Neurology International最新文献

Background/objectives: ZNF711(Zinc finger protein 711) encodes a zinc finger protein of currently undefined function, located on the X chromosome. Current knowledge includes a limited number of case reports where this gene has been exclusively associated with X-linked intellectual disability (XLID). As far as we are aware, we report the first cases of epilepsy associated with this particular variant. Our aim is to further delineate the phenotypic spectrum of ZNF711 gene pathogenic variants, adding clinical features to this rare condition, following a genotype-first approach.

Case presentation: We describe the familiar case of two male siblings presenting with moderate intellectual disability (ID), language delay, and motor stereotypies. Additionally, they experienced generalized tonic-clonic seizures (GTCSs) and myoclonic seizures with interictal electroencephalographic abnormalities. Both children underwent various genetic testing and counselling, including an extended next-generation sequencing (NGS) panel, revealing a hemizygous c.657C > G pathogenic variant in the ZNF711 gene from maternal inheritance.

Conclusions: This case expands the clinical range of ZNF711 variants by highlighting epilepsy as a potential comorbidity and suggesting other possible causal candidates for generalized epilepsy. Moreover, it emphasizes the need for further research into the phenotypic spectrum associated with this variant.

Huntington's disease (HD) is a progressive neurodegenerative disorder for which, until now, only symptomatic treatment has been available. Lately, there have been multiple ongoing clinical trials targeting therapeutic agents for preventing disease onset or slowing disease progression in HD. These studies are in constant need of reliable biomarkers for neurodegeneration in HD. In recent years, retinal biomarkers have attracted significant attention in neurodegenerative disorders. Likewise, optical coherence tomography (OCT) is being evaluated as a potential biomarker in HD. In this article, we review the existing literature on OCT as a biomarker for neurodegeneration in HD.

Background: Central facial palsy (CFP), resulting from upper motor neuron lesions in the corticofacial pathway, is traditionally characterized by the sparing of the upper facial muscles. However, reports of upper facial weakness in CFP due to acute ischemic stroke have challenged this long-held assumption. This study aimed to determine the prevalence of upper facial weakness in CFP and identify its associated clinical factors.

Methods: In this cross-sectional study, we evaluated consecutive patients with acute ischemic stroke admitted to a university hospital in Thailand from January 2022 to June 2023. Full-face video recordings were analyzed using the Sunnybrook Facial Grading System. Upper facial weakness was defined as asymmetry in at least one upper facial expression. Multivariable logistic regression was performed to identify factors associated with upper facial weakness.

Results: Of 108 patients with acute ischemic stroke, 92 had CFP, and among these, 70 (76%) demonstrated upper facial weakness. Tight eye closure (force and wrinkle formation, both 42%) was the most sensitive indicator for detecting upper facial weakness. Greater stroke severity, as reflected by higher NIHSS scores (adjusted odds ratio [aOR], 1.42; 95% CI 1.07-1.88) and the presence of lower facial weakness (aOR, 6.56; 95% CI 1.85-23.29) were significantly associated with upper facial involvement. Although upper facial weakness was generally milder than lower facial weakness, its severity correlated with increasing lower facial asymmetry during movement.

Conclusions: Contrary to traditional teaching, upper facial weakness is common in CFP due to acute ischemic stroke. The severity of stroke and the presence of lower facial weakness are key predictors of upper facial involvement. These findings underscore the need for clinicians to reconsider the diagnostic paradigm, recognizing that upper facial weakness can occur in CFP. Enhanced awareness may improve diagnostic accuracy, inform treatment decisions, and ultimately lead to better patient outcomes.

Stage 1 Plus is defined here as a naïve, previously untreated, status epilepticus (SE) that is probably refractory to Benzodiazepines (BDZ). These cases include not only prolonged SE as previously proposed by the author (SE lasting > 10 min) but also other cases notoriously associated with BDZ refractoriness such as the absence of prominent motor phenomena and acute etiology (especially primary central nervous system etiology). Interestingly, the absence of prominent motor phenomena as is the case of non convulsive SE might implicitly fall in the category of prolonged SE due to the delay in recognition and treatment. Future studies should help identify other factors associated with BDZ refractoriness, therefore widening the definition of Stage 1 Plus. The appropriate timing for defining prolonged SE may also differ depending on different etiology. Consequently, in future tailored models of SE, the definition of prolonged SE could be enhanced by defining it for a longer duration than Tx, a time point that changes based on different etiologies (x), Tx being much shorter than 10 min in acute etiologies. These cases of naïve probably BDZ refractory SE (Stage 1 Plus) might require a different approach: combined polytherapy from the start. The objective of this review is to provide pathophysiological and pre-clinical evidence, mostly from animal studies, for the different approach of combined polytherapy from the start for those cases of SE falling in the definition of Stage 1 Plus.

Background/objectives: Post-stroke hemiparetic gait often presents with asymmetric patterns to compensate for stability deficits. This study examines gait differences in chronic stroke patients with spastic hemiparesis based on initial foot contact type-forefoot versus rearfoot.

Methods: Thirty-four independently walking spastic hemiparetic patients were retrospectively analyzed. Using 3D gait analysis, patients were categorized by initial contact type. Spatiotemporal descriptors, joint kinematics, kinetics, and EMG patterns were compared across groups.

Results: Patients with rearfoot initial contact (G1) showed higher cadence, longer single-limb support time and shorter stride times than those with forefoot contact (G0). G1 patients also demonstrated greater knee flexion during stance, enhancing stability. Additionally, G1 patients with abnormal lateral gastrocnemius activation in the swing phase showed increased ankle power at the end of the stance phase.

Conclusions: In post-stroke spastic hemiparetic patients, the type of initial foot contact-forefoot or rearfoot-appears to influence gait characteristics, with rearfoot contact associated with a trend toward improved gait parameters, such as increased cadence and longer single-limb support.

Cerebral venous thrombosis (CVT) is a rare and potentially critical cerebrovascular disease involving intracranial dural sinuses and veins. The diagnosis is a stepwise pathway starting from clinical suspicion and employing several neuroradiological techniques, mainly Computed Tomography (CT)-based and Magnetic Resonance Imaging (MRI)-based modalities. The neuroradiological findings, both in the diagnostic phase and in the follow-up phase, may provide some results at risk for misdiagnosis. Non-thrombotic filling defects of intracranial dural sinuses are among them, and the potential sources are artefactual and or anatomical (venous septa and arachnoid granulations). The misdiagnosis of these findings as CVT is potentially linked to dangerous consequences. A potential strategy to avoid this is to increase the knowledge about technical and anatomical reasons for non-thrombotic filling defects of intracranial dural sinuses and their imaging features. The main aim of this review is to address these issues, including the variability of the intracranial venous pathways, providing the solutions for overcoming the above-cited potential misdiagnosis of non-thrombotic filling defects as CVT.

The differential diagnosis of acute-onset amnesia includes transient global amnesia (TGA), transient epileptic amnesia (TEA), and functional (or psychogenic) amnesia. The most common of these, TGA, is a rare but well-described condition characterised by a self-limited episode of dense anterograde amnesia with variable retrograde amnesia. Although the clinical phenomenology of TGA is well described, its pathogenesis is not currently understood, thus preventing the development of evidence-based therapeutic recommendations. Here, TGA, TEA, and functional amnesia are considered in light of the historical engram conception of memory, now informed by recent experimental research, as disturbances in distributed ensembles of engram neurones active during memory formation and recall. This analysis affords therapeutic implications for these conditions, should interventions to reactivate latent or silent engrams become available.

Background: This study aims to analyze potential risk factors that may influence the clinical outcomes following surgical treatment of traumatic peroneal nerve lesions.

Methods: We conducted a retrospective analysis of patients with traumatic peroneal nerve injuries treated with decompression, split repair, or nerve grafting between 2010 and 2020. Motor function and potential risk factors were evaluated.

Results: Out of 93 patients, 42 (45%) underwent decompression, 15 (16%) received split repair, and 36 (39%) required autologous nerve grafting. Up to one year after surgery, weakness of the anterior tibial muscle improved from a median of M0 to M3. After one year following nerve decompression, functional recovery was observed in 28 (65%) cases, in 9 (21%) cases after split repair, and in 7 (16%) cases following autologous nerve grafting. A defect greater than 8 cm was associated with significantly poorer improvement of extensor hallucis longus (p = 0.037, HR 0.109). We found no significant associations between age, diabetes mellitus, arterial hypertension, obesity, and postoperative outcomes.

Conclusions: According to the present data, a significant number of patients achieved functional improvement following surgical treatment, indicating that this procedure should be considered an important treatment option in selected cases.

Neuroinflammation is a blanket term that describes the body's complex inflammatory response in the central nervous system (CNS). It encompasses a phenotype shift to a proinflammatory state, the release of cytokines, the recruitment of peripheral immune cells, and a wide variety of other processes. Neuroinflammation has been implicated in nearly every major CNS disease ranging from Alzheimer's disease to brain cancer. Understanding and modeling neuroinflammation is critical for the identification of novel therapeutic targets in the treatment of CNS diseases. Unfortunately, the translation of findings from non-human models has left much to be desired. This review systematically discusses the role of human pluripotent stem cell (hPSC)-derived glia and supporting cells within the CNS, including astrocytes, microglia, oligodendrocyte precursor cells, pericytes, and endothelial cells, to describe the state of the field and hope for future discoveries. hPSC-derived cells offer an expanded potential to study the pathobiology of neuroinflammation and immunomodulatory cascades that impact disease progression. While much progress has been made in the development of models, there is much left to explore in the application of these models to understand the complex inflammatory response in the CNS.

Background: Endoscopic pituitary surgery might yield better endocrine outcomes compared to microscopic resection. We conducted a prospective, randomized, single-blinded study to compare the endocrine outcome and quality of life (QoL) of patients with newly diagnosed pituitary adenoma who underwent either endoscopic or microscopic transsphenoidal surgery (NCT03515603).

Methods: Due to slow recruitment, this study had to be stopped prematurely. Out of 170 transsphenoidal pituitary surgeries performed during the study period, 36 patients were enrolled in this study. The primary endpoint was based on the development of a new hypopituitarism. Secondary endpoints included the extent of resection, complications, and QoL.

Results: Endoscopic surgery was performed in 47.2% (n = 17). A new hypopituitarism was found in 8.3% (n = 3). All these cases underwent microscopic resection. Arginine vasopressin deficiency was found in 2.7% (n = 1) after microscopic resection. Gross total resection was achieved in 94.4% (n = 34). No surgical complications or new neurological deficits were observed. QoL improved significantly after the surgery, as measured by EQ-VAS (p = 0.003). According to EQ-5D3L, QoL improved or remained unchanged in almost all patients. No significant difference was found in QoL between the endoscopic and microscopic groups.

Conclusion: The endoscopic technique appears to offer benefits in the treatment of pituitary adenomas, particularly in terms of achieving a favorable endocrine outcome.