miembros del panel y se realizaron las modificaciones necesarias hasta alcanzar el mayor grado de consenso. Incluimos preguntas sobre diferentes aspectos de la neurofarmacologia, especialmente el mecanismo de accion, la bioequivalencia de los diferentes preparados y la inmunogenicidad. En relacion con el subapartado de las distonias, se incluyeron aspectos sobre la evaluacion y el tratamiento de las distonias focales. Conclusiones. Esta revision no pretende ser una guia, sino una herramienta practica destinada a neurologos y medicos internos residentes interesados en esta area, dentro de diferentes ambitos especificos del manejo de la TBA.

[Alzheimer's disease and women]. / Enfermedad de Alzheimer y mujer.

INTRODUCTION AND DEVELOPMENT: This work reviews the relation between Alzheimer s disease (AD) and women, a very interesting issue both for its socio economic, and etiopathogenic and therapeutic aspects. Much of the prevalent research conducted in this field shows that a higher proportion of suffers from this disease are women, and in the work on incidence there is at least a tendency toward the same conclusion, especially at a very advanced age. In fact, the risk of suffering from AD is greater among women and most of the patients we attend are females, which is to a large extent associated with the fact that women live longer. However, it is possible that there are other biological factors involved and for this reason the action of estrogens on the brain and the consequences of women s being deprived of them during menopause is of special interest. CONCLUSIONS: Different studies have shown that the administration of hormone replacement therapy (HRT) lowers the risk of suffering from this disease, although design defects make it necessary to wait for the conclusions from other research work currently being conducted. There are also data that supports the idea that HRT can be beneficial in AD if it is administered in suitable doses. Obviously gender can influence or modulate other risk factors (RF). Genetic factors are not easily modified and for this reason research is currently aimed at factors in which a strong environmental component is involved. Another very controversial possible RF is lack of schooling, but some data support the notion that its influence can be especially harmful among females. This is a very important hypothesis because women make up the greater part of the illiterate population in Spain. Finally, women are also prevalent among caregivers and, therefore, suffer AD from both angles: they must care and be cared for. The reaction to this situation seems to be gender specific, which means that women in particular suffer the consequences of the lack of reciprocity brought about by AD something that does not happen in other equally devastating chronic processes, but which affect the physical sphere.

[Time analysis of mortality from cerebrovascular diseases in Andalucia (1975-1999)]. / Análisis temporal de la mortalidad por enfermedades cerebrovasculares en Andalucía (1975-1999).

INTRODUCTION: In previous publications we analysed the tendency of mortality from cerebrovascular diseases (CVD) in Andalusia over the period 1975-1992, and we observed a marked decrease in the mortality rates in both sexes. AIMS. To describe the evolution of mortality from CVD in Andalusia throughout the period 1975-1999. PATIENTS AND METHODS: Deaths from CVD over the period 1975 1999 were obtained from the Instituto Andaluz de Estadística. We employed the direct method of standardisation of rates (world standard population). The rates were subjected to logarithmic transformations and the regression lines were adjusted. RESULTS: A considerable decrease was found in the rates: 3.9% in males and 4.0% in females. The drop in truncated rates (35 64 years old) was greater in women ( 5.9%) than in men ( 4.3%). CONCLUSIONS: Our work shows a marked and continuous decrease in mortality from CVD in Andalusia (1975-1999). In accordance with the process of aging of the population, the magnitude of CVD measured in terms of deaths, invalidity and health costs still represents a great challenge for preventative and health care policies.

Enfermedad de Alzheimer y mujer / Alzheimer's disease and women

Introducción y desarrollo. Este trabajo revisa la relación entre la enfermedad de Alzheimer (EA) y la mujer, un capítulo muy interesante, tanto por sus aspectos socioeconómicos, como por los etiopatogénicos y terapéuticos. En efecto, gran parte de los trabajos de prevalencia muestran un predominio femenino en esta enfermedad, y en los trabajos de incidencia hay al menos una tendencia al predominio femenino, especialmente en edad muy avanzada. De hecho, el riesgo de padecer una EA es superior en el sexo femenino y la mayor parte de los enfermos que asistimos son mujeres, lo que se relaciona en gran medida con la mayor supervivencia de la mujer. No obstante, es posible que intervengan otros factores biológicos y, en este sentido, la acción de los estrógenos sobre el cerebro y las consecuencias de su deprivación durante la menopausia son muy interesantes. Conclusiones. Diversos estudios han mostrado que la administración de terapéutica hormonal sustitutiva (THS) disminuye el riesgo de padecer la enfermedad, aunque defectos de diseño hacen necesario esperar las conclusiones de otros trabajos en marcha. También existen datos que apoyan que la THS puede conseguir beneficios en la EA si se administra a dosis adecuadas. Por supuesto, el sexo puede influir o modular otros factores de riesgo (FR). Los factores genéticos se modifican poco y, por ello, se prefiere de momento dirigir la atención a los factores de fuerte componente ambiental. En este sentido, la falta de escolarización es un posible FR muy discutido, pero ciertos datos apoyan que su influencia puede ser especialmente perniciosa en el sexo femenino; este es un dato importante, porque precisamente entre los analfabetos de nuestro país predominan las mujeres. Finalmente, en lo que se refiere a los cuidadores, también aquí predominan las mujeres, que, por tanto, sufren la EA en ambas vertientes: recibir y administrar cuidados. La reacción a esta situación parece ser genero específica, de forma que la mujer sufre especialmente las consecuencias de la falta de reciprocidad que ocasiona la EA, algo que no ocurre en otros procesos crónicos igualmente devastadores, pero que afectan la esfera física (AU)

Análisis temporal de la mortalidad por enfermedadescerebrovasculares en Andalucía (1975-1999) / Time analysis of mortality from cerebrovascular diseases in andalusia (1975-1999)

Introducción. En publicaciones previas analizamos la tendencia de la mortalidad por enfermedades cerebrovasculares (ECV) en Andalucía durante el período 1975-1992, y observamos un marcado descenso en las tasas de mortalidad en ambos sexos. Objetivo. Describir la evolución de la mortalidad por ECV en Andalucía durante el período 1975-1999. Pacientes y métodos. Las defunciones por ECV durante el período 1975-1999 se obtuvieron del Instituto Andaluz de Estadística. Se usó el método directo de estandarización de tasas (población estándar mundial). Se practicaron transformaciones logarítmicas de las tasas y se ajustaron las rectas de regresión. Resultados. Se observó un descenso considerable en las tasas: -3,9 por ciento en varones y -4,0 por ciento en mujeres. El descenso en las tasas truncadas (3564 años) fue mayor en las mujeres (-5,9 por ciento) que en los varones (-4,3 por ciento).Conclusiones. Nuestro trabajo muestra un marcado y continuo descenso en la mortalidad por ECV en Andalucía (1975-1999). De acuerdo con el proceso del envejecimiento de la población, la magnitud de las ECV medida en términos de muertes, discapacidades y costes de salud, representa todavía un gran reto para las políticas preventivas y de cuidados de salud (AU)