Neurologia最新文献

Introduction: Motor neuron diseases (MND) encompass conditions like amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS), marked by progressive degeneration of upper and/or lower motor neurons. The identification of specific biomarkers is crucial to reduce diagnostic delays.

Methods: This study presents three clinical cases evaluated at the Hospital Universitario 12 de Octubre, where the motor band sign on brain 18 F-FDG PET/CT aided the diagnosis of MND. The studies were conducted using a SIEMENS Biograph True Point 6, with a review of relevant literature.

Results: In all three patients, PET/CT revealed hypometabolism in the prerolandic region, indicative of the motor band sign, contributing to the diagnosis of PLS or ALS.

Discussion: The motor band sign on 18F-FDG PET/CT emerges as a potential marker of upper motor neuron involvement, though the heterogeneity of MNDs and variability across studies call for further research to establish its specificity and sensitivity.

Conclusion: The motor band sign on 18F-FDG PET/CT is a promising biomarker for MNDs, although further studies are required to confirm its diagnostic validity.

Pompe disease or glycogenosis type II is a rare disease caused by mutations in the GAA gene that leads to deficiency of the acid alpha-1,4-glucosidase enzyme. As a result of the enzymatic defect, a progressive accumulation of intralysosomal glycogen occurs in various tissues, causing smooth, cardiac and skeletal muscle involvement. When the age of onset of the disease is after the first year of life, it is called late-onset Pompe disease (LOPD). Weakness of the axial and proximal waist muscles and respiratory dysfunction are common manifestations. Enzyme replacement therapy (ERT) has been available for more than 15 years and is the standard treatment. This therapy changes the course of the disease, although the effectiveness of the treatment reduces over time. New enzyme therapies represent new treatment opportunities for patients with LOPD. Here we present updated recommendations from a group of experts in Pompe disease on the diagnosis, treatment and follow-up of LOPD patients, with the aim of providing a guide for the clinical management of the disease.

Introduction: Balance assessment measures are often validated in the general population or older adults, but rarely in individuals with neurological impairment. This study reports the transcultural adaption and validation of the Balance Evaluation Systems Test (BESTest) and its short forms, the Mini-BESTest and Brief-BESTest, in a Spanish population with acquired brain injury (ABI).

Methods: The study was conducted in 3 stages: 1) translation and adaptation of the tests, 2) pilot test of the adapted version, and 3) assessment of psychometric properties (reliability and validity). The Berg Balance Scale was used as the criterion variable; construct validity was assessed by exploratory factor analysis of all items of each test; and reliability was tested by calculating Cronbach's alpha and the intra-class correlation coefficient.

Results: A total of 108 patients with subacute and chronic ABI participated in the study. Psychometric analysis of the 3 tests demonstrated good convergent validity, internal consistency, inter-rater reliability (0.998-0.969), and test-retest reliability (0.985-0.989). Convergent validity was observed with the Berg Balance Scale (r = 0.901, P < .001; r = 0.977, P < .001; r = 0.852, P < .001, respectively), as well as other gait and balance scales. No ceiling or floor effects were found in the adapted versions of the BESTest, Mini-BESTest, and Brief-BESTest for the Spanish population with ABI.

Conclusions: All 3 tests are reliable and valid, with BESTest being the best option for assessing balance in people with ABI, both in the subacute and chronic phase, as it includes domains that other tools do not assess.

Introduction: With the aim of redesigning the role of promoting and fostering the progress of neurology and anticipating the social, scientific, health, and economic context provided by the development of our specialty, the Spanish Society of Neurology has decided to formalise its direction in a Strategic Plan, the elements of which are shared in this article.

Methods: The development of the Plan has been structured in 3 phases: internal and external analysis, strategic projection, and formalisation of the plan. A qualitative and strategic analysis approach has been incorporated, through surveys, interviews, and participatory sessions with the SEN, with the participation of approximately 500 members and other professionals in the field. The current situation of the SEN and its environment has been explicitly stated, the corporate identity has been defined, and strengths, weaknesses, threats, and opportunities have been analysed using the SWOT/CAME matrix. Finally, an Action Plan has been developed that identifies strategic pillars, objectives, and actions to be implemented.

Results: Five Strategic Pillars have been identified (the SEN's Image; Service Portfolio; Participatory Spaces; Digital Transformation; Results-Oriented Management), comprising a total of 23 strategic objectives. A total of 80 actions are proposed to achieve the Plan's objectives by 2025.

Conclusions: The deployment of the Strategic Plan involves having a backbone instrument for the strategic lines that are expected to favour the position of the SEN as a key player within the specialty of neurology in the face of current and future challenges.

Introduction: Absence seizures due to secondary bilateral synchrony may be a manifestation of frontal seizures, indistinguishable from primary absence epilepsy (PAE), with a different prognosis and control. There are few epidemiological studies on frontal absences (FAE) in the group of absence epilepsy (AE) in children.

Objective: To describe the epidemiology of FAE in childhood and compare the characteristics, clinical evolution, and pharmacological response with PAE.

Patients and method: Retrospective study of cases with AE in children under 14 years of age from 2013 to 2022 in a tertiary hospital. Demographic variables, number, duration and type of associated seizures, frontal EEG focality with and without relation to generalized discharge, pharmacological response and neuroimaging were comparatively studied.

Results: 94 patients with a median age of 8.6 years (6-10.1 years; 49M/45H) with AE were included. 84% presented exclusively absence seizures. Hyperventilation induced seizures in 94.2%; photoparoxysms present in 5.3%. They showed EEG focus, 63/94 and in 45/94 it was frontal. In 14/94 (14.8%) the frontal focality preceded the critical spike-wave discharge. The bivariate analysis did not show significant differences in age, time until the consultation, psychomotor development/behavior alteration, association of other types of seizures and triggers. The number of absences/days was significantly lower in the EAFs (p = 0.004) and the need for combination therapy was greater in the bivariate (p = 0.005) and multivariate (p = 0.035) analysis.

Conclusions: FAE represents a significant percentage of AE with seizures of identical morphology, age, and duration, although with fewer seizures/day and a worse response to treatment.