Revista de neurologia最新文献

Introduction: We analysed a series of patients with sporadic Creutzfeldt-Jakob disease in our setting.

Aim: The aim of this study is to describe the characteristics of our sample using the new diagnostic tools based on the most recently published criteria.

Material and methods: A descriptive, retrospective study was conducted using a digitalised hospital register. We identified 20 cases of the sporadic type, in the period 2012-2022: eight with a pathological diagnosis and 12 with high probability. The variables sex, age at onset, time of evolution, clinical phenotype, magnetic resonance imaging (MRI) findings, 14.3.3 protein, electroencephalogram (EEG), real-time quaking-induced prion protein conversion (RT-QuIC), autopsy, pathological phenotype and genetic diagnosis were recorded.

Results: Of those affected, 50% were men and 50%, women, with an age at onset of 67 years (30-83) and a mean survival time of eight months (1-11 months). Cognitive impairment was the most frequent onset symptom, followed by gait ataxia. All MRI scans with long time-lapse sequences (FLAIR and DWI) were pathological, and the pattern of diffuse cortical and basal ganglia involvement was the most frequent. Altogether, 55% of the sample had an EEG with characteristic triphasic complexes. Sixty-five per cent were positive for 14.3.3 protein in cerebrospinal fluid. Four RT QuIC studies were carried out (in 2020) and all were positive. In 40% of them a confirmatory autopsy was performed, with the MM/MV1 pattern being the most frequent.

Conclusions: MRI with DWI sequences is a particularly sensitive test for the diagnosis of the disease, although its sensitivity decreases in the early stages. The high specificity and sensitivity of RT-QuIC, together with a characteristic clinical diagnosis and radiological pattern, are proposed as an alternative to the pathological definitive diagnosis.

Introduction: Epilepsy is a very common neurological disease with high morbidity and mortality. Drug-resistant epilepsy (DRE) poses a major therapeutic challenge, even for experts in the field. Despite this, access to advanced resources for this type of patient remains difficult and unequal. The aim of this study is to analyse inequality in a population belonging to a first level hospital.

Patients and methods: An analytical observational cross-sectional study was conducted on epileptic patients attending neurology consultations in Area IX of the Murcian Health Service. Demographic, clinical, therapeutic, prognostic and equity variables are described, and significant differences between different subgroups are analysed.

Results: The study included 68 patients with a mean age of 42.93 years. Focal epilepsy was the main type (64.7%), and the most commonly used drugs were levetiracetam (33.8%), valproic acid (27.9%) and lamotrigine (22.1%). DRE occurred in 18 patients (26.5% of the total) and only four were under active follow-up in an epilepsy unit, meaning that 71% did not have access to a necessary resource (advanced therapeutic gap).

Conclusions: This study demonstrates that epilepsy inequality continues to be a problem, especially in certain geographical areas, with a lack of access to advanced care for patients who need it most. The solution can be achieved by increasing human and material resources to improve overall patient care, thus strengthening both referral hospitals and epilepsy units.

The detection by biomarkers of the pathophysiological and molecular processes involved in misfolding protein diseases making it possible to delineate the natural history of these processes. The great majority of protein misfolding diseases have a prolonged preclinical phase, in which the biological changes are patent. The clinical manifestations (i.e., phenotypes) do not have a univocal correspondence with the underlying pathology, despite the fact that pathological eponyms have been used for the description of the clinical syndromes, which has favored diagnostic inaccuracy. In order to perform an adequate clinical management, we must know the 3 planes that currently define the most common neurodegenerative processes. Diagnostic accuracy will be a prerequisite for new therapies aimed at modifying the course of brain protein misfolding diseases.

Introduction: The incidence of compulsive buying has increased over the last two decades and it has a substantial negative impact on consumers' overall functioning. However, despite its clinical relevance, the neuropsychological mechanisms and neural correlates underlying this phenomenon are still unknown. Also, compulsive buying behaviour remains unrecognised as a diagnostic category belonging to addictive disorders.

Aim: The aim of the study is to systematically analyse the available empirical evidence on compulsive buying in order to identify the underlying neuropsychological variables and neural correlates.

Materials and methods: PubMed, Scopus and ScienceDirect were searched for the mechanisms behind this phenomenon.

Results: The results show only 11 recent studies that investigate these mechanisms. In addition, the protocol of this systematic review was pre-registered in the international PROSPERO register (registration number CRD42023427497).

Conclusions: The studies reviewed refer to impaired executive functions, decision-making and sensitivity to rewards, and a tendency to reactivity to purchase-related cues. This pattern of behaviour appears to involve a loss of behavioural control linked to dysregulation of structures such as the striatum and frontal regions. The results obtained are examined and similarities with the mechanisms underlying other addictions are discussed.

Introduction: Fingolimod, a sphingosine-1-phosphate receptor agonist used for the treatment of multiple sclerosis (MS). Our goal was to assess the impact of fingolimod on quality of life in patients with relapsing-remitting multiple sclerosis (RRMS) after 2 years of treatment in this real-world study.

Patients and methods: This was a 2-year, prospective, observational study conducted in Bulgaria in RRMS patients treated with fingolimod. Quality of life was assessed using the Bulgarian-language version of the MSQoL-54 scale. The primary endpoint was the change from baseline in the MSQoL-54 score after 2 years of treatment. Secondary endpoints included the change from baseline in the MSQoL-54 score after one year of treatment, furthermore the assessment of depression level using the Hamilton D-17 score.

Results: A total of 87 eligible patients were included in the study with a mean age of 38.7 ± 8.45 years. The median Expanded Disability Status Scale (EDSS) score was 3.5 points. We found statistically significant improvement in 10 subscales at month 12 and in seven subscales at month 24. The mental health composite score increased from 64.0 ± 16.69 points to 67.5 ± 15.94 points at month 24 (p = 0.012). The physical health composite score increased from 61.7 ± 17.61 to 66.3 ± 16.70 (p = 0.001). Depression level measured by the HAM-D17 decreased significantly by month 12 and month 24. The EDSS score decreased or remained stable in more than half of the patients (61.6%). We detected better quality of life in patients with a lower EDSS score.

Conclusions: Quality of life scores and the depression level are improved in RRMS patients treated with fingolimod over 2 years in real-life setting.

Introduction: Vertebrobasilar stroke can be a diagnostic challenge. Bilateral vocal cord paralysis is very rare as a manifestation of acute stroke, yet it is potentially life-threatening because of the possibility of acute airway obstruction. No cases of bilateral vocal cord paralysis have been reported as a presenting symptom of acute stroke of mixed central and peripheral neurological aetiology.

Case report: An 88-year-old woman with dysphonia resulting from paralysis of the right vocal cord following a thyroidectomy presented with sudden onset of vertigo, dysmetria and mild dysarthria (National Institutes of Health Stroke Scale: 2) associated with arterial hypertension. An urgent brain computed tomography (CT) scan evidenced distal occlusive thrombosis of the left vertebral artery without established ischaemia. Due to the improvement of symptoms achieved with control of her blood pressure, revascularisation therapy was not performed. Four hours later, the patient suddenly developed inspiratory stridor and severe respiratory failure due to bilateral vocal cord paralysis with complete airway obstruction. An urgent tracheotomy was performed, which resulted in an improvement in her breathing. A control brain CT scan performed at 24 hours showed established infarction in the left hemicerebellum and lateral medullary region, consistent with the territory of the left posterior inferior cerebellar artery.

Conclusion: Our case illustrates the possibility of the rare occurrence of acute bilateral vocal cord paralysis in the context of acute stroke in conjunction with chronic peripheral involvement of the recurrent laryngeal nerve. Although exceptional, it exemplifies the potential risk associated with vertebrobasilar strokes. A more aggressive reperfusion therapy may be appropriate in these cases, despite an initially mild deficit, because of the possibility of progression to life-threatening complications.

Introduction: Moyamoya angiopathy is a vasculopathy caused by stenosis/occlusion of one or both intracranial internal carotid arteries. Although more common in Eastern countries, its prevalence is increasing in the West. An angioresonance or angiography is essential for its diagnosis. There are two options for treatment: conservative (medical) treatment or surgical bypass techniques.

Patients and methods: Nineteen patients were selected using International Classification of Diseases codes, and their demographic characteristics and health outcomes were studied. They were administered a scale for the screening of anxious-depressive syndrome (the Hospital Anxiety and Depression Scale - HADS) and another scale for self-perceived quality of life (SF-36). After applying the inclusion/exclusion criteria, eight of these patients were studied.

Results: Nineteen patients were studied (52.63% male, 57.89% European) and the Aragonese prevalence was estimated at 1.37/100,000 inhabitants. The most frequent clinical presentation was ischaemic stroke (73.68%). The HADS detected two positive cases of anxiety and one case of depression. According to the SF-36, the worst self-rated aspects were vitality (median: 35/100) and general health (median: 42.5/100), while the best rated was physical function (mean: 93.57/100).

Conclusions: This is the Spanish series with the highest prevalence and the only one that addresses self-perceived health and screening of the anxious-depressive syndrome. Further research is needed to address this entity and determine its true prevalence in the West.

Introduction: Given the immaturity of the newborn, neonatal seizures are a diagnostic challenge. Most of them are secondary to an acute event. A small percentage constitute the onset of epilepsy.

Aims: The aim was to analyse neonates with a diagnosis of seizures admitted to a tertiary hospital between November 2009 and May 2021, and their subsequent progression to epilepsy.

Material and methods: A retrospective observational study was carried out using the hospital database. Information was collected on neonates with a discharge diagnosis of 'seizures' or 'moderate or severe hypoxic-ischaemic encephalopathy'. Different variables were analysed: aetiology of the seizures, type, persistence over time, treatment and electroclinical correlates.

Results: Of 165 patients, 55 presented neonatal seizures. As regards aetiology, 43 patients (78%) had seizures secondary to an acute event, of which 19 (34%) were hypoxic-ischaemic encephalopathies, and 22 (40%) had other acute disorders. Genetic alteration was found in six of them (11%). Thirteen patients (24%) progressed to subsequent epilepsy, of whom seven had symptomatic epilepsy, with a period of latency after the acute event in two patients. Six patients had neonatal epilepsy with unprovoked seizures. Twenty-two (62%) showed electroclinical correlates. All of the confirmed crises (100%) were focal. All the seizures were treated. The drug of choice was phenobarbital.

Conclusions: Diagnosis of neonatal seizures requires high clinical suspicion and electroclinical confirmation. Most of them progress favourably, but a percentage constitute the onset of epilepsy, the identification of which will determine their therapeutic management.

Introduction: Headache is a frequent symptom at the acute phase of coronavirus disease 2019 (COVID-19) and also one of the most frequent adverse effects following vaccination. In both cases, headache pathophysiology seems linked to the host immune response and could have similarities. We aimed to compare the clinical phenotype and the frequency and associated onset symptoms in patients with COVID-19 related-headache and COVID-19 vaccine related-headache.

Subjects and methods: A case-control study was conducted. Patients with confirmed COVID-19 infection and COVID-19-vaccine recipients who experienced new-onset headache were included. A standardised questionnaire was administered, including demographic variables, prior history of headaches, associated symptoms and headache-related variables. Both groups were matched for age, sex, and prior history of headache. A multivariate regression analysis was performed.

Results: A total of 238 patients fulfilled eligibility criteria (143 patients with COVID-19 related-headache and 95 subjects experiencing COVID-19 vaccine related-headache). Patients with COVID-19 related-headache exhibited a higher frequency of arthralgia, diarrhoea, dyspnoea, chest pain, expectoration, anosmia, myalgia, odynophagia, rhinorrhoea, cough, and dysgeusia. Further, patients with COVID-19 related-headache had a more prolonged daily duration of headache and described the headache as the worst headache ever experienced. Patients with COVID-19 vaccine-related headache, experienced more frequently pain in the parietal region, phonophobia, and worsening of the headache by head movements or eye movements.

Conclusion: Headache caused by SARS-CoV-2 infection and COVID-19 vaccination related-headache have more similarities than differences, supporting a shared pathophysiology, and the activation of the innate immune response. The main differences were related to associated symptoms.