Alessandro Barilaro

Differences in mesenchymal stem cell cytokine profiles between MS patients and healthy donors: implication for assessment of disease activity and treatment.

MSCs have been proposed as possible treatment in MS: In this study MSCs obtained from 10 MS patients and 6 healthy donors (HD) were compared in terms of phenotypical and functional characteristics. We show that MSCs isolated from MS and HD differ significantly for IP10 production. Therefore, although MSCs isolated from MS patients exhibit the same properties of HD MSCs in terms of proliferation, phenotype, in vitro differentiation, TLR expression, immunosuppressive ability, inhibition of DC differentiation and activation, the use of autologous MSCs in cell therapy of autoimmune diseases should be submitted to attentive evaluation and treatment.

IgM monoclonal gammopathy–associated neuropathies with different IgM specificity

Background and purpose:  Antibodies directed against myelin‐associated glycoprotein (MAG) are believed to be the most frequent biologic marker of the neuropathies associated with IgM monoclonal gammopathy of undetermined significance (MGUS). The objective of this study was to examine the prevalence of antiganglioside and/or sulfatide‐positive patients and their clinical findings, including therapeutic response, compared to anti‐MAG‐positive or seronegative patients.

Central vein sign differentiates Multiple Sclerosis from central nervous system inflammatory vasculopathies

In multiple sclerosis (MS), magnetic resonance imaging (MRI) is a sensitive tool for detecting white matter lesions, but its diagnostic specificity is still suboptimal; ambiguous cases are frequent in clinical practice. Detection of perivenular lesions in the brain (the “central vein sign”) improves the pathological specificity of MS diagnosis, but comprehensive evaluation of this MRI biomarker in MS‐mimicking inflammatory and/or autoimmune diseases, such as central nervous system (CNS) inflammatory vasculopathies, is lacking. In a multicenter study, we assessed the frequency of perivenular lesions in MS versus systemic autoimmune diseases with CNS involvement and primary angiitis of the CNS (PACNS).

Immunohistochemistry analysis of bone marrow biopsies in multiple sclerosis patients undergoing autologous haematopoietic stem cells transplantation

OBJECTIVE Recently autologous haematopoietic stem cell transplantation (AHSCT) has been introduced for the treatment of severe forms of multiple sclerosis (MS). As little data are available on bone marrow (BM) of MS patients undergoing AHSCT, we investigated the morphological and phenotypic characteristics of MS BM. METHODS BM biopsies of 14 MS patients screened for AHSCT and 10 control patients were evaluated to assess cellularity, morphology, immunological profile and bone marrow microenvironment. Immunohistochemistry analysis was performed to evaluate the expression of CD3, CD4, CD8, CD20, CD68, CD45, MMP-9. RESULTS 8 out of 14 MS (57%) patients showed a reduction of age-related bone marrow cellularity, possibly due to previous immunosuppressive therapies. There were no differences in the T CD3+ lymphocyte expression rate amongst MS and the control patients, the CD4/CD8 ratio (2:1) was maintained as was the rate of B lymphocytes. We found an increased, although not significant, MMP-9 expression (9.2%) in the bone marrow of MS patients, when compared to the control patients (6.3%). CONCLUSION The BM of MS patients showed a reduced cellularity and CD45+ cells content in comparison to the controls. A slightly increased expression of MMP-9 was also shown, possibly confirming an involvement of this compartment in the pathogenesis of the disease.

Diagnostic accuracy of neurophysiological criteria for early diagnosis of AIDP: A prospective study.

OBJECTIVE To assess the diagnostic accuracy of electrodiagnostic (EDX) criteria for the early detection and characterization of Guillain-Barré syndrome (GBS) in clinical practice. METHODS We conducted a prospective study in patients referred for an EDX exam with clinical suspicion of GBS. We evaluated four sets of neurophysiological criteria and four neurophysiological tests among those recently proposed for the early diagnosis of GBS. RESULTS We recruited 84 patients. Acute inflammatory demyelinating polyneuropathy (AIDP) was the final diagnosis in 23 patients. No axonal forms were found. The best sensitivity was obtained using Rajabally et al.s criteria (82.1%), whereas the specificity was 90.0% for Ho et al.s and Hadden et al.s criteria and 100% for the Dutch GBS study group and Rajaballys criteria. Regarding the neurophysiological tests proposed for early diagnosis, the sensitivity ranged from 16.6 to 100%, whereas specificity ranged from 73.1 to 98.3%. CONCLUSION The Dutch GBS study group and Rajabally et al.s criteria showed an optimal combination of sensitivity and specificity for clinical practice, although with a slightly higher sensitivity for Rajabally et al.s criteria. None of the neurophysiological parameters recently proposed for early diagnosis have good diagnostic accuracy for clinical application. SIGNIFICANCE In a real clinical setting with patients referred by neurologists and emergency doctors, an EDX study performed within a week of symptom onset supports the diagnosis of AIDP in 82% of cases.

Neuromyelitis optica, atypical hemophagocytic lymphohistiocytosis and heterozygous perforin A91V mutation.

Neuromyelitis optica is an autoimmune demyelinating inflammatory disease characterized by optic neuritis and myelitis with anti-aquaporin 4 antibodies. Hemophagocytic lymphohistiocytosis is a severe systemic inflammatory syndrome that can present in a genetic primary form or secondarily to infective, neoplastic or autoimmune diseases. Our case discusses the first reported case of atypical late-onset hemophagocytic lymphohistiocytosis in a patient with neuromyelitis optica, with multiple triggering factors and carrying the common A91V hypomorphic perforin mutation, that blurs the distinction between primary and secondary forms.

Moyamoya in a patient with Sneddon's syndrome.

NEUROFARBA Department, Neuroscience Section, University of Florence, Florence, Italy SOD Neurologia 2, Neuroscience Department, Azienda Ospedaliero Universitaria Careggi, Florence, Italy SOD Oculistica, Department of Translational Surgery and Medicine, Florence, Italy Department of Surgery and Translational Medicine, Division of Dermatology, University of Florence, Florence, Italy Department of Surgery and Translational Medicine, Division of Pathological Anatomy, University of Florence, Florence, Italy Stroke Unit and Neurology, Cardiovascular Department, Azienda Ospedaliero Universitaria Careggi, Florence, Italy

CSF/serum matrix metallopeptidase‐9 ratio discriminates neuro Behçet from multiple sclerosis

In neuro Behçet disease with multiple sclerosis‐like features, diagnosis could be challenging. Here, we studied the cerebrospinal fluid and serum inflammatory profile of 11 neuro Behçet and 21 relapsing‐remitting multiple sclerosis patients. Between the soluble factors analyzed (MMP9, TNFα, IL6, CXCL13, CXCL10, CXCL8, IFNγ, IL10, IL17, IL23, and others) we found MMP9 increased in neuro Behçet serum compared to multiple sclerosis and decreased in cerebrospinal fluid. Furthermore, neuro Behçet analysis of circulating natural killer CD56DIM subset suggests their potential involvement in increased MMP9 production. We believe that these findings may have a translational utility in clinical practice.

Susceptibility weighted MRI can help differentiating pathogenesis of white matter lesions in MS and CNS inflammatory vasculopathies.

cancelled 144 Poster presentation with discussion