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.

Grandes variaciones en la utilización de pruebas por imagen en el diagnóstico y seguimiento de los pacientes con ictus / Variability in the use of neuroimaging techniques for diagnosis and follow-up of stroke patients

Introducción y objetivo: El radiodiagnóstico es esencial para precisar la planificación terapéutica de las personas con ictus, pero la incertidumbre sobre su efectividad puede contribuir a la variabilidad en su indicación. Este estudio tiene por objetivo describir la evolución del uso de TAC y RM en el manejo del ictus a lo largo de 5 años en la red hospitalaria del Servicio Canario de Salud y analizar la variabilidad interhospitalaria mediante el uso de datos administrativos recogidos rutinariamente. Pacientes y método: Se explotó el CMBD de los pacientes con diagnóstico de ictus o AIT (2005-2010) en 4 hospitales. Además, se incluyó la edad y el sexo del paciente, los procedimientos realizados, los diagnósticos secundarios y la estancia. Se realizó un análisis descriptivo de las características de los pacientes y un análisis bivariante mediante t de Student o Chi-cuadrado para detectar diferencias entre los pacientes según recibieran o no RM. Las desigualdades en el acceso a RM se analizaron mediante regresión logística. Resultados y conclusiones: Se incluyeron 10.487 pacientes adultos (8.571 con ictus y 1.916 con AIT). El porcentaje de pacientes con ictus que recibieron TAC aumentó desde el 89,47% en 2005 al 91,50% en 2010; en ellos, la RM aumentó desde el 25,41% en 2005 al 36,02% en 2010. Entre los pacientes con AIT el uso de TAC creció desde el 84,64 al 88,04%, y el de RM, desde el 32,53 al 39,13%. Nuestros resultados sugieren que ser mujer, joven y presentar mayor comorbilidad aumentan las probabilidades de recibir RM

Introduction and objective: Imaging diagnosis is essential for treatment planning in stroke patients. However, use of these techniques varies due to uncertainty about their effectiveness. Our purpose was to describe the use of CT and MRI in stroke and transient ischaemic attack (TIA) over 5 years in hospitals belonging to the Canary Islands Health Service and analyse interhospital variability based on routinely collected administrative data. Patients and method: We gathered the minimum basic dataset (MBDS) from patients diagnosed with stroke or TIA between 2005 and 2010 in 4hospitals. Patients' age, sex, procedures, secondary diagnoses, and duration of hospital stay were also recorded. We conducted a descriptive analysis of patient characteristics and a bivariate analysis using the t test and the chi square test to detect differences between patients assessed and not assessed with MRI. Logistic regression was used to analyse unequal access to MRI. Results and conclusions: Our study included 10,487 patients (8,571 with stroke and 1,916 with TIA). The percentage of stroke patients undergoing a CT scan increased from 89.47% in 2005 to 91.50% in 2010. In these patients, use of MRI also increased from 25.41% in 2005 to 36.02% in 2010. Among patients with TIA, use of CT increased from 84.64% to 88.04% and MRI from 32.53% to 39.13%. According to our results, female sex, younger age, and presence of comorbidities increase the likelihood of undergoing MRI

Variability in the use of neuroimaging techniques for diagnosis and follow-up of stroke patients. / Grandes variaciones en la utilización de pruebas por imagen en el diagnóstico y seguimiento de los pacientes con ictus.

INTRODUCTION AND OBJECTIVE: Imaging diagnosis is essential for treatment planning in stroke patients. However, use of these techniques varies due to uncertainty about their effectiveness. Our purpose was to describe the use of CT and MRI in stroke and transient ischaemic attack (TIA) over 5years in hospitals belonging to the Canary Islands Health Service and analyse interhospital variability based on routinely collected administrative data. PATIENTS AND METHOD: We gathered the minimum basic dataset (MBDS) from patients diagnosed with stroke or TIA between 2005 and 2010 in 4hospitals. Patients' age, sex, procedures, secondary diagnoses, and duration of hospital stay were also recorded. We conducted a descriptive analysis of patient characteristics and a bivariate analysis using the t test and the chi square test to detect differences between patients assessed and not assessed with MRI. Logistic regression was used to analyse unequal access to MRI. RESULTS AND CONCLUSIONS: Our study included 10,487 patients (8,571 with stroke and 1,916 with TIA). The percentage of stroke patients undergoing a CT scan increased from 89.47% in 2005 to 91.50% in 2010. In these patients, use of MRI also increased from 25.41% in 2005 to 36.02% in 2010. Among patients with TIA, use of CT increased from 84.64% to 88.04% and MRI from 32.53% to 39.13%. According to our results, female sex, younger age, and presence of comorbidities increase the likelihood of undergoing MRI.

[Friedreich's ataxia: analysis of magnetic resonance imaging parameters and their correlates with cognitive and motor slowing]. / Ataxia de Friedreich: análisis de parámetros de resonancia magnética y correlatos con el enlentecimiento cognitivo y motor.

INTRODUCTION: The heredodegenerative ataxias are a heterogeneous group of disorders affecting especially the cerebellum and its tracts. Magnetic resonance imaging (MRI) studies using quantitative methodology are scarce, particularly in Friedreich's ataxia (FA). On the other hand, slowness of information processing speed has been described in FA, but no empirical relation with MRI parameters has been established. OBJECTIVE: The aim of the present study was to quantitatively assess infra and supratentorial atrophy in patients with clinical diagnosis of FA and to establish the relationship with a information processing speed measure. PATIENTS AND METHODS: Twelve FA patients that fulfilled clinical diagnostic criteria and twelve control subjects were studied. A computerized system that differentiate reaction time and movement time, as well as a semiautomated technique of binarization and analysis of MRI were used. RESULTS: Patients showed a poorer performance in movement time and in reaction time. Analyzing the frequency of pathologic changes, vermal atrophy was present in 67% of the patients and cerebellar hemisphere atrophy in 50%. Only a minority of patients showed signs of supratentorial cerebral atrophy (17%). Statistically significant negative correlations were obtained between reaction time and the size of the cerebellum. CONCLUSIONS: Cerebellar hemisphere atrophy is a usual finding in FA, although vermal atrophy is more frequent. The relation between cerebellar atrophy and reaction time supports the claim about cerebellar involvement in the information processing and response speed.

Ataxia de Friedreich: análisis de parámetros de resonancia magnética y correlatos con el enlentecimiento cognitivo y motor / Friedreich's ataxia: analysis of magnetic resonance imaging parameters and their correlates with cognitive and motor slowing

Introducción. Las ataxias hereditarias degenerativas son un grupo heterogéneo de trastornos que afectan específicamente al cerebelo y los tractos cerebelosos. Son escasos en ellos los estudios cuantitativos de resonancia magnética (RM), especialmente en la ataxia de Friedreich (AF). Por otra parte, aunque se ha descrito un enlentecimiento en la velocidad de procesamiento en la AF, no se ha establecido su relación con los parámetros de RM. Objetivos. Valorar cuantitativamente las atrofias infratentorial y supratentorial en pacientes con diagnóstico clínico de AF y relacionarlas con una medida de velocidad de procesamiento. Pacientes y métodos. Seestudiaron 12 pacientes que cumplen los criterios clínicos de AF y 12 sujetos control. Utilizamos un sistema computarizado que analiza por separado los componentes mental y motor de los tiempos de reacción (TR) y un método semiautomatizado de digitalización y análisis de imágenes de RM. Resultados. Los pacientes muestran enlentecimiento, tanto mental como motor. En un análisis de la frecuencia de la presencia de atrofia, identificamos atrofia vermiana en un 67 por ciento de los casos, y afectación de los hemisferios cerebelosos en un 50 por ciento. Sólo una minoría de los casos (17 por ciento) mostró indicios de atrofia cerebral supratentorial. Se objetivaron correlaciones significativas, de signo negativo, entre los TR y el tamaño del cerebelo. Conclusiones. El vermis es la región más frecuentemente afectada, aunque la atrofia de los hemisferios cerebelosos es también un hallazgo común. La relación que existe entre la atrofia cerebelosa y los TR constituye una evidencia a favor de la participación del cerebelo en la velocidad de procesamiento y de respuesta (AU)

Introduction. Paroxysmal activity in medial temporal lobe epilepsy is originated in either hippocampal or parahippocampal regions. This activity can be directly recorded by foramen ovale electrodes. That paroxysmal activity will start from irritative or ictal areas. However, anatomo-functional relations between both regions are still debated. Objective. We describe a new physical very simple model which allows to directly analysis the anatomo-physiological relations between sources for interictal an ictal areas. Results. 1) The mathematical model allows to fit with minimum error and great precision the voltage sources originated from monopoles. 2) We can obtain this degree of precision with a matrix using an internodal distance of 0.1 mm (300 × 200 nodes) 3) Triplets of potentials with double sources -with equal or specially with inverse charges- have bigger error than monopolar charges. 4) Fitting real data obtained from a patient shows an error of 0.29 ± 0.17% for interictal and 0.54 ± 1.22 % and 2.84 ± 3.00 % for two seizures (mean ± SD) Conclusions. This model allows directly to know the relative anatomo-physiological relations between interictal and ictal sources in MTLE, which have a very important implications so for patho-physiological as therapeutics and outcome implications (AU)