Publications by authors named "Silvia Bozzetti"

10 Publications

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Antibodies to MOG in CSF only: pathological findings support the diagnostic value.

Acta Neuropathol 2021 Feb 20. Epub 2021 Feb 20.

Neurology Unit, Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Policlinico GB Rossi, P.le LA Scuro 10, 37134, Verona, Italy.

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http://dx.doi.org/10.1007/s00401-021-02286-3DOI Listing
February 2021

SARS-CoV-2 encephalitis is a cytokine release syndrome: evidences from cerebrospinal fluid analyses.

Clin Infect Dis 2021 Jan 4. Epub 2021 Jan 4.

Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Italy.

Background: Recent findings indicated that SARS-CoV-2 related neurological manifestations involve cytokine release syndrome along with endothelial activation, blood brain barrier dysfunction, and immune-mediated mechanisms. Very few studies have fully investigated the CSF correlates of SARS-CoV-2 encephalitis.

Methods: Patients with PCR-confirmed SARS-CoV-2 infection and encephalitis (COV-Enc), encephalitis without SARS-CoV-2 infection (ENC) and healthy controls (HC) underwent an extended panel of CSF neuronal (NfL, T-tau), glial (GFAP, TREM2, YKL-40) and inflammatory biomarkers (IL-1β, IL-6, Il-8, TNF- α, CXCL-13 and β2-microglobulin).

Results: Thirteen COV-Enc, 21 ENC and 18 HC entered the study. In COV-Enc cases, CSF was negative for SARS-CoV-2 real-time PCR but exhibited increased IL-8 levels independently from presence of pleocytosis/hyperproteinorracchia. COV-Enc patients showed increased IL-6, TNF- α, and β2-microglobulin and glial markers (GFAP, sTREM-2, YKL-40) levels similar to ENC but normal CXCL13 levels. Neuronal markers NfL and T-Tau were abnormal only in severe cases.

Conclusions: SARS-CoV-2-related encephalitis were associated with prominent glial activation and neuroinflammatory markers, whereas neuronal markers were increased in severe cases only. The pattern of CSF alterations suggested a cytokine-release syndrome as the main inflammatory mechanism of SARS-CoV-2 related encephalitis.
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http://dx.doi.org/10.1093/cid/ciaa1933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7799260PMC
January 2021

Epileptic seizures of suspected autoimmune origin: a multicentre retrospective study.

J Neurol Neurosurg Psychiatry 2020 Nov 28;91(11):1145-1153. Epub 2020 Aug 28.

Department of Neuroscience, Biomedicine and Movement Sciences, Section of Neurology, University of Verona, Verona, Italy

Objective: To analyse autoantibody status in a well-defined European multicentre cohort of patients with epilepsy of unknown aetiology and to validate the recently proposed Antibody Prevalence in Epilepsy (APE2) and Response to ImmunoTherapy in Epilepsy (RITE2) scores.

Methods: We retrospectively collected clinical and paraclinical data of 92 patients referred to the Neurology Units of Verona and Salzburg between January 2014 and July 2019 with new-onset epilepsy, status epilepticus or chronic epilepsy of unknown aetiology. Fixed and live cell-based assays, tissue-based assays, immunoblot, and live rat hippocampal cell cultures were performed in paired serum/cerebrospinal fluid (CSF) to detect antineuronal and antiglial antibodies. The APE2 and RITE2 scores were then calculated and compared with clinical and laboratory data.

Results: Autoantibodies were detected in 29/92 patients (31.5%), with multiple positivity observed in 6/29 cases. The APE2 score (median 5, range 1-15) significantly correlated with antibody positivity (p=0.014), especially for the presence of neuropsychiatric symptoms (p<0.01), movement disorders (p<0.01), dysautonomia (p=0.03), faciobrachial dyskinesias (p=0.03) and cancer history (p<0.01). Status epilepticus was significantly more frequent in antibody-negative patients (p<0.01). Among the items of the RITE2 score, early initiation of immunotherapy correlated with a good treatment response (p=0.001), whereas a cancer history was significantly more common among non-responders (p<0.01). Persistence of neuropsychiatric symptoms and seizures correlated with antiepileptic maintenance after at least 1 year.

Conclusions: This is the first study that independently validates the APE2 and RITE2 scores and includes the largest cohort of patients whose paired serum and CSF samples have been tested for autoantibodies possibly associated with autoimmune epilepsy.
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http://dx.doi.org/10.1136/jnnp-2020-323841DOI Listing
November 2020

Gender disparity in editorial boards of journals in neurology.

Neurology 2020 09 4;95(11):489-491. Epub 2020 Aug 4.

From the Neurology Unit (S.M., S.C., S.B.), Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona; and Section of Endocrinology (G.B., A.M.), Diabetes and Metabolism, University and Azienda Ospedaliera Universitaria Integrata of Verona, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000010500DOI Listing
September 2020

GABA receptor autoimmunity after alemtuzumab treatment for multiple sclerosis.

Neurology 2020 09 10;95(9):399-401. Epub 2020 Jul 10.

From the Department of Neurology and Stroke Unit "A. Cardarelli Hospital" (G.T.M., G.S., V.M., M.N., P.C., C.F.); Multiple Sclerosis Centre "A. Cardarelli Hospital" (G.T.M., C.F.), Naples; Neurology Unit (S.M., S.F., S.B.), Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Italy; Institute of Neurology (R.H.), Medical University of Vienna, Austria; Multiple Sclerosis Center (R.C.), ASST - Spedali Civili of Brescia, Montichiari; Department of Neuroradiology (S.G.), San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan; and Ragon Institute of Massachusetts General Hospital (M.S.), Massachusetts Institute of Technology and Harvard Medical School, Cambridge.

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http://dx.doi.org/10.1212/WNL.0000000000010310DOI Listing
September 2020

Nervous system: subclinical target of SARS-CoV-2 infection.

J Neurol Neurosurg Psychiatry 2020 09 23;91(9):1010-1012. Epub 2020 Jun 23.

Neurology Unit, Department of Neuroscience, Biomedicine, and Movement Sciences, University of Verona, Verona, Italy

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http://dx.doi.org/10.1136/jnnp-2020-323881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476308PMC
September 2020

Sural nerve biopsy: current role and comparison with serum neurofilament light chain levels.

J Neurol 2020 Oct 27;267(10):2881-2887. Epub 2020 May 27.

Neurology Unit, Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Policlinico GB Rossi, P.le LA Scuro 10, 37134, Verona, Italy.

The diagnosis of peripheral neuropathies can be challenging with consequent difficulties in patients' management. The aim of this study was to explore the current diagnostic role of sural nerve biopsy and to compare pathological findings with serum neurofilament light chain levels (NfL) as biomarkers of axonal damage. We collected demographic, clinical, and paraclinical data of patients referred over 1 year to the Neurology Unit, University of Verona, Italy, to perform nerve biopsy for diagnostic purposes, and we analyzed NfL levels in available paired sera using a high sensitive technique (Quanterix, Simoa). Eighty-two patients were identified (37.8% females, median age 65.5 years). Neuropathy onset was frequently insidious (68.3%) with a slowly progressive course (76.8%). Lower limbs were usually involved (81.7%), with a predominance of sensory over motor symptoms (74.4% vs 42.7%). The most common neuropathological findings were a demyelinating pattern (76.8%), clusters of regenerations (58.5%), and unmyelinated fibers involvement on ultrastructural evaluation (52.4%). A definite pathological diagnosis was achieved in 29 cases, and in 20.7% of patients, the referral clinical diagnosis was modified. Coexistent hematological conditions and hepatitis were diagnostic confounding factors (p = 0.012 and 0.034, respectively). In the analyzed paired sera (n = 37), an inverse despite not significant relationship between NfL values and fiber density was observed (Spearman's rho - 0.312, p = 0.056). In addition, we noted increased serum NfL values of patients with active axonal degeneration. Nerve biopsy remains a useful diagnostic investigation to achieve a correct diagnosis and guide patients' management in selected cases of peripheral neuropathy. Serum NfL is an accessible and potential valuable marker of axonal damage in these conditions.
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http://dx.doi.org/10.1007/s00415-020-09949-3DOI Listing
October 2020

A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture.

Clin Neurol Neurosurg 2019 Nov 23;186:105536. Epub 2019 Sep 23.

Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy. Electronic address:

Emery Dreifuss muscular dystrophy (EDMD) is an inherited myopathy characterized by early contractures, slow progressive muscle weakness and cardiac involvement. To date at least seven genes have been associated to EDMD with different inheritance patterns, being emerin gene responsible for the X-linked form of the disease. We report a 40-year-old man who was referred for severe gait difficulty. At age 6 years the patient presented with a waddling gate, lumbar lordosis and heel contractures. Both electrophysiology and muscle biopsy were consistent with a neurogenic disorder and he received a diagnosis of spinal muscular atrophy type 3. At the age of 30 the patient developed heart involvement with junctional escape rhythm and, eight years later, had a spontaneous chordae tendinae rupture. A new clinical examination showed severe muscular weakness and atrophy in scapulohumeroperoneal pattern with significant involvement of the lower facial and intrinsic hand muscles and on a second muscle biopsy emerin was absent by immunohistochemistry and by immunoblot analysis. Sequence analysis of EMD gene revealed the presence of a novel mutation represented by an out-of-frame deletion spanning from the beginning of exon 1 to the half of intron 2 (p.Asp6Glyfs*27). Our study expands the clinical and molecular spectrum of X-linked EDMD.
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http://dx.doi.org/10.1016/j.clineuro.2019.105536DOI Listing
November 2019

HPV-related papillary squamous cell carcinoma of the tonsil during treatment with fingolimod.

Mult Scler Relat Disord 2018 Jul 2;23:24-26. Epub 2018 May 2.

Department of Otorhinolaryngology, Bussolengo Hospital, Verona, Italy. Electronic address:

Fingolimod is a commonly used treatment for highly active relapsing-remitting multiple sclerosis (MS). We describe the case of a 50-year old man on fingolimod since 2011 who presented, in April 2017, with a voluminous swelling of the left tonsil. A left tonsillectomy was performed, and histological exam disclosed a papillary squamous cell carcinoma of the palatine tonsil, with an in situ hybridization positive for human papillomavirus (HPV)-16 DNA. Neither lymph nodes involvement nor other metastases were detected. Fingolimod was stopped as a precautionary measure in May 2017, and the patient currently continues his follow up at our Department. Immunocompromised patients are at risk for developing HPV-related malignancies probably in light of the suppression of T-cell immunity, therefore an increased risk for HPV activation in MS patients treated with disease modifying therapies (DMTs) characterized by a more pronounced immunosuppressant activity cannot be excluded. Given the absence of studies on larger cohorts of MS patients exposed to DMTs, additional monitoring for HPV infection during fingolimod treatment is not currently recommended. However, vigilance for this possible association is warranted.
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http://dx.doi.org/10.1016/j.msard.2018.04.018DOI Listing
July 2018

l-dopa-induced off: Functional overlay in Parkinson disease.

J Neurol Sci 2016 Jun 29;365:1-2. Epub 2016 Mar 29.

Neurological, Biomedical and Movement Sciences, University of Verona, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2016.03.022DOI Listing
June 2016