Search Results (13)

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. Full article

Fucosidosis is a rare lysosomal storage disease caused by α-L-fucosidase deficiency following a mutation in the FUCA1 gene. This enzyme is responsible for breaking down fucose-containing glycoproteins, glycolipids, and oligosaccharides within the lysosome. Mutations in FUCA1 result in either reduced enzyme activity or complete loss of function, leading to the accumulation of fucose-rich substrates in lysosomes. Lysosomes become engorged with undigested substrates, which leads to secondary storage defects affecting other metabolic pathways. The central nervous system is particularly vulnerable, with lysosomal dysfunction causing microglial activation, inflammation, and neuronal loss, leading to the neurodegenerative symptoms of fucosidosis. Neuroinflammation contributes to secondary damage, including neuronal apoptosis, axonal degeneration, and synaptic dysfunction, exacerbating the disease process. Chronic neuroinflammation impairs synaptic plasticity and neuronal survival, leading to progressive intellectual disability, learning difficulties, and loss of previously acquired skills. Inflammatory cytokines and lysosomal burden in motor neurons and associated pathways contribute to ataxia, spasticity, and hypotonia, which are common motor symptoms in fucosidosis. Elevated neuroinflammatory markers can increase neuronal excitability, leading to the frequent occurrence of epilepsy in affected individuals. So, fucosidosis is characterized by rapid mental and motor loss, along with growth retardation, coarse facial features, hepatosplenomegaly, telangiectasis or angiokeratomas, epilepsy, inguinal hernia, and dysostosis multiplex. Patients usually die at an early age. Treatment of fucosidosis is a great challenge, and there is currently no definitive effective treatment. Hematopoietic cell transplantation studies are ongoing in the treatment of fucosidosis. However, early diagnosis of this disease and treatment can be effective. In addition, the body’s immune system decreases due to chemotherapy applied after transplantation, leaving the body vulnerable to microbes and infections, and the risk of death is high with this treatment. In another treatment method, gene therapy, the use of retroviral vectors, is promising due to their easy integration, high cell efficiency, and safety. In another treatment approach, enzyme replacement therapy, preclinical studies are ongoing for fucosidosis, but the blood–brain barrier is a major obstacle in lysosomal storage diseases affecting the central nervous system. Early diagnosis is important in fucosidosis, a rare disease, due to the delay in the diagnosis of patients identified so far and the rapid progression of the disease. In addition, enzyme replacement therapy, which carries fewer risks, is promising. Full article

Facial nerve injury can cause significant functional impairment, impacting both the peripheral and central nervous systems. The present study evaluated changes in facial motor function, numbers of cholinergic neurons and microglia, and nNOS levels in the facial nucleus of the central nervous system (CNS) following peripheral facial nerve injury. Facial nerve function, as determined by eyeblink and whisker-movement reflexes, was evaluated at baseline and 1, 2, 3, 4, 8, and 12 weeks after inducing facial nerve injury through compression or axotomy. The expression of choline acetyltransferase (ChAT), ionized calcium-binding adaptor molecule 1 (Iba-1), and neuronal nitric oxide synthase (nNOS) in the facial nucleus of the CNS was analyzed 2, 4, and 12 weeks after peripheral facial nerve injury. Compression-induced facial nerve injury was found to lead to temporary facial motor impairment, whereas axotomy resulted in persistent impairment. Moreover, both compression and axotomy reduced ChAT expression and increased Iba-1 and nNOS expression in the facial nucleus, indicating upregulation of an inflammatory response and neurodegeneration. These results indicate that, compared with compression-induced injury, axotomy-induced facial nerve injury results in greater facial motor dysfunction and more persistent microglial and nitric oxide activation in the facial nucleus of the CNS. Full article

In the mammalian isocortex, CD44, a cell surface receptor for extracellular matrix molecules, is present in pial-based and fibrous astrocytes of white matter but not in protoplasmic astrocytes. In the hominid isocortex, CD44+ astrocytes comprise the subpial “interlaminar” astrocytes, sending long processes into the cortex. The hippocampus also contains similar astrocytes. We have examined all levels of the human central nervous system and found CD44+ astrocytes in every region. Astrocytes in white matter and astrocytes that interact with large blood vessels but not with capillaries in gray matter are CD44+, the latter extending long processes into the parenchyma. Motor neurons in the brainstem and spinal cord, such as oculomotor, facial, hypoglossal, and in the anterior horn of the spinal cord, are surrounded by CD44+ processes, contrasting with neurons in the cortex, basal ganglia, and thalamus. We found CD44+ processes that intercalate between ependymal cells to reach the ventricle. We also found CD44+ astrocytes in the molecular layer of the cerebellar cortex. Protoplasmic astrocytes, which do not normally contain CD44, acquire it in pathologies like hypoxia and seizures. The pervasive and inducible expression of CD44 in astrocytes is a novel finding that lays the foundations for functional studies into the significance of CD44 in health and disease. Full article

Peripheral facial nerve injury leads to changes in the expression of various neuroactive substances that affect nerve cell damage, survival, growth, and regeneration. In the case of peripheral facial nerve damage, the injury directly affects the peripheral nerves and induces changes in the central nervous system (CNS) through various factors, but the substances involved in these changes in the CNS are not well understood. The objective of this review is to investigate the biomolecules involved in peripheral facial nerve damage so as to gain insight into the mechanisms and limitations of targeting the CNS after such damage and identify potential facial nerve treatment strategies. To this end, we searched PubMed using keywords and exclusion criteria and selected 29 eligible experimental studies. Our analysis summarizes basic experimental studies on changes in the CNS following peripheral facial nerve damage, focusing on biomolecules that increase or decrease in the CNS and/or those involved in the damage, and reviews various approaches for treating facial nerve injury. By establishing the biomolecules in the CNS that change after peripheral nerve damage, we can expect to identify factors that play an important role in functional recovery from facial nerve damage. Accordingly, this review could represent a significant step toward developing treatment strategies for peripheral facial palsy. Full article

The diagnosis of Kawasaki disease (KD) is challenging and often delayed mainly in case of young infants and in presence of an incomplete disease and atypical features. Facial nerve palsy is one of the rare neurologic symptoms of KD, associated with a higher incidence of coronary arteries lesions and may be an indicator of a more severe disease. Here, we describe a case of lower motor neuron facial nerve palsy complicating KD and perform an extensive literature review to better characterize clinical features and treatment of patients with KD-associated facial nerve palsy. The patient was diagnosed at the sixth day of disease and presented extensive coronary artery lesions. A prompt treatment with intravenous immunoglobulins, aspirin and steroids obtained a good clinical and laboratory response, with resolution of facial nerve palsy and improvement of coronary lesions. The incidence of facial nerve palsy is 0.9–1.3%; it is often unilateral, transient, more frequent on the left and seemingly associated with coronary impairment. Our literature review showed coronary artery involvement in the majority of reported cases (27/35, 77%) of KD with facial nerve palsy. Unexplained facial nerve palsy in young children with a prolonged febrile illness should prompt consideration of echocardiography to exclude KD and start the appropriate treatment. Full article

Facial motoneuron (FMN) survival is mediated by CD4+ T cells in an interleukin-10 (IL-10)-dependent manner after facial nerve axotomy (FNA), but CD4+ T cells themselves are not the source of this neuroprotective IL-10. The aims of this study were to (1) identify the temporal and cell-specific induction of IL-10 expression in the facial motor nucleus and (2) elucidate the neuroprotective capacity of this expression after axotomy. Immunohistochemistry revealed that FMN constitutively produced IL-10, whereas astrocytes were induced to make IL-10 after FNA. Il10 mRNA co-localized with microglia before and after axotomy, but microglial production of IL-10 protein was not detected. To determine whether any single source of IL-10 was critical for FMN survival, Cre/Lox mouse strains were utilized to selectively knock out IL-10 in neurons, astrocytes, and microglia. In agreement with the localization data reflecting concerted IL-10 production by multiple cell types, no single cellular source of IL-10 alone could provide neuroprotection after FNA. These findings suggest that coordinated neuronal and astrocytic IL-10 production is necessary for FMN survival and has roles in neuronal homeostasis, as well as neuroprotective trophism after axotomy. Full article

Drowsiness is one of the leading causes of traffic accidents. For those who operate large machinery or motor vehicles, incidents due to lack of sleep can cause property damage and sometimes lead to grave consequences of injuries and fatality. This study aims to design learning models to recognize drowsiness through human facial features. In addition, this work analyzes the attentions of individual neurons in the learning model to understand how neural networks interpret drowsiness. For this analysis, gradient-weighted class activation mapping (Grad-CAM) is implemented in the neural networks to display the attention of neurons. The eye and face images are processed separately to the model for the training process. The results initially show that better results can be obtained by delivering eye images alone. The effect of Grad-CAM is also more reasonable using eye images alone. Furthermore, this work proposed a feature analysis method, K-nearest neighbors Sigma (KNN-Sigma), to estimate the homogeneous concentration and heterogeneous separation of the extracted features. In the end, we found that the fusion of face and eye signals gave the best results for recognition accuracy and KNN-sigma. The area under the curve (AUC) of using face, eye, and fusion images are 0.814, 0.897, and 0.935, respectively. Full article

A 16-year-old Thai girl developed right facial palsy, a lower motor neuron lesion, and numbness 3 h after receiving the first dose of the BNT162b2 mRNA vaccine. Neurological examination showed the involvement of the right cranial nerves (CN) V, VII, IX, and X. Electrophysiological tests revealed the absence of an F wave response, suggesting a proximal demyelinating process. Magnetic resonance imaging of the brain demonstrated abnormal enhancement of the right CN VII. The cerebrospinal fluid profile on day 7 after the onset of symptoms was normal. The patient was diagnosed with polyneuritis cranialis, a rare variant of Guillain-Barre syndrome. She was successfully treated with intravenous immunoglobulin therapy. Full article

Even though increasing literature describes changes in emotional processing in Amyotrophic Lateral Sclerosis (ALS), efforts to summarize relevant findings are lacking in the field. A systematic literature review was performed to provide a critical and up-to-date account of emotional abilities in ALS. References were identified by searches of PubMed, Web of Science and Scopus (1980–2021, English literature), with the following key terms: (“Amyotrophic Lateral Sclerosis” or “Primary Lateral Sclerosis” or “Motor Neuron”) and “Emotion*” and (“Processing” or “Attribution” or “Elaboration” or “Perception” or “Recognition”). Studies concerning only caregivers, pseudobulbar affect, and social cognition were excluded. Forty-one articles were included, all concerning ALS, and seven topics were identified: Emotion recognition, Emotional responsiveness, Emotional reactivity, Faces approachability rating, Valence rating, Memory for emotional materials and Alexithymia. The majority of these aspects have only been sparsely addressed. The evidence confirms altered emotional processing in ALS. The most consistent findings regard the recognition of facial expressions for negative emotions, but also alterations in the subjective responsiveness to emotional stimuli (arousal, valence and approachability), in psychophysiological and cerebral reactivity and in emotional memory, together with alexithymia traits, were reported. According to this evidence, emotional abilities should be included in the clinical assessment and therapeutic interventions. Full article

We used computer-based automatic expression analysis to investigate the impact of imitation on facial emotion recognition with a baseline-intervention-retest design. The participants: 55 young adults with varying degrees of autistic traits, completed an emotion recognition task with images of faces displaying one of six basic emotional expressions. This task was then repeated with instructions to imitate the expressions. During the experiment, a camera captured the participants’ faces for an automatic evaluation of their imitation performance. The instruction to imitate enhanced imitation performance as well as emotion recognition. Of relevance, emotion recognition improvements in the imitation block were larger in people with higher levels of autistic traits, whereas imitation enhancements were independent of autistic traits. The finding that an imitation instruction improves emotion recognition, and that imitation is a positive within-participant predictor of recognition accuracy in the imitation block supports the idea of a link between motor expression and perception in the processing of emotions, which might be mediated by the mirror neuron system. However, because there was no evidence that people with higher autistic traits differ in their imitative behavior per se, their disproportional emotion recognition benefits could have arisen from indirect effects of imitation instructions Full article

Recessive mutations in Post-GPI attachment to proteins 3 (PGAP3) cause the rare neurological disorder hyperphosphatasia with mental retardation syndrome 4 type (HPMRS4). Here, we report a novel homozygous nonsense mutation in PGAP3 (c.265C>T-p.Gln89*), in a 3-year-old boy with unique novel clinical features. These include decreased intrauterine fetal movements, dysgenesis of the corpus callosum, olfactory bulb agenesis, dysmorphic features, cleft palate, left ear constriction, global developmental delay, and hypotonia. The zebrafish functional modeling of PGAP3 loss resulted in HPMRS4-like features, including structural brain abnormalities, dysmorphic cranial and facial features, hypotonia, and seizure-like behavior. Remarkably, morphants displayed defective neural tube formation during the early stages of nervous system development, affecting brain morphogenesis. The significant aberrant midbrain and hindbrain formation demonstrated by separation of the left and right tectal ventricles, defects in the cerebellar corpus, and caudal hindbrain formation disrupted oligodendrocytes expression leading to shorter motor neurons axons. Assessment of zebrafish neuromuscular responses revealed epileptic-like movements at early development, followed by seizure-like behavior, loss of touch response, and hypotonia, mimicking the clinical phenotype human patients. Altogether, we report a novel pathogenic PGAP3 variant associated with unique phenotypic hallmarks, which may be related to the gene’s novel role in brain morphogenesis and neuronal wiring. Full article

X-linked spinobulbar muscular atrophy (Kennedy’s disease) affects muscles and motor neurons, manifesting as weakness and wasting of bulbar, facial, and proximal limb muscles due to loss of anterior horn cells in the brain and spinal cord. We present the case of a patient with X-linked spinobulbar muscular atrophy with rapidly worsening bulbar symptoms caused by laryngopharyngeal irritation associated with a viral upper respiratory tract infection, seasonal allergies and laryngopharyngeal reflux, who dramatically improved with multimodality therapy. Full article