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Background: The coexistence of neuromyelitis optica spectrum disorders (NMOSD) with other autoimmune diseases (AID) has been increasingly reported. The prevalence and significance of this association are not fully understood., Objectives: This study aimed to compare the clinical and laboratory characteristics in NMOSD patients with and without AID., Methods: Retrospective cross-sectional observational study was conducted involving adults meeting NMOSD criteria followed in a neuroimmunology clinic at a tertiary center. Descriptive analysis of clinical/paraclinical/treatment/outcome data collected from the medical records was compared between NMOSD patients with AID (polyautoimmunity) and those without AID., Results: From a cohort of 46 NMOSD patients, 16 (34.8 %) patients, mostly women around 40 years of age, presented with polyautoimmunity: 10 anti-AQP4 positive, 4 anti-MOG positive, and 2 seronegative. Five different organ -specific AID, and six systemic AID were identified in the polyautoimmunity patients group, in addition to 6 cases of multiple autoimmune syndrome. The AID manifestation preceded NMOSD in 10 (62.5 %) patients, with a median interval of 7 years. The NMOSD with polyautoimmunity and NMOSD without AID groups had similar initial clinical manifestations with optic neuritis and/or myelitis being most frequent. Inflammatory CSF, namely elevated proteins, was more common in the polyautoimmunity group (13.0 % in NMOSD vs. 31.3 % in NMOSD+AID, p = 0.003). After a 10±6 years follow-up period, more patients with polyautoimmunity had a relapsing disease (75.0 % in NMOSD vs. 46.7 % in NMOSD+AID, p = 0.012) but no difference in the functional outcome evaluated by the EDSS score was identified., Conclusions: Polyautoimmunity was common in AQP4 positive NMOSD patients leading to a significantly higher risk of disease recorrence. The presence of polyautoimmunity and multiple autoimmune syndrome in NMOSD patients suggests the existence of common susceptibility factors or pathophysiological mechanisms, emphasizing the importance of a multidisciplinary approach to those patients., Competing Interests: Declaration of competing interest In representation of the authors, I declare that no financial support for the conduct of the research and/or preparation of the article “Polyautoimmunity and multiple autoimmune syndrome in patients with neuromyelitis optica spectrum disorder” was used., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Background: Late-onset multiple sclerosis (LOMS) is defined as the onset of symptoms above 50 years, corresponding to an increasingly recognized subset of MS. This study aimed at comparing demographic and clinical data of patients with LOMS to those of early-onset MS (EOMS) from a Portuguese cohort., Methods: Retrospective chart review of an MS cohort from a Portuguese tertiary center., Results: From 746 patients with MS (61.7% female), we identified 39 cases with presentation after 50 years of age (22 males and 17 females), corresponding to 5.3%. The mean age at onset was 55.4 (±5.0) for LOMS and 29.5 (±8.9) for EOMS. There was no significant difference in disease duration. The most common type was relapsing-remitting MS, accounting for 51.5% and 83.9% of LOMS and EOMS patients, respectively. Primary-progressive MS (PPMS) was significantly more represented in the LOMS group (41.0%) (p < 0.01). The median EDSS was significantly higher in the LOMS group (4.75, 0.0-7.5) when compared to the EOMS group (2.0, 0.0-9,0). The most frequent presenting feature was myelitis in both LOMS (48.7%) and EOMS patients (47.4%), resulting in significantly higher EDSS (p = 0.003)., Conclusions: LOMS is associated with higher EDSS when considering the same disease duration, translating into increased disability., Competing Interests: Declaration of Competing Interest The authors declare no conflicts of interest., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Introduction: Several neuroimmunological disorders have distinct phenotypes according to the age of onset, as in multiple sclerosis or myasthenia gravis. It is also described that late onset NMOSD (LONMOSD) has a different phenotype., Objective: To describe the clinical/demographic characteristics of the LONMOSD and distinguish them from those with early onset (EONMOSD)., Methods: From a nationwide Portuguese NMOSD study we analyzed the clinical/demographic characteristics of the LONMOSD., Results: From the 180 Portuguese patients 45 had disease onset after 50 years old, 80% were female. 23 had anti-AQP4 antibodies (51.1%), 13 anti-MOG antibodies (28.9%) and 9 were double seronegative (20.0%). The most common presenting phenotypes in LONMOSD were transverse myelitis (53.3%) and optic neuritis (26.7%), without difference from EONMOSD (p = 0.074). The mean EDSS for LONMOSD was 6.0 (SD=2.8), after a mean follow-up time of 4.58 (SD=4.47) years, which was significantly greater than the mean EDSS of EONMOSD (3.25, SD=1.80)(p = 0.022). Anti-AQP4 antibodies positive LONMOSD patients had increased disability compared to anti-MOG antibodies positive LONMOSD (p = 0.022). The survival analysis showed a reduced time to use a cane for LONMOSD, irrespective of serostatus (p<0.001)., Conclusions: LONMOSD has increased disability and faster progression, despite no differences in the presenting clinical phenotype were seen in our cohort., (Copyright © 2022. Published by Elsevier B.V.)

Introduction: The impact of COVID-19 in patients with neuroimmunological disorders is not fully established. There is some evidence suggesting an increased risk of more severe infection associated with the use of immunosuppressors in this population., Objective: To characterize SARS-CoV-2 infection in patients followed in the neuroimmunology outpatient clinic of a tertiary centre from the north of Portugal., Methods: Retrospective analysis of neuroimmunological patients with PCR-proven SARS-CoV-2 infection during the observational period of 20 months., Results: Ninety-one patients were infected, 68.1% female, with a mean age of 48.9±16.7 years. The median disease duration was 11.0 (IQR 6.0-19.0) years. Sixty-one patients (67.0%) had Multiple Sclerosis, of which 50 with relapsing-remitting course, 12 (13.2%) Myasthenia Gravis (MG), 6 (6.6%) Autoimmune Encephalitis and 6 (6.6%) Chronic Inflammatory Demyelinating Polyneuropathy. Seventy-six patients (83.5%) were taking disease-modifying therapy, 77.6% of which were on immunosuppressants, including anti-CD20 in 12 (13.2%). Most patients had mild COVID-19 (84.6%), with 3 cases (3.3%) of severe disease and, 7 cases (7.7%) of critical disease being reported. In total, 13 patients were hospitalized and 4 died. Patients with severe to critical disease were significantly older than patients with milder forms (69.4±21.0 versus 46.5±14.4 years, p<0.01). MG was also associated with more severe disease (p=0.02). There was no association between comorbidities or use of immunosuppressors (including anti-CD20) and COVID-19 severity., Conclusions: Greater age and MG were associated with severe or critical COVID-19. We found no association between a specific DMT, including anti-CD20, and outcome. Clinical recovery was achieved by 93.4%., (Copyright © 2022. Published by Elsevier B.V.)

Introduction: Neuromyelitis optica spectrum disorder (NMOSD) is a rare disorder in which astrocyte damage and/or demyelination often cause severe neurological deficits., Objective: To identify Portuguese patients with NMOSD and assess their epidemiological/clinical characteristics., Methods: This was a nationwide multicenter study. Twenty-four Portuguese adult and 3 neuropediatric centers following NMOSD patients were included., Results: A total of 180 patients met the 2015 Wingerchuk NMOSD criteria, 77 were AQP4-antibody positive (Abs+), 67 MOG-Abs+, and 36 seronegative. Point prevalence on December 31, 2018 was 1.71/100,000 for NMOSD, 0.71/100,000 for AQP4-Abs+, 0.65/100,000 for MOG-Abs+, and 0.35/100,000 for seronegative NMOSD. A total of 44 new NMOSD cases were identified during the two-year study period (11 AQP4-Abs+, 27 MOG-Abs+, and 6 seronegative). The annual incidence rate in that period was 0.21/100,000 person-years for NMOSD, 0.05/100,000 for AQP4-Abs+, 0.13/100,000 for MOG-Abs+, and 0.03/100,000 for seronegative NMOSD. AQP4-Abs+ predominated in females and was associated with autoimmune disorders. Frequently presented with myelitis. Area postrema syndrome was exclusive of this subtype, and associated with higher morbidity/mortality than other forms of NMOSD. MOG-Ab+ more often presented with optic neuritis, required less immunosuppression, and had better outcome., Conclusion: Epidemiological/clinical NMOSD profiles in the Portuguese population are similar to other European countries., (Copyright © 2021. Published by Elsevier B.V.)

Background: Mood disorders, as depression and anxiety, are frequent in Multiple Sclerosis (MS) patients. High pro-inflammatory cytokine levels (e.g. IL-1β) have been reported in depressed individuals., Objective: We aimed to investigate the role of the rs16944 (IL-1β-511 C>T) polymorphism in the development of anxiety and depression symptoms in a Portuguese cohort of MS patients., Methods: 393 MS patients answered the Hospital Anxiety and Depression Scale (HADS) at T1. This questionnaire was reapplied to a subgroup of 175 MS patients approximately three years later (T2). HADS cut-off scores for anxiety and depression were respectively ≥11 and ≥8., Results: At T1, anxiety was found in 106 MS patients (27.0%) and 11 controls (16.7%); whereas depression was identified in 116 (29.5%) MS patients and 9 controls (13.6%). Persistent anxiety and depression were respectively recorded in 12% and 20% of MS patients. The rs16944TT genotype was found to be a susceptibility factor for the occurrence of depression at T1 (OR = 3.16, p=0.002) and the development of persistent depression (OR = 5.63, p=0.003) in MS., Conclusion: Study results support the hypothesis that inflammation is a significant factor in psychopathology development., (Copyright © 2021. Published by Elsevier B.V.)

Background: Olfactory dysfunction has been linked to clinical severity variables in multiple MS populations. Though, its prognostic value is still unknown., Objective: The aim of this study was to explore the long-term outcome associated with Brief-Smell Identification Test (B-SIT) performance in a cohort of MS patients., Methods: A retrospective review of the clinical records was conducted in 149 patients who participated in a previous study, with a median follow-up of 121 months. Demographic and clinical data regarding the last clinical appointment with EDSS measurement were collected. Multiple Sclerosis Severity Scale (MSSS) and Age-Related Multiple Sclerosis Severity (ARMSS) scores were calculated. Date of the last clinical contact or death was recorded., Results: Among MS patients with progressive clinical course (n = 33), those with impaired B-SIT at baseline had greater change per month during follow-up (as measured by increases in MSSS and ARMSS scores) and a higher hazard of death. No significant associations were found among patients with relapsing and remitting MS (n = 116)., Conclusions: The study results demonstrate that odor identification impairment has prognostic value in progressive MS, suggesting that a brief odor identification measure can be a marker of neurodegeneration in progressive MS., (Copyright © 2020. Published by Elsevier B.V.)