We describe the clinical manifestations and developmental abilities of individuals with SYT1-associated neurodevelopmental disorder (Baker-Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations between these characteristics and clinical symptoms.

Neuromyelitis Optica Spectrum Disorder (NMOSD) is a chronic autoimmune neuroinflammatory disease, typically characterized by antibodies against aquaporin 4 (AQP4-IgG) or myelin oligodendrocyte glycoprotein (MOG-IgG). Simultaneous seropositivity for both antibodies in a single patient is exceedingly rare. We present a dual AQP4-IgG/MOG-IgG seropositivity case who was treated with satralizumab throughout the whole preconception-to-postpartum course, to evaluate the effectiveness and safety of satralizumab, especially during the perinatal period. A 34 year-old female, initially presenting with decreased visual acuity in the left eye, was diagnosed with NMOSD as both AQP4-IgG and MOG-IgG seropositive. With traditional treatment of corticosteroids and mycophenolate mofetil, her vision gradually recovered and overall condition stabilized. Due to the desire for conception, her treatment regimen was transitioned to satralizumab monotherapy. Three months later with five doses of satralizumab, she successfully conceived and delivered a healthy female infant at 38 weeks' gestation. Satralizumab treatment was continued throughout the preconception-to-postpartum course. All routine and perinatal assessments were within normal limits, and 4 months postpartum, the condition of both mother and child remained stable, further supporting the favorable effectiveness and safety of satralizumab in this case. The coexistence of AQP4-IgG and MOG-IgG in an NMOSD patient represents an extremely rare and complex clinical scenario. When fertility is desired, the selection of disease-modifying therapy must carefully balance effectiveness and safety. In such cases, satralizumab may serve as a viable option, supported by promising real-world data.

New-onset refractory status epilepticus (NORSE) arises without an identifiable cause or prior epilepsy history, with a 16%-27% mortality rate and significant long-term neurological sequelae. Neuromodulation such as deep brain stimulation (DBS) targeting the anterior and centromedian thalamic nuclei has shown promise when the traditional approach of anti-seizure medications (ASMs), anesthetics, and immunomodulation fails. We present a case of cryptogenic NORSE in a 30-year-old male with autism and developmental delay, with refractory seizures localized to bilateral posterior quadrants. Sensing-enabled DBS targeting the pulvinar thalami led to decreased seizure burden and clinical improvement, highlighting the importance of tailoring neuromodulatory targets to seizure localization.

Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care. SMA is classified into Types 1-4, with some individuals identified presymptomatically. This systematic review examined the safety and effectiveness of nusinersen and risdiplam for treating SMA.

Patients with minor stroke exhibit slowed processing speed and generalized alterations in functional connectivity involving frontoparietal cortex (FPC). The pattern of connectivity evolves over time. In this study, we examine the relationship of functional connectivity patterns to cognitive performance, to determine neurophysiological underpinnings of improvement, and whether connectivity profiles may be useful in evaluating and predicting longer-term cognitive outcomes.

Inflammation is a critical risk factor for poor outcomes in cerebral infarction. Prior studies focused primarily on baseline inflammation status, neglecting dynamic longitudinal changes. We try to investigate the association between immune-inflammation status alterations and stroke prognosis, and evaluated three systemic biomarkers' predictive efficacy.

Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias. A hallmark feature is the selective degeneration of type-II fibers, likely driven by chronic myotonia and sustained metabolic stress. In this study, proton magnetic resonance spectroscopy (H-MRS) was applied to assess intramuscular carnosine as a potential noninvasive marker of type-II fiber integrity, alongside extramyocellular lipids (EMCL) and intracellular pH. We hypothesized that carnosine would be reduced in PROMM as a consequence of type-II fiber loss.

Neuropsychiatric symptoms are among the most prevalent sequelae of COVID-19, particularly among hospitalized patients. Recent research has identified volumetric brain changes associated with COVID-19. However, it currently remains poorly understood how brain changes relate to post-COVID fatigue and cognitive deficits. We, therefore, aimed to assess structural brain changes after hospitalization for COVID-19 and their associations with cognitive performance and fatigue.

To evaluate whether add-on memantine would exacerbate seizures in people with epilepsy.

To explore the feasibility of classical (CH50) and alternative (AH50) complement pathway activity as potential biomarkers for treatment guidance and monitoring during therapy with ravulizumab in patients with generalized myasthenia gravis (gMG) and compare these to therapeutic drug monitoring under eculizumab.

To describe the use of central stimulants and amantadine for fatigue in MS and evaluate a potential association with reduced work loss in people with MS.

Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify common indicators across SCA types 1, 2, and 3.

B. Spencer, S. Williams, E. Rockenstein, E. Valera, W. Xin, M. Mante, J. Florio, A. Adame, E. Masliah, and M.R. Sierks, "α-Synuclein Conformational Antibodies Fused to Penetratin are Effective in Models of Lewy Body Disease," Annals of Clinical and Translational Neurology 3, no. 8 (2016): 588-606, https://doi.org/10.1002/acn3.321. The above article, published online on 16 June 2016, in Wiley Online Library (http://onlinelibrary.wiley.com/), has been retracted by agreement between the journal Editor-in-Chief, Ahmet Hoke; the American Neurological Association; and Wiley Periodicals LLC. Following publication, a third party contacted the publisher with concerns about duplications in Figures 1A, 3A, 3C, and 4A. Additionally, duplicated panels were discovered for Figure 5 with an earlier publication by some of the same authors (Fields et al., 2016 [https://doi.org/10.1186/s12974-016-0585-8]). The retraction has been agreed to because of evidence that significant portions of multiple figures were duplicated, affecting the interpretation of the data and results presented. Author Eliezer Masliah did not indicate his agreement with the retraction. The other authors did not respond to communications from the Publisher regarding the retraction.

To examine the risk of hospital readmission after an index hospitalization for TBI in older adults.

To elucidate the features of plexin D1-immunoglobulin (Ig)G-associated neuropathic pain and its relationship to atopic myelitis (AM) in a nationwide Japanese survey.

Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning-based multiclass classification system for rapid, automated diagnosis and differentiation of 88 patients with diabetic peripheral neuropathy (DPN), chemotherapy-induced peripheral neuropathy (CIPN), chronic inflammatory demyelinating polyneuropathy (CIDP), and human immunodeficiency virus-associated sensory neuropathy (HIV-SN).

This study aimed to systematically observe the clinical manifestations, immune cell subsets, and dynamic changes in serological indicators in patients with myasthenia gravis (MG) before and after efgartigimod (EFG) treatment.

We present the case of a 28-year-old right-handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central-parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism. Intracranial monitoring, with extensive evaluation of both hemispheres, confirmed the seizure onset zone in the right central-parietal region. This area not only served as the site of seizure onset but also encompassed the primary sensory cortex.

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune-mediated neuropathy featuring progressive weakness, sensory deficits, and areflexia. While corticosteroids, intravenous immunoglobulin, and plasmapheresis are effective first-line immunotherapies, a subset of patients remains treatment-refractory. Daratumumab, an anti-CD38 monoclonal antibody approved for multiple myeloma, demonstrates immunomodulatory effects suggesting utility in refractory neuroimmune disorders. However, evidence for its efficacy in CIDP remains limited. We report a case study of treatment-refractory CIDP successfully managed with daratumumab, including 1 year follow-up data.

Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life-threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data.

The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective subscores of the modified Friedreich Ataxia Rating Scale (mFARS). The effect increased with the number of consecutive tests, shorter testing intervals, and older group ages. This has implications for trial design and endpoint selection, thus strengthening the utility of the Upright Stability Score (USS), a sub-score of mFARS, as an independent measure.