Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene.

BACKGROUND AND PURPOSE: Spinocerebellar ataxia type 15 (SCA15) is a degenerative, adult onset autosomal dominant cerebellar ataxia, caused almost exclusively by deletions in the inositol 1,4,5 triphosphate receptor type 1 (ITPR1) gene (ITPR1). ITPR1 mediates calcium release from the endoplasmic reticulum, and particularly abounds in Purkinje cells. It plays a pivotal role in excitatory and inhibitory actions on Purkinje cells, and alterations in their balance cause cerebellar dysfunction in ITPR1 knockout mice. To date, only two single missense mutations have been reported to cause SCA15. They were considered pathogenic because cosegregation occurred with disease, and haploinsufficiency was hypothesized as their pathogenic mechanism. METHODS: In this study, three Caucasian kindreds with different heterozygous missense variants in ITPR1 are reported. The main clinical manifestation was a slowly progressive gait ataxia with onset after 40 years of age, with chorea in two patients and hand tremor in another one, concordant with manifestations found in SCA15. RESULTS: The three missense variants identified in ITPR1 were c.1594G>A; p.(Ala532Thr) in Kindred A, c.56C>T; p.(Ala19Val) in Kindred B, and c.256G>A; p.(Ala86Thr) in Kindred C. Every variant was labelled as of unknown significance; however, each one cosegregated with disease and was predicted to be pathogenic by in silico tests. CONCLUSIONS: The three ITPR1 missense variants found in this study exhibited cosegregation with disease, a result that sustains their pathogenicity. Further studies are needed to confirm the role of missense mutations in SCA15.

Circadian rhythm of blood pressure in patients with drug-resistant mesial temporal lobe epilepsy.

OBJECTIVE: To determine whether patients with drug-resistant mesial temporal lobe epilepsy present with an alteration in the autonomic circadian regulation of blood pressure. METHODS: A prospective case‒control study was designed, with a case group comprising patients with drug-resistant mesial temporal lobe epilepsy and a control group comprising healthy volunteers. Twenty-four-hour outpatient blood pressure monitoring was performed to assess the existence of a normal (dipping) or altered (non-dipping) circadian pattern. In addition, analytical and ultrasound parameters (carotid intima-media thickness) of vascular risk and sleep quality were evaluated. RESULTS: Twenty-four subjects were recruited in each study group, amongst whom no demographic differences or history of vascular risk were observed. A higher percentage of participants with a non-dipping pattern was observed in the group of patients with epilepsy (62.5% vs. 12.5, p = 0.001). In the case group, significant differences were also observed in carotid intima-media thickness, with a greater probability of presenting with pathological values (p = 0.022). CONCLUSION: The results suggest a disorder of the central autonomic control of blood pressure in patients with drug-resistant mesial temporal lobe epilepsy, with a greater probability of developing an alteration of the circadian rhythm of blood pressure. This dysfunction may be a factor involved in the increased cardiovascular risk in this population.

Prevalence, clinical characteristics and associated factors of cardiac cephalalgia: A prospective study.

BACKGROUND: The prevalence of cardiac cephalalgia is unknown and there is limited information about its clinical features. We aimed to assess the prevalence of cardiac cephalalgia, its clinical characteristics and associated factors. METHODS: We conducted a prospective study of patients with suspected acute coronary syndrome admitted to the Cardiology Service at Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain, over a one-year period. We interviewed patients within the first 24 hours of admission using a standardized case-report form to assess the presence of headache in relation to the acute coronary syndrome and its characteristics. RESULTS: We included 438 patients, 381 with confirmed myocardial ischemia. Prevalence of cardiac cephalalgia was 14.2% (n = 54). The most common features were frontal location, pressing quality and moderate intensity. Pain referred to the jaws (aOR 2.61; 95% CI 1.33-5.12; p = 0.005), palpitations (aOR 3.65; 95% CI 1.57-8.50; p = 0.003) and circumflex coronary artery as the culprit artery for the myocardial ischemia (aOR 3.8; 95% CI 1.07-13.74; p = 0.021) were related to cardiac whereas history of hypertension was inversely associated (aOR 0.37: 95% CI 0.18-0.74; p = 0.005). CONCLUSION: The prevalence of cardiac cephalalgia was 14.2%. Our study provides valuable information about cardiac cephalalgia characteristics that suggest revision of current diagnostic criteria.

Cardiac cephalalgia: a narrative review and ICHD-3 criteria evaluation.

BACKGROUND: Cardiac cephalalgia is an unusual condition that occurs during an episode of myocardial ischemia. Information about cardiac cephalalgia is scarce and its characteristics and physiopathology remain unclear. Our aim is to provide a narrative review of clinical characteristics and physiopathology of cardiac cephalalgia and to evaluate the current diagnostic criteria.  METHODS: A search through PubMed was undertaken for studies on cardiac cephalalgia published until 20th September 2022. We summarized the literature and provide a comprehensive review of the headache characteristics and possible mechanisms. We also evaluated current International Classification of Headache Disorders third edition diagnostic criteria based on prior reported cases.  RESULTS: In total, 88 cases were found. Headache characteristics were variable. Occipital location and throbbing pain were the most frequently reported. Headache was accompanied in most cases by cardiac symptoms. Criterion B was fulfilled by 98% of cases, criterion C1 by 72%, and criteria C2a and C2b by 37 and 93.2%, respectively. Regarding headache features described in diagnostic criterion C3, 'moderate to severe intensity', 'accompanied by nausea', 'not accompanied by photophobia or phonophobia' and 'aggravated by exertion', were reported in 75, 31, 55 and 55% of cases, respectively. CONCLUSION: Cardiac cephalalgia characteristics are variable and the headache features described in the diagnostic criterion C3 might not be adequate. Given that cardiac cephalalgia can be the manifestation of a life-threatening condition it is important to increase the knowledge about this entity.

Theory of mind: a new perspective on cluster headache-a cross-sectional study.

INTRODUCTION: Theory of mind (ToM) is the ability to attribute mental states of self and others, such as beliefs (cognitive ToM) and feelings (affective ToM). Based on the role of the hypothalamus in pain and social cognition, our aim is to determine whether ToM is impaired in patients with cluster headache (CH). METHODS: Cross-sectional study in which 31 episodic cluster headache (ECH) patients outside the bout and 20 matched controls carried out social cognition and executive function tasks. Patients were recruited from an outpatient Headache Unit. RESULTS: Patients performed worse than healthy controls at cognitive ToM (t = 4.2, p < 0.001) task but not at affective ToM. Executive function was also impaired (t = 4.8, p < 0.001) and higher scores at anxiety and depression questionnaires (t = - 2.9, p = 0.006; t = - 3.6, p = 0.001) were reported. There was no correlation between ToM scores and executive function, anxiety and depression symptoms, or disease duration and severity. DISCUSSION: Our results suggest that ECH patients can perceive other people's or selves' feelings (affective ToM) but have more difficulties than healthy subjects at recognizing beliefs (cognitive ToM).

Acute migraine management in the emergency department: experience from a large Spanish tertiary hospital.

To assess the characteristics of the management of patients with migraine who present to the emergency department (ED) with a migraine attack. Retrospective, observational study analyzing demographic, clinical, diagnostic and therapeutic characteristics of patients with migraine diagnosis presenting to ED for a migraine attack between 2016 and 2019. We reviewed the clinical records of 847 cases. 82.2% were women with mean age of 34.9 years. 87.2% had episodic migraine and 12.2% chronic migraine. 62.3% (528/847) had taken analgesics before visiting the ED [non-steroidal-anti-inflammatory drugs (NSAIDs) (300/528; 56.9%) and triptans (261/528; 49.5%)]. 25.4% (215/847) received blood testing and 6.4% (55/847) received cranial CT. Medication was administered in 77.2% cases (654/847). The median time-to-treatment was 70 min (IQR 42-120). NSAIDs (81%, 530/654), antiemetics (43.1%, 282/654) and metamizole (39% 255/654) were the most used. Triptans were administered in 7 cases (1.1%) and opioids in 84 (12.8%). At discharge, preventive treatment was prescribed or modified in 8.2% of cases (69/839) and triptans were prescribed in 129 cases (15.3%). 70.5% (592/839) were instructed to follow-up with their primary care provider (PCP), 21.5% (181/839) with a general neurologist and 7.9% (66/839) with a headache specialist. The majority of migraine patients were not receiving the recommended acute migraine-specific medication, both in the outpatient and in the ED setting, being especially remarkable the rare use of triptans in the ED. Furthermore, we found an elevated use of urgent complementary tests, mainly blood tests.

Cognitive performance in patients with episodic cluster headache outside and inside the active cluster.

BACKGROUND: Previous studies have shown worse cognitive performance in cluster headache (CH) patients compared to healthy controls; however, little is known about cognitive performance in episodic CH (ECH) patients outside and inside the active cluster (AC). OBJECTIVE: Our aim is to compare cognitive function in ECH patients outside and inside the AC. METHODS: In this cross-sectional, observational study, four neuropsychological tests (Trail Making Test [TMT], Stroop Test [ST], verbal fluency [VF], and Symbol Digit Modalities Test [SDT]) were completed by 21 ECH patients at two different points in time: outside and inside the AC. We also assessed self-reported sleep quality and the presence of anxiety or depressive symptoms. Scores were compared. RESULTS: There was not any difference between the scores of the neuropsychological tests performed outside and inside the AC (TMT-A: 23 vs. 23.5; p = 0.984; TMT-B: 96.5 vs. 85.9; p = 0.104; ST word reading: 101.0 vs. 101.2; p = 0.938; ST color naming: 73.0 vs. 73.4; p = 0.858; ST color word: 44.0 vs. 46.0; p = 0.498; SDMT: 44.0 vs. 44.6; p = 0.961; VF phonemic: 29.5 vs. 30.2; p = 0.714; VF semantic: 20 vs. 21; p = 0.489). We found a worsening in the sleep quality component of the Pittsburgh Sleep Quality Index median scores in patients outside the AC (2 vs. 1; p = 0.046). CONCLUSIONS: Our findings suggest that patients with ECH have a similar cognitive performance outside and during the AC.

Epidemiología de la migraña en España y Latinoamérica / Epidemiology of migraine in Spain and Latin America

INTRODUCCIÓN: La migraña es una enfermedad muy invalidante con un gran impacto en la calidad de vida del paciente e interferencia en su esfera personal, social, laboral y familiar. Desde un punto de vista histórico, la conexión entre la Península Ibérica y Latinoamérica ha sido muy importante, por lo que parece razonable que existan paralelismos en la epidemiología de esta enfermedad, dado el papel que determinados condicionantes genéticos y relacionados con el estilo de vida tienen en su historia natural. OBJETIVO: Revisar de forma detallada los estudios epidemiológicos descriptivos de la migraña en España y América Latina. DESARROLLO: Búsqueda bibliográfica de estudios de epidemiología sobre migraña en nuestro país y en los que conforman Latinoamérica. Se analiza la población estudiada, la metodología, el cuestionario utilizado para el diagnóstico y los datos de prevalencia. Se evaluaron un total de 23 estudios. CONCLUSIONES: No todos los países cuentan con estudios epidemiológicos de migraña de base poblacional y la mayor parte de ellos se desarrollaron hace más de diez años. La metodología aplicada es, además, muy heterogénea. Los datos de prevalencia obtenidos en los estudios seleccionados, con la excepción de algunos realizados en Brasil y Perú, son muy similares a los encontrados en España

INTRODUCTION: Migraine is a very disabling disease that has a great impact on patients’ quality of life and interferes in their personal, social, work and family spheres. From a historical point of view, the connection between the Iberian Peninsula and Latin America has been very important, and so it seems reasonable to find there are parallels in the epidemiology of this disease, given the role that certain genetic and lifestyle-related determinants have in its natural history. AIM: To conduct a detailed review of the descriptive epidemiological studies of migraine in Spain and Latin America. DEVELOPMENT. Literature search of epidemiological studies on migraine in our country and in Latin America. The population studied, the methodology, the questionnaire used for diagnosis and the prevalence data were analysed. Altogether 23 studies were evaluated. CONCLUSIONS: Not all countries have population-based epidemiological studies of migraine, and most of them were conducted more than 10 years ago. Moreover, a wide range of methodologies were applied. The prevalence data obtained in the selected studies, with the exception of some conducted in Brazil and Peru, are very similar to those found in Spain

Impact of 24-Hour On-Call Shifts on Headache in Medical Residents: A Cohort Study.

BACKGROUND: During 24-hour on-call shifts medical residents are exposed to diverse circumstances such as sleep deprivation and stress. OBJECTIVE: Our aim is to assess the effect of 24-hour on-call shifts on medical residents' headache-related disability. METHODS: The Migraine Disability Assessment Scale (MIDAS), the Headache Impact Test (HIT-6), the Pittsburgh Sleep Quality Index (PSQI), and the Hospital Anxiety and Depression Scale (HADS) questionnaires were administered to medical residents who had never performed on-call shifts at baseline and 6 months after beginning 24-hour on-call shifts. Scores were compared. RESULTS: About 66 medical residents completed this study. About 21.2% (n = 14) had history of migraine, 42.4% (n = 28) had a history of tension-type headache (TTH) and 12.1% (n = 8) had a history of both migraine and TTH. Among medical residents with migraine, the median MIDAS score was significantly higher after starting 24-hour on-call shifts than at a baseline (4.0 vs 8.0; Wilcoxon, P = .001), meaning that, on average, disability increased from little or no disability, to moderate disability. No difference in HIT-6 scores was found. The median score of PSQI and HADS was higher at 6 months (PSQI: 7.0 vs 8.0; P = .003), (HADS: 5.0 vs 8.0; P < .001) for the general group. CONCLUSIONS: In medical residents with migraine, migraine-related disability increased after starting 24-hour on-call shifts. We also found a worsening in depression and anxiety symptoms and self-reported sleep quality in medical residents with and without headache history.

Encefalitis Límbica Autoinmune Asociada A Anticuerpos LGI1: Presentación De Un Caso Y Revisión De La Bibliografía / Autoimmune Limbic Encephalitis Associated With LGI1 Antibodies: Case Report And Review Of The Literature

RESUMEN Introducción: La encefalitis asociada a anticuerpos dirigidos contra la proteína 1 inactivada del glioma rica en leucina (LGI1) es una entidad poco frecuente de inicio subagudo que se caracteriza clínicamente por la presencia de alteraciones cognitivas, alteraciones conductuales y crisis epilépticas. El pronóstico en la mayoría de los casos es favorable, aunque son frecuentes los déficits amnésicos residuales. Caso clínico: Mujer de 76 años que comenzó de manera súbita con una serie de crisis tónico - clónicas generalizadas y posterior alteración del nivel de consciencia. Se inició tratamiento anticonvulsivante con discreta mejoría clínica. En la resonancia magnética realizada durante el ingreso se observó hiperintensidad en hipocampo izquierdo en secuencias T2 y T2-FLAIR. Ante la sospecha de encefalitis límbica autoinmune se inició tratamiento inmunomodulador con corticoesteriodes e inmunoglobulinas con mejoría clínica. Posteriormente se detectaron anticuerpos anti - LGI1 en líquido cefalorraquídeo. Conclusiones: La encefalitis autoinmune asociada a anticuerpos anti-LGI1 puede producir clínica neurológica variada y orden de instauración variable, incluso en ocasiones agudo. El tratamiento con inmunoterapia precoz es importante tanto para la mejoría clínica en la fase aguda como para el pronóstico a largo plazo.

Abstract Introduction: Leucine rich glioma inactivated protein 1 (LGI1) antibody encephalitis is a rare disease characterized by subacute memory impairment, behavioral disorders and epileptic seizures. Even most cases have a good outcome, residual cognitive deficits are common. Case report: 76-year-old woman who started with acute onset generalized tonic - clonic seizures and subsequent impaired level of consciousness. Antiepileptic treatment was started with slight clinical improvement. In magnetic resonance imaging performed during admission left hippocampal hyperintensity was seen in T2 and T2-FLAIR sequences. As autoimmune limbic encephalitis was suspected, immunomodulatory treatment with intravenous corticosteroids and immunoglobulins was started with clinical improvement. Afterwards, anti -LGI1 antibodies were positive in cerebrospinal fluid testing. Conclusions: anti - LGI1 antibody related encephalitis can produce different neurological manifestations and diverse onset, even acute. Early immunomodulatory treatment is important to improve both clinical manifestations and long - term outcome.

Manifestaciones neurológicas de la enfermedad de Behçet: descripción de un caso y revisión de la literatura / Neurological manifestations of Behçet's disease: Case report and literature review

La afectación neurológica en la enfermedad de Behçet es poco frecuente, especialmente como comienzo de la enfermedad. Puede presentarse con alteraciones parenquimatosas o con daño de las estructuras vasculares en su forma extraparenquimatosa. Es excepcional que ambos tipos de manifestaciones coexistan en un mismo paciente. Presentamos el caso de una paciente de 32 años, con antecedentes de trombosis venosa profunda, que acudió a nuestro centro por cuadro de cefalea holocraneal, apatía, aftas orales y genitales. La resonancia magnética cerebral mostró lesiones de hiperseñal en ganglios de la base y sustancia blanca silviana, y el estudio vascular trombosis venosa de seno transverso izquierdo. Tras confirmarse el diagnóstico de enfermedad de Behçet con afectación cerebral intra y extraparenquimatosa, se inició tratamiento inmunosupresor y corticoideo con remisión de la sintomatología

Neurological involvement in Behçet's disease is rare, especially at the onset. It can present in the form of parenchymal changes or as damage to the vascular structures in its nonparenchymal form. The coexistence of both kinds of manifestations in the same patient is exceptional. We report the case of a 32-year-old patient with a history of deep venous thrombosis, who was being treated for holocranial headache, apathy, and oral and genital ulcers. Brain magnetic resonance imaging showed hyperintense lesions in the basal ganglia and white matter, and the vascular study evidenced venous thrombosis of the left transverse sinus. After confirming the diagnosis of Behçet's disease with parenchymal and nonparenchymal cerebral involvement, immunosuppressive and corticosteroid therapy was started, resulting in the remission of the symptoms

Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3.

•We present a family that includes members with phenotypes of generalized epilepsy and limb-girdle muscular dystrophy.•Subjects with heterozygous mutation developed epilepsy; a subject with homozygous mutation developed limb-girdle dystrophy.•Mutations in CAPN3 may play a role in the complex genetics of genetic generalized epilepsies.

Cognitive Performance in Episodic Cluster Headache.

BACKGROUND: Cluster headache is one of the most disabling of all headache conditions. Although some studies have investigated the psychological profile of patients with cluster headache, research on its impact on cognitive function in patients with episodic cluster headache outside the cluster bout is scant. METHODS: Cross-sectional study to evaluate various aspects of neuropsychological assessment and cognitive function including working memory, selective attention, verbal fluency, and executive function in 40 patients with episodic cluster headache. The patients were compared with 40 age-, gender-, and level of education-matched healthy controls. RESULTS: Episodic cluster headache patients performed significantly worse than healthy controls on all cognitive tests, except for the Interference Score (P = 0.281). They had significantly higher Hospital Anxiety Scale scores (P = 0.002). However, we found no significant association between cognitive performance, anxiety, sleep quality, and disease duration. CONCLUSIONS: Patients with episodic cluster headache outside the bout showed worse executive functioning, working memory, language, and selective attention compared with healthy controls, regardless of the duration of disease or sleep quality.

Neurological manifestations of Behçet's disease: Case report and literature review. / Manifestaciones neurológicas de la enfermedad de Behçet: descripción de un caso y revisión de la literatura.

Neurological involvement in Behçet's disease is rare, especially at the onset. It can present in the form of parenchymal changes or as damage to the vascular structures in its nonparenchymal form. The coexistence of both kinds of manifestations in the same patient is exceptional. We report the case of a 32-year-old patient with a history of deep venous thrombosis, who was being treated for holocranial headache, apathy, and oral and genital ulcers. Brain magnetic resonance imaging showed hyperintense lesions in the basal ganglia and white matter, and the vascular study evidenced venous thrombosis of the left transverse sinus. After confirming the diagnosis of Behçet's disease with parenchymal and nonparenchymal cerebral involvement, immunosuppressive and corticosteroid therapy was started, resulting in the remission of the symptoms.

Distonía laríngea: nuevas formas de administración terapéutica de toxina botulínica por vía directa / Laryngeal dystonia: novel forms of therapeutic administration of botulinum toxin by direct routes

Objetivo. Describir nuestra experiencia en el tratamiento de la distonía laríngea (en abducción y aducción), destacando los aspectos técnicos (procedimiento de abordaje, dosis y tipo de toxina botulínica de tipo A utilizada), así como la respuesta al tratamiento y los posibles efectos adversos. Pacientes y métodos. Estudio descriptivo transversal de una muestra de pacientes con distonía laríngea tratados mediante administración transoral de onabotulinumtoxina o incobotulinumtoxina A durante un período de 10 años (2007-2017). Se recogen las variables demográficas y clínicas, la respuesta al tratamiento (a partir de una escala de autoevaluación), la duración de éste y la aparición de efectos adversos. Resultados. Tamaño muestral: 15 pacientes (11 mujeres; edad media: 44,06 años) con distonía laríngea (tiempo medio de evolución de 40 meses; 12 pacientes con distonía en aducción) y 174 administraciones (92% incobotulinumtoxina A; dosis media de 5 U en cada cuerda vocal). La duración media del procedimiento fue de 11,7 minutos. La respuesta fue notable en el 31% de los procedimientos y alta en el 57,5%. Se registraron efectos adversos en el 14,4% de los procedimientos, siempre de carácter leve y transitorio, con predominio de la disfagia y la disfonía. Conclusión. En nuestra experiencia, la administración transoral de toxina botulínica de tipo A como tratamiento de la distonía laríngea ha demostrado ser una técnica sencilla, rápida, eficaz y segura

Aim. To describe our experience in the treatment of laryngeal dystonia (in abduction and adduction), with special emphasis given to the technical aspects (approach procedure, dosage and type of botulinum toxin type A used), as well as treatment response and possible side effects. Patientes and Methods: We conducted a cross-sectional descriptive study of a sample of patients with laryngeal dystonia treated by means of transoral administration of onabotulinumtoxinA or incobotulinumtoxinA over a period of 10 years (2007-2017). Data collected include demographic and clinical variables, treatment response (based on a self-rating scale), the duration of treatment and the appearance of side effects. Results. Sample size: 15 patients (11 women; mean age: 44.06 years) with laryngeal dystonia (mean time since onset of 40 months; 12 patients with dystonia in adduction) and 174 administrations (92% incobotulinumtoxinA; average dosage of 5 U in each vocal cord). The procedure took an average of 11.7 minutes to perform. Response was good in 31% of the procedures and very good in 57.5%. Side effects were recorded in 14.4% of the procedures, although always mild and transitory, with a predominance of dysphagia and dysphonia. CONCLUSION. In our experience, transoral administration of botulinum toxin type A to treat laryngeal dystonia has proved to be a simple, quick, effective and safe technique

El hipotálamo en la enfermedad de Huntington / The hypothalamus in Huntington's disease

Introducción. Los trastornos del sueño y del ritmo circadiano, la sintomatología autonómica y las alteraciones neuroendocrinas son características frecuentes de la enfermedad de Huntington, y algunos de ellos se presentan en estadios tempranos de ella. Es plausible pensar que algunos de estos rasgos podrían ser el resultado de una disfunción hipotalámica del centro regulador del sueño, el metabolismo y el sistema nervioso autónomo. Objetivo. Se exponen las evidencias disponibles hasta el momento actual que sugieren una afectación hipotalámica en la enfermedad de Huntington. Desarrollo. Investigaciones histopatológicas, hormonales y de neuroimagen relacionan esta región cerebral con la enfermedad de Huntington. Se resumen los hallazgos, tanto experimentales como en modelos animales, o en estudios realizados con pacientes. Asimismo, se describen las repercusiones clínicas (alteraciones del sueño y del ritmo circadiano, la patología psiquiátrica y cognitiva, y la clínica vinculada con disfunción autonómica) secundarias a una posible afectación hipotalámica en esta enfermedad. Conclusiones. El hipotálamo se comporta como un centro integrador de las funciones neuroendocrinas y autonómicas, y presenta un papel no desdeñable sobre la sintomatología cognitiva y conductual. Alteraciones al respecto se han destacado en la enfermedad de Huntington. Son necesarios posteriores estudios para aclarar el papel y el alcance de esta región cerebral en esta enfermedad (AU)

Introduction. Disorders affecting sleep and the circadian rhythm, autonomic clinical signs and symptoms, and neuroendocrine alterations are frequent characteristics in Huntington's disease, some of which present in early stages of the disease. It is reasonable to think that some of these features could result from a hypothalamic dysfunction affecting the centre regulating sleep, metabolism and the autonomic nervous system. Aim. The study presents the evidence available to date that suggests the involvement of a hypothal mic disorder in Huntington's disease. Development. Histopathological, hormonal and neuroimaging research relates this area of the brain to Huntington's disease. The experimental findings and those obtained with animal models or in studies conducted with patients are summarised. Likewise, the clinical repercussions (sleep and circadian rhythm disorders, psychiatric and cognitive pathologies, and the clinical signs and symptoms linked to autonomic dysfunction) secondary to possible involvement of the hypothalamus in this disease are also described. Conclusions. The hypothalamus acts as a centre that integrates the neuroendocrine and autonomic functions, and plays a significant role in cognitive and behavioural signs and symptoms. Disorders of this type have been highlighted in Huntington's disease. Further studies are needed to elucidate the role and scope of this region of the brain in this disease (AU)

Circadian rhythm and autonomic dysfunction in presymptomatic and early Huntington's disease.

INTRODUCTION: Sleep and circadian rhythm disturbances are common in patients with neurodegenerative diseases such as Huntington's disease (HD). The aim of this study was to evaluate variability in circadian blood pressure (BP) to determine the association between abnormal circadian BP and sleep quality in patients with HD. METHODS: Cross-sectional, multicenter study of 38 HD mutation carriers (23 premanifest and 15 early stage patients) who were compared to 38 age- and sex-matched controls. BP was evaluated by ambulatory blood pressure monitoring (ABPM). Based on the percentage decrease in nocturnal BP, subjects were classified as either dippers (≥10%) or non-dippers (<10%). Sleep quality and daytime sleepiness were measured, respectively, using the Pittsburgh Sleep Quality Index (PSQI) and the Epworth Daytime Sleepiness Scale (ESS) and the scores on these indices were correlated with the ABPM findings. RESULTS: Sixty-three percent HD mutation carriers were non-dippers (86.7% of the symptomatic and 47.8% of the premanifest patients) versus 23.7% of controls (p = 0.001). In the HD group, sleep quality was significantly more impaired (PSQI>5) (p = 0.016) with more excessive daytime sleepiness (ESS>9) (p = 0.001) than in the control group. Nocturnal non-dipping was associated with worse sleep quality in patients (p = 0.011) but not in controls. CONCLUSION: These results show that patients with HD present early disturbances in the circadian rhythm of BP and that this altered nocturnal BP is associated with poor sleep quality. These findings suggest the potential role of subtle hypothalamic dysfunction in this population.

Conocimiento de la enfermedad vascular cerebral en la población de Zaragoza / Knowledge of cerebrovascular disease in the population of Zaragoza

Introducción. El ictus es una de las principales causas de invalidez y mortalidad en nuestra sociedad, con importantes repercusiones socioeconómicas y sanitarias. La asistencia precoz puede mejorar el pronóstico de los pacientes. Actualmente, existen tratamientos en fase aguda, que consiguen reperfundir el tejido isquémico en riesgo y revertir la sintomatología, pero son pocos los pacientes que se benefician, por el retraso en su atención, debido a la falta de reconocimiento de los síntomas y la escasa percepción de gravedad. Objetivo. Analizar el conocimiento de la población de nuestra área de salud sobre el ictus. Sujetos y métodos. La muestra analizada ha sido la población del sector III de la provincia de Zaragoza, con selección aleatoria. La herramienta utilizada ha sido una encuesta telefónica estructurada (total de 583). Resultados. Un 63,5% de los encuestados desconoce los síntomas del ictus, y un 48%, los factores de riesgo vascular. Sólo un 9% reconoce al menos dos síntomas y dos factores de riesgo. En cuanto a la actitud, un 56% actuaría correctamente frente a un 44% que no. El análisis multivariante mostró que los factores más relacionados con el conocimiento fueron el nivel cultural y la edad joven. Vivir en un pueblo y sexo femenino se relacionaron con la mejor actitud. Conclusiones. El conocimiento del ictus es escaso, con una baja percepción de urgencia. Los factores que implican un mejor conocimiento son la edad joven y el nivel cultural alto (AU)

Introduction. Acute cerebrovascular disease is a major cause of disability and mortality, with important socio-economic and health impacts. Early stroke care can reduce mortality and improve prognosis. Right now, we can apply treatments in the acute phase, with capacity to reverse the symptoms, but few patients who benefit not reach the hospital soon. One reason for this delay is the lack of recognition of symptoms and poor perception of gravity. Aim. To find out the knowledge of the public about the stroke. Subjects and methods. The sample analyzed was the population of Sector III of Zaragoza, with random selection. The tool used was a telephone survey structured. We analyzed 583 surveys. Results. 63.5% of respondents did not know any symptoms of stroke. 48% do not know any vascular risk factor. Only 9% recognized at least two symptoms and two risk factors. Regarding the attitude, 56% act properly against 44% who do not. Multivariate analysis showed that the factors more related to knowledge are the cultural level and young age. Living in town, and female, they are associated with the best attitude. Conclusions. Knowledge about stroke is poor, with a low sense of urgency. The factors most associated with the best knowledge are young age and cultural level (AU)

Neuralgia occipital como primer síntoma de un hepatocarcinoma / Occipital neuralgia as the first symptom of a hepatocarcinoma

No disponible

Neuropatía axonal aguda sensitivo-motora (síndrome de Guillain-Barré) tras vertebroplastia / Acute sensory-motor axonal neuropathy (Guillain-Barre syndrome) following vertebroplasty

No disponible