BMC Neurology

BACKGROUND: Pathogenic variants in Gap junction protein beta 1 (GJB1), which encodes Connexin 32, are known to cause X-linked Charcot-Marie-Tooth disease (CMTX), the second most common form of CMT. CMTX presents with the following five central nervous systems (CNS) phenotypes: subclinical electrophysiological abnormalities, mild fixed abnormalities on neurological examination and/or imaging, transient CNS dysfunction, cognitive impairment, and persistent CNS manifestations. CASE PRESENTATION: A 40-year-old Japanese male showed CNS symptoms, including nystagmus, prominent spastic paraplegia, and mild cerebellar ataxia, accompanied by subclinical peripheral neuropathy...

BACKGROUND: Bibrachial amyotrophy associated with an extradural CSF collection and infratentorial superficial siderosis (SS) are rare conditions that may occasionally mimic ALS. Both disorders are assumed to be due to dural tears. CASE PRESENTATION: A 53-year-old man presented with a 7-year history of slowly progressive asymmetric bibrachial amyotrophy. Initially, a diagnosis of atypical motor neuron disease (MND) was made. At re-evaluation 11 years later, upper limb wasting and weakness had further progressed and were accompanied by sensorineural hearing loss...

OBJECTIVES: The aim of this study was to develop machine learning-based models for predicting acute cerebral infarction (ACI) in patients. METHODS: We extracted the data of ACI patients and non-ACI patients (as control) from two hospitals. The Lasso algorithm was employed to select the most crucial features associated with ACI. Five machine learning algorithms-based models were trained, which was performed with 10-fold cross-validation. Then, the area under the receiver operating characteristic curve (AUC), accuracy, and F1-score were calculated in the training models...

BACKGROUND: Multiple sclerosis (MS) is an inflammatory disease of the central nervous system that causes damage to the myelin and axons and is caused by genetic or environmental factors. Amyotrophic lateral sclerosis (ALS) is characterized by rapidly progressive degeneration of the motor neurons resulting in the presence of upper and lower motor-neuron signs and symptoms. CASE PRESENTATION: A 46-year-old female patient presented with symmetrical weakness of the lower limbs and numbness that developed over weeks...

BACKGROUND: Occipital nerve blocks are essential in diagnosing and treating headache disorders such as migraine, cervicogenic headache, occipital neuralgia, and cluster headache. In this study, we aimed to investigate the potential compression points of the greater occipital nerve (GON), third occipital nerve (TON), and lesser occipital nerve (LON) which are targeted to block in occipital nerve blocks and to develop a method to detect these points easily. METHODS: To identify potential compression points of the GON, TON, and LON, we dissected 43, 41, and 26 cadavers, respectively...

Post-transplantation primary central nervous system lymphoma (PT-PCNSL) is a rare neoplasm that occurs in immunocompromised patients. It can manifest months or years after transplantation, presenting with various neurological symptoms. A 64-year-old woman, who had received a liver transplant due to autoimmune hepatitis, presented with generalized weakness, headache, and confusion. Further investigation revealed multiple ring-enhancing lesions in the right frontal and temporoparietal regions on brain MRI. A brain biopsy confirmed the diagnosis of PT-PCNSL...

BACKGROUND: Early nutrition after acute ischemic stroke is crucial. We explored early enteral nutrition for stroke patients and evaluated changes in blood indicators as a predictor of stroke prognosis. METHODS: All hospitalized stroke patients receiving enteral nutrition were included in the study. We retrospectively collected the protein, energy, fat, and carbohydrate values for 7 days after admission. Serum albumin, total protein, and hemoglobin values were reviewed at admission and at one week...

BACKGROUND: Diaphragmatic myoclonus is a rare motor disorder that affects muscle tone. It is characterized by involuntary movements of the abdominal wall and rhythmic, repetitive contractions of the accessory or respiratory muscles, all of which are innervated by the cervical nerve roots. CASE DESCRIPTION: We reviewed the case of a 57-year-old male patient who underwent surgery for a left cerebellar hemorrhage. He exhibited persistent myoclonus in the palate, jaw, and thoracoabdominal region...

BACKGROUND: Functional Neurological Disorder (FND) is commonly encountered in clinical practice, causing functional impairment and poor quality of life. As there is limited data from Saudi Arabia, our study aims to explore the experience and opinions of Saudi neurologists and neurology trainees regarding FND. METHODS: In our cross-sectional observational study, we included 100 neurology consultants and trainees. Data was collected using an online questionnaire from March to August 2023...

BACKGROUND AND AIMS: Compared to small vessel occlusion (SVO) patients, branch atheromatous disease (BAD) patients are more likely to develop early neurological deterioration (END). Stroke patients with END have a poor prognosis. Initial clinical features/radiological findings are often insufficient to distinguish between BAD and SVO; therefore, they may not detect END. In this retrospective study, we investigated relative factors for END in perforator artery infarction and created a scoring system for END in these patients...

BACKGROUND: Neurosarcoidosis is a rare entity, usually within the context of systematic sarcoidosis. Isolated neurosarcoidosis and especially a manifestation with pachymeningitis is a notable rarity. CASE REPORT: A 26-year-old patient presented to the emergency department with acute onset, recurrent episodes of occipital headaches spreading over the whole cranium and vomiting without food consumption, for three days. The clinical examination did not reveal any neurological deficits...

BACKGROUND: Social support is a multidimensional construct encompassing emotional support as well as pain-focused care and attention, also known as solicitous support. One the one hand, social support is widely believed to positively influence pain symptoms, their intensity, and the ability to cope and influence pain. On the other hand, social support can be negative if it conflicts with the patient's needs or even causes discomfort. How different types of social support influence pain is not very well understood especially because most of the present research originates from laboratory studies, raising uncertainties about its generalizability to the everyday life of individuals with chronic pain...

BACKGROUND: Motor neuron disease (MND) is a chronic and progressive neurodegenerative disorder with an unknown cause. The development of amyotrophic lateral sclerosis (ALS) is believed to be linked to an immune response. Monocytes/macrophages and T cells are key players in the disease's advancement. Monitoring levels of cytokines in the blood can help forecast patient outcomes, while immunotherapy shows promise in alleviating symptoms for certain individuals. CASE PRESENTATION: A 56-year-old male patient was admitted to the hospital due to progressive limb weakness persisting for eight months...

BACKGROUND: The relationship between gut microbiota and vertigo, specifically Benign Paroxysmal Vertigo (BPV) and Vertigo of Central (VC), remains underexplored. AIM AND HYPOTHESES: This study aims to investigate the causal relationships between gut microbiota and two types of vertigo, BPV and VC. Additionally, the study seeks to explore the mediation effects of metabolic, inflammatory, and psychological factors on these relationships. We hypothesize that specific taxa of gut microbiota have a causal effect on the risk of developing BPV and VC...

OBJECTIVE: Deep vein thrombosis (DVT) is discussed as a source of embolism for cerebral ischemia in the presence of patent foramen ovale (PFO). However, previous studies reported varying rates of DVT in stroke patients, and recommendations for screening are lacking. This study aimed to characterize patients with stroke or transient ischemic attack (TIA) and concomitant PFO and explore the rate of DVT and associated parameters. METHODS: Medical records were screened for patients with stroke or TIA and echocardiographic evidence of PFO...

BACKGROUND: The objective of this study was to establish a predictive model utilizing machine learning techniques to anticipate the likelihood of thrombolysis resistance (TR) in acute ischaemic stroke (AIS) patients undergoing recombinant tissue plasminogen activator (rt-PA) intravenous thrombolysis, given that nearly half of such patients exhibit poor clinical outcomes. METHODS: Retrospective clinical data were collected from AIS patients who underwent intravenous thrombolysis with rt-PA at the First Affiliated Hospital of Bengbu Medical University...

BACKGROUND: Endovascular therapy for acute ischemic stroke has been shown to be highly effective in selected patients. However, the ideal criteria for patient selection are still debated. It is well known that collateral flow is an important factor, but the assessment is often subjective and time-consuming. Relative cerebral blood volume (rCBV) is a putative indicator of collateral capacity and can be quickly and easily determined by automated quantitative analysis. We investigated the relationship between rCBV of the affected region and clinical outcome in patients with acute ischemic stroke after endovascular therapy...

BACKGROUND: Traumatic brain injury (TBI) is defined as acquired cerebral damage caused by an external mechanical impact, which has the potential to lead to transient or enduring debilitation. TBI is associated with many forms of long-lasting psychiatric conditions, including anxiety disorders. As anxiety is highly debilitating by causing impaired social functioning and decreased quality of life for the afflicted, especially in the form of anxiety disorders such as generalized anxiety disorder, certain efforts have been made to explore the factors associated with it, and one such factor is TBI...

BACKGROUND: Generalized myasthenia gravis (gMG) can be managed with acetylcholinesterase inhibitors (AChEis; e.g., pyridostigmine), corticosteroids, other immunosuppressive drugs (e.g., tacrolimus), and their combinations. Intravenous immunoglobulin (IVIg) or plasmapheresis (PLEX) may be administered if symptoms persist. PLEX and IVIg are also mainstays of treatment for myasthenic crisis. Recently, efgartigimod was approved in Japan for treating adults with gMG (irrespective of the antibody status) who do not have a sufficient response to corticosteroids and nonsteroidal immunosuppressive therapies...

BACKGROUND: To investigate the safety (adverse events [AEs] and post-vaccination multiple sclerosis [MS] activity within 6 weeks), clinical efficacy (protection against coronavirus disease 2019 [COVID-19]), and vaccine-induced humoral immunogenicity (SARS-CoV-2 neutralizing antibody, anti-nucleocapsid IgG, and anti-spike IgG) of the Sinopharm (BBIBP-CorV) vaccine among people with MS (PwMS) receiving different disease-modifying therapies (DMTs). METHODS: This prospective cohort study was conducted between November 2021 and May 2022...