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.

Cerebral hemodynamics is altered in patients with sleep apnea/hypopnea syndrome.

According to recent epidemiologic studies, patients with sleep apnea/hypopnea syndrome (SAHS) are at increased risk of cardiovascular diseases, including stroke. However, the mechanisms are not well defined. Nocturnal apneas can trigger acute cerebral ischemia in predisposed patients and impaired vasodilatation is present in SAHS, but few studies have explored vascular cerebral dysfunction and often gave inconclusive results. The aims of our study were to assess whether patients with SAHS have impairment of cerebral hemodynamics with respect to controls, and to investigate a possible relationship with clinical data. We studied two groups, one of 76 SAHS patients and another one of 76 non-SAHS subjects matched for age, sex and main cardiovascular risk factors. All participants underwent a daytime transcranial Doppler study of right middle cerebral artery to record cerebral blood flow velocity and cerebrovascular reactivity by means of breath-holding test (BHT). SAHS patients have a reduction in mean cerebral blood flow velocity (MFV) (52 ± 9 vs 60 ± 12 cms/s, p < 0.001) and BHT (31 ± 12 vs 36 ± 11 %, p = 0.005) when compared to non-SAHS controls. Moreover, MFV correlated negatively with the presence of coronary disease, and BHT with female sex and arterial pressure. On the other hand, in the SAHS group, MFV correlated negatively with oxygen desaturation severity. Patients with SAHS have impaired MFV and cerebrovascular reactivity when compared to controls. Interestingly, poorly controlled or unknown hypertension and severe nocturnal hypoxemia caused additional cerebral hemodynamic disturbances to these patients.

Cerebral hemodynamic changes at basilar artery in patients with obstructive sleep apnea syndrome. A case-control study.

INTRODUCTION: Obstructive sleep apnea syndrome (OSAS) is characterized in polysomnography by recurrent airflow obstruction during sleep. The underlying pathogenic mechanisms of neuropsychological and cerebrovascular events in patients with OSAS have not been clarified unequivocally. MATERIAL AND METHODS: Case-control study to evaluate the cerebral vasomotor reactivity assessed by breath-holding maneuver at basilar artery in patients with OSAS compared to control subjects. RESULTS: The study included 76 patients with OSAS and 76 controls. Vascular risk factors (arterial hypertension, diabetes mellitus, hypercholesterolemia, smoking), age, gender, coronary, and peripheral arterial diseases were similar in both groups. Patients with OSAS had breath-holding test values (31.9 ± 13.35%) lower than controls (39.06 ± 13.16%), (P = 0.001). Patients with OSAS had higher systolic and diastolic blood pressure both basal and apnea and also a higher basal heart rate. CONCLUSIONS: Altered cerebral hemodynamics together with increased blood pressure values in patients with OSAS may play a role in the association between this disease and the development of cerebrovascular events. This implies that this disease should be identified through guide symptoms such as snoring, sleep apnea, and daytime sleepiness in all patients who consult for these symptoms to reduce the number of cerebrovascular events.

Recursos asistenciales en ictus en España 2010: análisis de una encuesta nacional del Grupo de Estudio de Enfermedades Cerebrovasculares / Health care resources for stroke patients in Spain, 2010: analysis of a national survey by the Cerebrovascular Diseases Study Group

Introduction: Stroke is currently a major social health problem. For this reason, the Spanish Ministry of Health approved the Stroke National Strategy (SNS) in 2008 to improve the prevention, treatment and rehabilitation of stroke patients. This plan intends to guarantee 24-hour, 365-days neurological assistance in the whole country by the end of 2010. Our aim was to analyse the situation of stroke assistance in Spain in 2009. Material and methods: A committee of neurologists practicing in the different autonomous communities (AC), and who had not participated in the preparation of the SNS, was created. A national survey was performed including the number of stroke units (SU) and their characteristics (monitoring, 24-h/7-day on-call neurology service, nursing staff ratio and the use of protocols), bed ratio of SU/100,000 people, availability of intravenous thrombolysis therapy, neurovascular intervention (NI) and telemedicine. Results: We included data from 145 hospitals. There are 39 SU in Spain, unevenly distributed. The ratio between SU bed/number of people/AC varied from 1/75,000 to 1/1,037,000 inhabitants; Navarra and Cantabria met the goal. Intravenous thrombolysis therapy is used in 80 hospitals; the number of treatments per AC was between 7 and 536 in 2008. NI was performed in the 63% of the AC, with a total of 28 qualified hospitals (although only 1 hospital performed it 24h, 7days a week in 2009). There were 3 hospitals offering clinical telemedicine services. Conclusions: Assistance for stroke patients has improved in Spain compared to previous years, but there are still some important differences between the AC that must be eliminated to achieve the objectives of the SNS (AU)

Introducción: El ictus constituye un importante problema sociosanitario. Por ese motivo, el Ministerio de Sanidad aprobó en 2008 la Estrategia Nacional en Ictus (ENI) con el objetivo de mejorar la prevención, tratamiento y rehabilitación del paciente con ictus. Se pretende garantizar una atención neurológica en todo el país y a cualquier hora del día para final del 2010. Nuestro objetivo fue analizar la situación de la atención al ictus en España en el año 2009. Material y métodos: Se constituyó un comité de neurólogos de las diferentes CC. AA. que no hubieran participado en la ENI. Se elaboró una encuesta nacional que recogió el número de unidades de ictus (UI) y la dotación (monitorización, guardia de neurología 24h/7 días, ratio de enfermería y existencia de protocolos), ratio cama UI/100.000 habitantes, presencia de trombólisis iv, intervencionismo neurovascular (INV) y telemedicina. Resultados: Se incluyeron datos de 145 hospitales. Existen 39 UI distribuidas de un modo desigual. La relación cama de UI/número de habitantes/comunidad autónoma osciló entre 1/75.000 a 1/1.037.000 habitantes, cumpliendo el objetivo Navarra y Cantabria. Se realiza trombólisis iv en 80 hospitales, el número osciló entre 7-536 tratamientos/CC. AA. durante el año 2008. Se realiza INV en el 63% de las CC. AA., teniendo 28 centros capacitados, aunque sólo 1 la realizaba en 2009 las 24h/7 día. Existen 3 centros con telemedicina. Conclusiones: La asistencia al ictus ha mejorado en España respecto a unos años atrás, pero todavía existen importantes desigualdades por CC. AA. que deberían superarse si se quiere cumplir el objetivo de la ENI (AU)

Health care resources for stroke patients in Spain, 2010: analysis of a national survey by the Cerebrovascular Diseases Study Group.

INTRODUCTION: Stroke is currently a major social health problem. For this reason, the Spanish Ministry of Health approved the Stroke National Strategy (SNS) in 2008 to improve the prevention, treatment and rehabilitation of stroke patients. This plan intends to guarantee 24-hour, 365-days neurological assistance in the whole country by the end of 2010. Our aim was to analyse the situation of stroke assistance in Spain in 2009. MATERIAL AND METHODS: A committee of neurologists practicing in the different autonomous communities (AC), and who had not participated in the preparation of the SNS, was created. A national survey was performed including the number of stroke units (SU) and their characteristics (monitoring, 24-h/7-day on-call neurology service, nursing staff ratio and the use of protocols), bed ratio of SU/100,000 people, availability of intravenous thrombolysis therapy, neurovascular intervention (NI) and telemedicine. RESULTS: We included data from 145 hospitals. There are 39 SU in Spain, unevenly distributed. The ratio between SU bed/number of people/AC varied from 1/75,000 to 1/1,037,000 inhabitants; Navarra and Cantabria met the goal. Intravenous thrombolysis therapy is used in 80 hospitals; the number of treatments per AC was between 7 and 536 in 2008. NI was performed in the 63% of the AC, with a total of 28 qualified hospitals (although only 1 hospital performed it 24h, 7 days a week in 2009). There were 3 hospitals offering clinical telemedicine services. CONCLUSIONS: Assistance for stroke patients has improved in Spain compared to previous years, but there are still some important differences between the AC that must be eliminated to achieve the objectives of the SNS.

Cardioembolic stroke secondary to non-bacterial endocarditis in Wegener disease.

Wegener granulomatosis is a systemic vasculitis that mainly affects the upper and lower respiratory tract and the kidneys. The presence of an ischemic stroke in this disease is very rare. A 40-year-old man, smoker with cavitated lesions in both lungs, and inflammation in the nasal mucosa and vocal cords developed an ischemic stroke in the left middle cerebral artery, with the etiological study showing non-bacterial endocarditis. Non-bacterial endocarditis can appear in patients with Wegener granulomatosis, with this being the first case of this cardioembolism reported in this disease.

Patrón clínico de muerte cerebral prolongado en paciente bajo sedación barbitúrica . Respuesta / Prolonged clinical pattern of brain death in patients under barbiturate sedation. Reply

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[The normal values of the haemodynamic reserve (HR) evaluated by the CO2 test]. / Valores de normalidad de la reserva hemodinámica cerebral (RHC) evaluada mediante el test de CO2.

BACKGROUND: The cerebral haemodynamic reserve (HR) is a recognised predictive factor of brain ischaemia in subjects with carotid stenosis. Our objective is to establish normal parameters which may be used for comparison with deficit states. SUBJECTS AND METHOD: The haemodynamic reserve was calculated in healthy subjects who had no evidence of previous carotid, haematological or cardiovascular pathologies. Subjects were asked to inhale CO2. The HR was then calculated as a percentage of the increase in the mean velocity in the Silvian artery for each millimetre of mercury increase of the end-tidal CO2. The median and percentiles 5 and 95 were calculated for each hemisphere, sex and age group. RESULTS: 100 subjects were studied (45 men and 55 women, mean age 51.6 years, range 18-79). Normal HR value was defined as percentile 5, with a value of 2% for men, and 2.5% for women. The only adverse reaction was dyspnea in 2 subjects. CONCLUSIONS: Values for the haemodynamic reserve of healthy subjects, which may serve as a reference for other ultrasonography laboratories, are established from an extensive control group.

Valores de normalidad de la reserva hemodinámica cerebral (RHC) evaluada mediante el test de CO2 / The normal values of the haemodynamic reserve (HR) evaluated by the CO2 test

FUNDAMENTO: El estado de la reserva hemodinámica cerebral (RHC) en los sujetos con estenosis carotídea es un factor predictivo reconocido del riesgo de presentar isquemia cerebral ipsilateral. Nuestro objetivo es establecer valores de referencia procedentes de la población sana que puedan ser aplicados en el estudio de estos pacientes. PACIENTES Y MÉTODO: Se calculó la RHC en sujetos sanos y sin evidencia de patología carotídea, hematológica o cardiovascular previa. El método elegido fue la inhalación de CO2, expresando la RHC como el porcentaje de incremento de la velocidad media en la arteria silviana por cada milímetro de mercurio de aumento en la concentración espiratoria final de CO2 al inducir la hipercapnia. Se calcularon las medianas y percentiles 5 y 95 por hemisferio, sexo y grupo de edad. RESULTADOS: Se estudiaron 100 sujetos (45 varones y 55 mujeres, media de edad 51,6 años, rango 18-79 años). Se consideró como límite de normalidad de la RHC el percentil 5, que fue de un 2 per cent para los varones y de un 2,5 per cent para las mujeres. El único acontecimiento adverso fue sensación disneica en 2 individuos. CONCLUSIONES: Los valores presentados son los primeros parámetros de normalidad procedentes de una serie extensa de controles publicados en la bibliografía y pueden ser de referencia para otros laboratorios de ultrasonografía. (AU)

Paresia unilateral del III par craneal en un niño con hipertensión intracraneal benigna / Unilateral paresia of the third cranial nerve in a child with benign intracranial hypertension

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[Urinary incontinence in patients with acute ictus]. / Incontinencia urinaria en el paciente con ictus agudo.

This project won the "Ausonia" Incontinence First Prize among those projects submitted during 1999. This article analyzes the prevalence of urinary incontinence among patients diagnosed as suffering acute ictus after 3 months, 6 months and 12 months. The authors also investigate those factors associated with acute ictus incontinence, how incontinence influences a patient's evolution, and how incontinence affects the environment where recuperation occurs, at home or in an institution, while the patient is recovering. The results confirm that acute urinary incontinence is a forecasting factor, independent of the poor middle and long range functional prognosis, and that the potential prognosis is superior than the seriousness of the neurological deficit at the moment a patient enters a hospital.

[What sort of stroke requires patient admittance to the hospital? Factors for deciding on hospitalization]. / Cómo es el ictus del paciente que ingresamos? Factores de decisión en la hospitalización.

OBJECTIVE: To study main factors determining medical decision in admitting patients with acute cerebrovascular disease (ACVD). PATIENTS AND METHODS: This is an observational and transversal study. We analyze a hospitalary cohort made by all consecutive patients with ACVD coming to Emergency Room to Hospital Universitario de la Princesa during 1 year. Neurologist on call made on his/her own decision to admit the patient to hospital. Clinical and epidemiological characteristics of those patients admitted with those who went home are compared. RESULTS: 517 patients were studied, 147 had transient ischemic attacks (TIA) and 370 had a stroke, 12.3% TIA and 68.4% stroke patients were hospitalized. Age, Canadian Stroke Scale (CSS) on admission, subtype of stroke, atrial fibrillation and abnormal EKG, old lesions in CT, previous TIA and/or CVD, diminished conscious level, orientation and language, sphincter control and evolution time greater than 48 hours were statistically significative in deciding admission. Logistic regression analysis (84.2% total predictive value) showed independent predictive value in age, CSS, previous CVD and some subtypes of stroke (ischemic non lacunar and hemorrhage). CONCLUSIONS: We hospitalize younger patients, with a worse clinical condition and overall hemorrhagic stroke. The percentage of admissions among TIA patients is low. On the other hand, date, time and physicians-team features do not affect the percentage of admissions.

[Admission to hospital versus home care for stroke]. / Hospitalización versus asistencia domiciliaria en el ictus.

The incidence and prevalence of cerebrovascular disease is very high. This is a major sanitary problem. There are no studies comparing the management of acute stroke as inpatient or outpatient, publications about each of these items are analyzed. General Practitioners may play a very important role, not only at the first step in the attention of stroke patients. Admission criteria for stroke and hospitalization span for its different ethiopathogenic types are revised.