Neuropathic pain in CASPR2 antibody disease spectrum: A systematic review.

Background: Contactin-associated protein-like 2 (CASPR2) antibodies are mainly linked to acquired neuromyotonia, limbic encephalitis and Morvan syndrome. Nevertheless, neuropathic pain is increasingly reported, though data on its characteristics remain limited. Here, we describe a patient with isolated neuropathic pain associated with CASPR2 antibodies and we conducted a systematic review to better define this relevant presentation.

Prevalence of hereditary transthyretin amyloidosis in CIDP patients with red flags: a multicenter genetic screening and misdiagnosis analysis.

Background: Hereditary transthyretin amyloidosis (ATTRv) is a rare, multisystemic disorder often presenting with peripheral neuropathy and can be misdiagnosed with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), especially in non-endemic areas. While clinical red flags have been proposed to aid diagnosis, their predictive value remains uncertain. This study prospectively assessed the prevalence of TTR variants in CIDP patients with red flags for ATTRv and retrospectively analyzed features of genetically confirmed ATTRv cases initially misdiagnosed as CIDP.

Revised renal stratification and progression models for predicting long-term renal outcomes in immunoglobulin light chain amyloidosis.

Renal prognosis in light-chain amyloidosis (AL) is determined by categorizing patients into three renal stages at diagnosis and assessing Renal Response or Renal Progression following chemotherapy after 6 months. We evaluated, in a test (N=1935) cohort of patients with renal AL amyloidosis who were followed for a median of 95 months, a modified 4-stage model where Renal Stage 2 was sub-categorized according to preserved (2A) or reduced (2B) estimated Glomerular Filtration Rate (eGFR). A hybrid model for evaluation of Renal Progression was also introduced, using an eGFR cut-off of 30ml/min/1.

Validation of the "Patient-Acceptable Symptom State" Question as Outcome Measure in AChR Myasthenia Gravis: A Multicentre, Prospective Study.

Introduction: Patient Acceptable Symptom State (PASS) is emerging as a valuable subjective measure of the overall myasthenia gravis (MG)-related burden. This study aimed at identifying PASS-positive thresholds for the most used clinical scales, investigating whether PASS and MGFA post-intervention status capture different aspects of the disease outcome, and identifying clinical variables associated with PASS=YES response.

Methods: Adult AChR-MG patients were prospectively enrolled at two Italian Centres (Rome: index cohort; Florence: validation cohort).

Change in prevalence of ATTR variants in Italy - Results from a National Survey.

Introduction: Hereditary transthyretin amyloidosis (ATTRv) is a rare, heterogenous, inherited disorder caused by over 130 gene mutations. Its prevalence was estimated to 4.33/million in 2020 in Italy.

Patisiran in ATTRv amyloidosis with polyneuropathy: "PatisiranItaly" multicenter observational study.

Background: Hereditary amyloid transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a rare, inherited, multisystemic, progressive adult-onset disease, affecting sensorimotor nerves, and various organs. It is caused by mutations in the TTR gene, leading to misfolded monomers that aggregate, forming amyloid fibrils. Patisiran is a small, double-stranded interfering RNA encapsulated in a lipid nanoparticle, designed to enter hepatocytes and selectively target TTR mRNA to reduce both variant TTR and wild-type TTR (wt).

Post-infective neuromuscular hyperexcitability syndrome in a young man with cystic fibrosis: A case report.

Cystic fibrosis (CF)-related central (CNS) and peripheral nervous system (PNS) disorders have not yet been fully described. We report the first case of post-infective neuromuscular hyperexcitability syndrome in a 23-year-old male patient with CF and pulmonary exacerbation. CNS radiological investigations were unremarkable and no autoantibodies were detected.

Leptomeningeal enhancement in multiple sclerosis: a focus on patients treated with hematopoietic stem cell transplantation.

Background: Leptomeningeal enhancement (LME) is considered an MRI marker of leptomeningeal inflammation in inflammatory neurological disorders, including multiple sclerosis (MS). To our knowledge, no disease-modifying therapies (DMTs) have been demonstrated to affect LME number or morphology so far.

Methods: Monocentric study investigating the frequency and number of LME in a cohort of people with (pw)MS who performed a 3 T brain MRI with a standardized protocol (including a post-contrast FLAIR sequence), and exploring the impact of autologous hematopoietic stem cell transplantation (AHSCT) on this marker.

Successful switch to ofatumumab after liver injury associated with ocrelizumab treatment in multiple sclerosis: a case report.

Drug-induced liver injury (DILI) is a potential adverse event of disease-modifying therapies (DMTs) for the treatment of multiple sclerosis (MS), as well as of methylprednisolone pulsed therapy used in case of MS relapse. DILI may be induced by different mechanisms, including idiosyncratic reaction, autoimmune hepatitis or viral reactivation. In patients receiving the humanized anti-CD20 monoclonal antibody (mAb) ocrelizumab, DILI has been rarely reported and was mostly associated with hepatitis B virus (HBV) reactivation.

Case report: 3D intracranial vessel wall MRI in Susac syndrome: potential relevance for diagnosis and therapeutic management.

Background: Susac syndrome (SS) is a rare immune-mediated vasculitis affecting retina, inner ear and brain. Assessment of central nervous system (CNS) involvement is currently based on standard brain magnetic resonance imaging (MRI) sequences. Accuracy of three dimensional (3D)-vessel wall imaging (VWI) was compared to standard sequences and contrast-enhanced-3D T2-fluid attenuated inversion recovery (CE-FLAIR) to assess CNS disease activity in two cases of definite SS.

Epidemiology of amyotrophic lateral sclerosis in the north east Tuscany in the 2018-2021 period.

Background: The incidence of Amyotrophic Lateral Sclerosis (ALS) varies among different geographical areas and seems to increase over time. This study aimed to examine the epidemiologic data of ALS in the north-east Tuscany and compare the results with those of similar surveys.

Methods: Data from ALS cases diagnosed in Florence and Prato Hospitals were prospectively collected from 1st June 2018 to 31st May 2021.

Safety and effectiveness of the booster dose of mRNA COVID-19 vaccines in people with multiple sclerosis: A monocentric experience.

Background: Long-term data on the effectiveness and safety of the booster dose of anti-SARS-CoV-2 vaccines in people affected by multiple sclerosis (pwMS) are lacking, hence a retrospective monocentric study exploring these issues was undertaken.

Materials And Methods: PwMS who had received the booster dose of anti-COVID19 mRNA vaccines (either Comirnaty or Spikevax) according to the national regulation were included. The occurrence of adverse events or disease reactivation and SARS-CoV-2 infection were recorded up to last follow-up.

Long-term-video monitoring EEG and 18F-FDG-PET are useful tools to detect residual disease activity in anti-LGI1-Abs encephalitis: A case report.

Background: The use of CD20-depleting monoclonal antibodies has shown to improve the long-term outcome of patients with anti-leucine-rich glioma-inactivated protein 1 antibodies (anti-LGI1-Abs) encephalitis after first-line immunotherapy, but currently predictive markers of treatment response and disease activity are lacking.

Case Presentation: A 75-year-old man presented cognitive impairment and faciobrachial dystonic seizures (FBDS), with mild abnormalities at electroencephalography (EEG), normal brain magnetic resonance and cerebrospinal fluid (CSF) analysis. Anti-LGI1-Abs were detected in serum and CSF, and corticosteroids and intravenous immunoglobulins were administered.

Safety and tolerability of SARS-Cov-2 vaccination in patients with myasthenia gravis: A multicenter experience.

Background And Purpose: During the COVID-19 pandemic, myasthenia gravis (MG) patients have been identified as subjects at high risk of developing severe COVID-19, and thus were offered vaccination with priority. The lack of direct data on the safety and tolerability of SARS-CoV-2 vaccines in MG have contributed to vaccine hesitancy. To address this issue, the safety and tolerability of SARS-CoV-2 vaccines were assessed in a large cohort of MG patients from two referral centers.

Intermediate-Intensity Autologous Hematopoietic Stem Cell Transplantation Reduces Serum Neurofilament Light Chains and Brain Atrophy in Aggressive Multiple Sclerosis.

Background: Autologous haematopoietic stem cell transplantation (AHSCT) is highly effective in reducing new inflammatory activity in aggressive multiple sclerosis (MS). A remarkable decrease of serum neurofilament light chains (sNfL) concentration, a marker of axonal damage, was reported in MS following high-intensity regimen AHSCT, but hints for potential neurotoxicity had emerged. sNfL and brain atrophy were therefore analysed in a cohort of patients with aggressive MS treated with intermediate-intensity AHSCT, exploring whether sNfL might be a reliable marker of disability progression independent from new inflammation (i.

Effect of disease-modifying treatments on antibody-mediated response to anti-COVID19 vaccination in people with multiple sclerosis.

Background: Few data are available so far on the antibody-mediated immune response to anti-SARS-Cov2 vaccination in people with multiple sclerosis (pwMS) treated with disease-modifying treatments (DMTs), therefore this issue was explored in a real-life cohort of pwMS.

Materials And Methods: Retrospective monocentric study on anti-spike protein antibody response in pwMS who had received vaccination for Sars-Cov2. Adverse events following vaccination were also recorded.

Incidence of malignant neoplasms and mortality in people affected by multiple sclerosis in the epoch of disease-modifying treatments: A population-based study on Tuscan residents.

Background: Conflicting data are currently available on the risk of malignancies in people affected by multiple sclerosis (pwMS), and the potential relative contribution to this risk of disease-modifying therapies (DMTs) is still debated. Moreover, data on the long-term prognosis of pwMS mostly derive from natural history studies and updated observations during the treatment era are lacking.

Methods: Incidence of cancer and mortality were analysed in a pwMS cohort of residents of Tuscany over a 17-year period of observation during the treatment era and compared with the rates observed in a 1:10 sex- and age-matched control population resident in the same geographical area.

Autologous haematopoietic stem cell transplantation versus low-dose immunosuppression in secondary-progressive multiple sclerosis.

Background And Purpose: Effectiveness of autologous haematopoietic stem cell transplantation (AHSCT) in relapsing-remitting multiple sclerosis (MS) is well known, but in secondary-progressive (SP)-MS it is still controversial. Therefore, AHSCT activity was evaluated in SP-MS using low-dose immunosuppression with cyclophosphamide (Cy) as a comparative treatment.

Methods: In this retrospective monocentric 1:2 matched study, SP-MS patients were treated with intermediate-intensity AHSCT (cases) or intravenous pulses of Cy (controls) at a single academic centre in Florence.

TCR repertoire diversity in Multiple Sclerosis: High-dimensional bioinformatics analysis of sequences from brain, cerebrospinal fluid and peripheral blood.

Background: T cells play a key role in the pathogenesis of multiple sclerosis (MS), a chronic, inflammatory, demyelinating disease of the central nervous system (CNS). Although several studies recently investigated the T-cell receptor (TCR) repertoire in cerebrospinal fluid (CSF) of MS patients by high-throughput sequencing (HTS), a deep analysis on repertoire similarities and differences among compartments is still missing.

Methods: We performed comprehensive bioinformatics on high-dimensional TCR Vβ sequencing data from published and unpublished MS and healthy donors (HD) studies.

Polyneuropathy and monoclonal gammopathy of undetermined significance (MGUS); update of a clinical experience.

Background And Purpose: Polyneuropathies associated with monoclonal gammopathy of undetermined significance (MGUS) encompass a group of phenotypically and immunologically heterogeneous neuropathies. While the best characterized is that associated with anti-myelin glycoprotein (MAG) antibodies, there are phenotypical and immunological neuropathy variants that still lack a clear classification. We analyzed a significant number of patients, in order to better evaluate the distribution of neuropathy phenotypes and to look for some common characteristics.

Sustained disease remission after discontinuation of disease modifying treatments in relapsing-remitting multiple sclerosis.

Background: The natural history of multiple sclerosis (MS) following discontinuation of a first-line disease-modifying treatment (DMT) in relapsing-remitting (RR-) MS patients is controversial, as few data are available on the risk of disease reactivation. This study aims to investigate the disease course after DMT discontinuation in selected RR-MS patients, exploring potential predictive factors of disease reactivation.

Methods: RR-MS patients, aged 18-65, who had discontinued a first-line DMT were selected from 1107 clinical records.

Impact of autologous haematopoietic stem cell transplantation on disability and brain atrophy in secondary progressive multiple sclerosis.

Background: Autologous haematopoietic stem cell transplantation (aHSCT) is a valuable option in aggressive relapsing-remitting multiple sclerosis (MS), but its efficacy in secondary progressive (SP)-MS is still controversial.

Objective: Assessing efficacy of aHSCT in SP-MS by clinical-radiological outcomes.

Methods: Open-label monocentric retrospective study enrolling consecutive SP-MS patients treated with BEAM-aHSCT in the period 1999-2016.