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Background: To date, there is no journal that reports the coexistence of thymoma‐associated myasthenia gravis, alopecia areata, and twenty‐nail dystrophy. This paper hypothesizes that the presence of thymoma increases the risk of these conditions. Case presentation: The patient was a 37‐year‐old Filipino who came in for a year of history of fluctuating, but progressive, left‐sided ptosis and diplopia; difficulty swallowing; dysarthria; and aspiration and symmetric proximal muscle weakness confirmed to be myasthenia gravis by abnormal repetitive nerve stimulation and the presence of thymoma on histology. Before his thymectomy, he also developed gradually worsening thinning and longitudinal ridging of all fingernails and toenails; and patches of bald areas on the scalp; diagnosed to be twenty‐nail dystrophy and alopecia areata, respectively, by a board‐certified dermatologist. Conclusion: Thymoma is the possible risk factor and link for the co‐occurrence of the three conditions in the present patient. [ABSTRACT FROM AUTHOR]

What is important, I think, is to examine typical complications that are reported relatively frequently and to discuss the effects of COVID-19 infection on the brain, nerves, and muscles from their pathogenesis. If you read the article straightforwardly, you will easily understand that they refer to symptoms or complications found in the brain, nerves, and muscles associated with COVID-19. Even Guillain-Barré syndrome (GBS), the International GBS Outcome Study reported that there has been no significant increase in patient enrollment.3 In addition, the significance of discussing the subtypes of GBS in detail in this paper is not clear. [Extracted from the article]

Among the different forms of cerebellar ataxia, autoimmune cerebellar ataxia (ACA) or immune‐mediated cerebellar ataxia (IMCA), which appears to be based on an autoimmune mechanism, has long been considered important from the viewpoint of paraneoplastic syndrome. With the expansion of the concept of immune‐mediated neurological diseases and the identification of many novel autoantibodies, ACA has recently become an important neurological syndrome. Although no definitive diagnostic criteria of ACA exist, Hadjivassilou et al suggested diagnostic criteria for primary ACA in 2020 and Dalmau and Graus showed proposed diagnostic criteria for ACA in 2022. The proposed diagnostic criteria for ACA by Dalmau and Graus emphasize the importance of antibody reliability. In the future, additional studies should be conducted to identify new antibodies associated with ACA and to clarify the importance of each antibody. Moreover, ACA is a disease for which immunological therapeutic intervention is feasible and requires early treatment to maintain cerebellar function. Many cases with ACA have reported the efficacy of immunotherapy. The concept of ACA may have the potential for further expansion and becomes increasingly important in the diagnosis of cerebellar ataxia. [ABSTRACT FROM AUTHOR]

Objective: To investigate the frequency of serum autoantibodies targeting contactin‐associated protein 1 (Caspr1) and its complexes with other paranode antigens, contactin‐1 (CNTN1) and neurofascin 155 (NF155), in Japanese patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Methods: Sera from 26 CIDP patients, 35 patients with Guillain–Barré syndrome, and 31 healthy individuals participated. Paranodal immunoglobulin G antibodies were quantified using enzyme‐linked immunosorbent assays with commercially available recombinant proteins as antigens. Results: Anti‐Caspr1 antibodies were present in one participant (case 1, 3.8%) of CIDP, and negative in all Guillain–Barré syndrome patients and healthy participant. Case 1 was a man who developed subacute distal limb‐predominant muscle weakness and sensory ataxia with postural hand tremor at 69 years‐of‐age, and therapeutic benefit of intravenous immunoglobulin and oral steroids was inadequate. The detected anti‐Caspr1 antibodies predominantly belonged to the immunoglobulin G4 subclass, and the addition of CNTN1 to Caspr1 as an antigen increased antibody reactivity, although the increase was just 20–30% at most. The presence of autoantibodies against paranode protein complexes, including Caspr1/CNTN1, Caspr1/NF155 and Caspr1/CNTN1/NF155, was confirmed in several CIDP patients, although they also had anti‐Caspr1 or anti‐NF155 antibodies; thus, in our cohort, there were no patients with autoantibodies that specifically recognized paranode protein complexes. Conclusions: This is the first confirmed Japanese case of anti‐Caspr1 antibody‐positive CIDP with a clinical signature similar to that of patients of Western origin. Our preliminary study did not identify the presence of specific antibodies against the paranode protein complexes, and the primary target antigen is likely Caspr1. [ABSTRACT FROM AUTHOR]

Objective: There is little research on the relationship between self‐concept, psychiatric symptoms and quality of life among multiple sclerosis (MS) patients. We assessed the impact of disease perception (expectation and knowledge) on these metrics according to time from diagnosis. Methods: This was an observational, cross‐sectional, multicenter study. Group 1 included patients up to 3 months from MS diagnosis, whereas group 2 included patients with MS diagnosis established for >12 months and <36 months. A 19‐item true/false questionnaire developed by the investigators to assess disease perception, Hospital Anxiety and Depression Scale (HADS), Fatigue Severity Scale and three‐level level version of EQ‐5D questionnaires were used. Results: A total of 90 patients from six centers were included (38 in group 1). A total of 80% had a good disease knowledge, whereas just 48% reported positive expectations. There were no differences in disease knowledge, disease expectations, HADS, Fatigue Severity Scale and EQ‐5D. We found an inverse correlation between disease knowledge and problems in self‐care (P = 0.018) and fatigue (P = 0.032). Patients with the worst expectations about the disease were more anxious (P = 0.012 on HADS and P < 0.001 on EQ‐5D). They also reported more problems in mobility (P = 0.002), self‐care (P = 0.005), usual activities (p = 0.009) and pain (P = 0.001), and a worst health status compared with the past 12 months (P < 0.001) and with the best imaginable status (P < 0.001). Conclusions: Our study showed no association between disease duration and disease perception. Patients with less disease knowledge reported more problems in self‐care and higher fatigue scores. Patients with the worst disease expectations were more anxious and reported a worse health status. More attention should be paid to perceived health status in MS patients. [ABSTRACT FROM AUTHOR]

Background: Stiff Person Syndrome (SPS), a rare immune‐mediated neuromuscular disorder, is characterized by rigidity, stiffness, and intermittent spasms of axial and extremity muscles. Various immunotherapies including intravenous immunoglobulin (IVIG) have been used for this autoimmune condition. Here we aim to review the role of IVIG in the treatment of SPS along with its outcome. Methods: A systematic literature search of PubMed and Embase was conducted to identify the relevant published articles against the predefined criteria using suitable keywords combinations till September 20, 2021. Data were extracted to produce descriptive information of SPS patients on demographics, diagnostics, treatment with IVIG, and outcome. Results: Twelve studies with 216 patients were included in the review and 63.89% of them had classical SPS. Glutamic acid decarboxylase (GAD) autoantibodies were present in 72.68% of the patients and 57.89% in whom electromyography (EMG) was performed had continuous motor activity. IVIG therapy was given to 95 patients in different regimens in various studies and varying scoring systems were used to assess the outcome, and 83.16% showed some form of improvement, 14.74% showed no improvement, while 2.10% worsened. None of the included studies mentioned an adverse effect of IVIG in the patients. Conclusion: IVIG may benefit patients with SPS along with other medications. Owing to the rarity of the disease and insufficient studies on the assessment of immunotherapy in SPS, longitudinal studies with a sizable number of patients are required to clarify clinical course, treatment, and outcome in SPS with the use of IVIG. [ABSTRACT FROM AUTHOR]

Background: Cognitive impairment (CI) is common in multiple sclerosis. We assessed the relationship between CI and demographic, motor disability, and volumetric brain atrophy in relapsing remitting multiple sclerosis (RRMS). Methods: In all, 43 RRMS patients and 40 age‐ sex‐, and education‐matched normal volunteers were enrolled. Assessments included: demographic, Expanded Disability Status Scale (EDSS); Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS); and brain volumetric assessment. Results: The mean age of onset of RRMS patients was 25.72 y and the mean number of attacks was 3.30 ± 2.33/year. The total brain volume, cerebral, and cerebellar hemispheres, brainstem as well as thalamic and hippocampal gray matter were significantly reduced in RRMS patients compared with controls. CI was detected in 41.9% of patients. Patients with CI had fewer years of education (P =.001), a higher number of attacks (P =.002), worse EDSS scores (P =.030); reduced gray matter volume, particularly of the thalamus, and hippocampus compared with patients without CI. There were significant negative correlations between CI with duration of illness, number of attacks, time elapsed between onset and diagnosis, and EDSS. Thalamic volume showed strong positive correlations with CI (P <.0001). The best predictors of CI were thalamic atrophy, duration of illness, and years of education (P =.001,.010, and.035 respectively). Conclusion: We confirmed the presence of gray matter atrophy of the brain in RRMS patients. Volumetric magnetic resonance imaging measures of thalamus, duration of illness, and years of education could be useful biomarkers of CI in RRMS. [ABSTRACT FROM AUTHOR]

Objective: This is a critical review of studies aiming to assess the safety and efficacy of monoclonal antibodies as compared with the classical regimen in patients with neuromyelitis optica spectrum disorder. Methods: Various electronic databases were searched for original articles reporting results from the use of monoclonal antibodies in neuromyelitis optica spectrum disorder. The Expanded Disability Status Scale and annualized relapse rate score before and after treatment were the primary effect measures. The pooled standardized mean difference with 95% CI was calculated using the random effects model. The heterogeneity of the included studies was calculated using Cochran's Q test and I2 statistics. Results: Of 36 included studies, meta‐analysis was carried out from 27 studies. The pooled analysis of 1010 patients showed a mean reduction in the mean annualized relapse rate ratio after tocilizumab therapy −2.45 (95% CI −3.13 to −1.77) to be higher compared with rituximab −1.49 (95% CI −1.81 to −1.17). Likewise, the mean reduction in the Expanded Disability Status Scale after tocilizumab was higher −1.10 (95% CI −1.75 to −0.44) compared with rituximab −0.80 (95% CI −1.11 to −0.48). Conclusion: Tocilizumab has a greater effect than rituximab in terms of the reduction of the annualized relapse rate and Expanded Disability Status Scale in neuromyelitis optica spectrum disorder patients. The greater efficacy of tocilizumab could result from its multiple dynamic pharmacodynamics (i.e. its effect on interleukin‐6‐dependent inflammatory processes, involving CD20‐negative plasmablasts, pathogenic T cells and regulatory T cells) and to some degree due to heterogeneity in our study. Satralizumab (monotherapy or add‐on), eculizumab and inebilizumab (monotherapy) are effective in aquaporin‐4‐positive cases with good safety profiles. Ublituximab, bortezomib, bevacizumab and C1‐esterase inhibitors are both effective and safe add‐on drugs. [ABSTRACT FROM AUTHOR]

Background: Cryopyrin‐associated periodic syndrome (CAPS) is an autoinflammatory disorder with a spectrum ranging from the milder familial cold auto‐inflammatory syndrome (FCAS) phenotype to the more severe Muckle–Wells Syndrome. Although headaches are the most common neurological symptoms, neuroinflammatory diseases such as multiple sclerosis (MS) have only been reported in the more severe phenotypes. Case Presentation: We describe a 43‐year‐old male diagnosed with relapse‐remitting MS who developed cold‐induced arthralgias and urticaria. He initially presented with facial numbness and arthralgias in his late teenage years, and brain magnetic resonance imaging (MRI) demonstrated multiple lesions with periventricular white matter extension. Oligoclonal bands were detected in the cerebrospinal fluid (CSF). Symptoms gradually improved, and a decade later he presented with numbness at upper limbs and tongue. Brain and spine MRI showed new lesions, but CSF was unremarkable. He was started on interferon β‐1a with symptomatic improvement until another flare around 13 years later. Treatment was changed to dimethyl fumarate. During this hospitalization, urticaria was problematic and particularly associated with cold temperatures. This raised suspicion for possible CAPS and subsequently confirmed with an A439V mutation in the NLRP3 gene, consistent with FCAS. Anakinra was started but was not tolerated because of localized reactions despite desensitization. His serum amyloid A was mildly elevated at 9 mg/L (reference range 0–6). He remains stable from a neurological perspective, including imaging, and continues dimethyl fumarate. Conclusions: To date, FCAS and possible association with MS has not been described. The case raises challenges in the diagnosis of concurrent disease processes. It also highlights that neurological sequelae should be considered in all spectrums of CAPS, and distinctions with MS should be made where possible. [ABSTRACT FROM AUTHOR]

Human prion diseases (HPDs) are progressive and fatal neurodegenerative diseases caused by abnormal prion protein (PrPSc). They can be sporadic, genetic or acquired. Sporadic HPDs include sporadic Creutzfeldt–Jakob disease (CJD) and sporadic fatal insomnia. Genetic HPDs include genetic CJD, Gerstman–Sträussler–Scheinker disease and fatal familial insomnia. Acquired HPDs include Kuru, variant CJD and iatrogenic CJD. The World Health Organization clinical diagnostic criteria for HPDs include clinical findings, cerebrospinal fluid protein markers and electroencephalography, and the UK and European clinical diagnostic criteria include a combination of clinical findings, 14‐3‐3 protein in the cerebrospinal fluid, magnetic resonance imaging diffusion‐weighted imaging and electroencephalography. Recently, the development and clinical application of real‐time quaking‐induced conversion has allowed pre‐mortem diagnosis of sporadic CJD. The real‐time quaking‐induced conversion assay allows detection of >1 fg of PrPSc in diluted CJD brain homogenate, as well as a variety of biological tissues and cerebrospinal fluid. However, the real‐time quaking‐induced conversion assay does not provide prognostic data and has lower diagnostic accuracy for some rarer, atypical prion diseases. Furthermore, recent advancements in laboratory testing and magnetic resonance imaging diffusion‐weighted imaging have shown improved diagnostic accuracy for prion diseases. Clinical trials of prion disease treatments have recently begun in many countries. The therapeutic window consists mainly of the early stage of disease, and few clinical studies have examined the role of biomarkers at this stage. Therefore, biomarkers, imaging and clinical symptoms might be extremely important for the diagnosis of prion diseases. Clinical trials of prion disease treatments have recently begun in many countries. The therapeutic window mainly consists of the early stage of disease, and few clinical studies have examined the role of biomarkers at this stage. Therefore, biomarkers, imaging and clinical symptoms might be extremely important for the diagnosis of prion diseases. [ABSTRACT FROM AUTHOR]