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Article ; Online: Characterization of SOD1-DT, a Divergent Long Non-Coding RNA in the Locus of the SOD1 Human Gene.

Guerra, Marika / Meola, Lucia / Lattante, Serena / Conte, Amelia / Sabatelli, Mario / Sette, Claudio / Bernardini, Camilla

Cells

2023 Volume 12, Issue 16

Abstract: Researchers studying Amyotrophic Lateral Sclerosis (ALS) have made significant efforts to find a unique mechanism to explain the etiopathology of the different forms of the disease. However, despite several mutations associated with ALS having been ... ...

Abstract	Researchers studying Amyotrophic Lateral Sclerosis (ALS) have made significant efforts to find a unique mechanism to explain the etiopathology of the different forms of the disease. However, despite several mutations associated with ALS having been discovered in recent years, the link between the mutated genes and its onset has not yet been fully elucidated. Among the genes associated with ALS, superoxide dismutase 1 (SOD1) was the first to be identified, but its role in the etiopathogenesis of the disease is still unclear. In recent years, research has been focused on the non-coding part of the genome to fully understand the mechanisms underlying gene regulation. Non-coding RNAs are conserved molecules and are not usually translated in protein. A total of 98% of the human genome is composed of non-protein coding sequences with roles in the transcriptional and post-transcriptional regulation of gene expression. In this study, we characterized a divergent nuclear lncRNA (SOD1-DT) transcribed in the antisense direction from the 5' region of the SOD1 coding gene in both the SH-SY5Y cell line and fibroblasts derived from ALS patients. Interestingly, this lncRNA seems to regulate gene expression, since its inhibition leads to the upregulation of surrounding genes including SOD1. SOD1-DT represents a very complex molecule, displaying allelic and transcriptional variability concerning transposable elements (TEs) included in its sequence, widening the scenario of gene expression regulation in ALS disease.
MeSH term(s)	Humans ; RNA, Long Noncoding/genetics ; Superoxide Dismutase-1/genetics ; Amyotrophic Lateral Sclerosis/genetics ; Neuroblastoma ; Alleles
Chemical Substances	RNA, Long Noncoding ; Superoxide Dismutase-1 (EC 1.15.1.1) ; SOD1 protein, human
Language	English
Publishing date	2023-08-13
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2661518-6
ISSN	2073-4409 ; 2073-4409
ISSN (online)	2073-4409
ISSN	2073-4409
DOI	10.3390/cells12162058
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Article ; Online: Reassessing IVIg therapy in chronic inflammatory demyelinating polyradiculoneuropathy during COVID-19: a chance to verify the need for chronic maintenance therapy.

Romozzi, Marina / Bisogni, Giulia / Sabatelli, Mario / Luigetti, Marco

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

2021 Volume 42, Issue 3, Page(s) 787–789

Abstract: The outbreak of a severe acute respiratory syndrome caused by a novel coronavirus (COVID-19), has raised health concerns for patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), who are frequently on long-term immunotherapies. ... ...

Abstract	The outbreak of a severe acute respiratory syndrome caused by a novel coronavirus (COVID-19), has raised health concerns for patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), who are frequently on long-term immunotherapies. Treatment with IVIg does not increase the risk of contracting COVID-19, and the IVIg administration may have a protective role. However, infusions can expose patients to an increased risk of contracting SARS-CoV-2 due to repeated access to Health Facilities. In this report we analyzed the short-term follow-up of CIDP patients who modified their chronic IVIg therapy during pandemic. About half of CIDP patients regularly treated with IVIg tried to stop treatment and about 10% shifted to SCIg. Forty-two percent of the patients who stopped the treatment reported a clinical deterioration after suspension and had to restart IVIg. This study demonstrated that in selected cases it is possible to successfully stop the chronic IVIg treatment, even in patients who have been treated for several years.
MeSH term(s)	Adult ; Aged ; COVID-19 ; Female ; Humans ; Immunoglobulins, Intravenous/administration & dosage ; Male ; Middle Aged ; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/drug therapy ; SARS-CoV-2
Chemical Substances	Immunoglobulins, Intravenous
Language	English
Publishing date	2021-01-11
Publishing country	Italy
Document type	Journal Article
ZDB-ID	2016546-8
ISSN	1590-3478 ; 1590-1874
ISSN (online)	1590-3478
ISSN	1590-1874
DOI	10.1007/s10072-020-04983-5
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Zs.A 1877: Show issues

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Article ; Online: MOG autoimmunity mimicking CLIPPERS syndrome: Case report and literature review.

Ferilli, Michela Ada Noris / Papi, Claudia / Sabatelli, Mario / Colosimo, Cesare / Iorio, Raffaele

Journal of neuroimmunology

2022 Volume 367, Page(s) 577875

Abstract: Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory syndrome characterized by the predominant involvement of the pons, the cerebellum and the spinal cord with a distinct ... ...

Abstract	Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory syndrome characterized by the predominant involvement of the pons, the cerebellum and the spinal cord with a distinct corticosteroid responsiveness. To date, several cases of neurological disorders with a CLIPPERS-like phenotype have been described, including patients with Immunoglobulin G (IgG) antibodies binding to myelin oligodendrocyte glycoprotein (MOG). We herein report the case of a man with myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) fulfilling the diagnostic criteria for probable CLIPPERS and a literature review of CLIPPERS-mimicking patients with MOG-IgG.
MeSH term(s)	Autoimmunity ; Humans ; Immunoglobulin G ; Magnetic Resonance Imaging ; Myelin-Oligodendrocyte Glycoprotein ; Pons ; Syndrome
Chemical Substances	Immunoglobulin G ; Myelin-Oligodendrocyte Glycoprotein
Language	English
Publishing date	2022-04-22
Publishing country	Netherlands
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	8335-5
ISSN	1872-8421 ; 0165-5728
ISSN (online)	1872-8421
ISSN	0165-5728
DOI	10.1016/j.jneuroim.2022.577875
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Zs.A 1646: Show issues

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Article ; Online: Histamine beyond its effects on allergy: Potential therapeutic benefits for the treatment of Amyotrophic Lateral Sclerosis (ALS).

Volonté, Cinzia / Apolloni, Savina / Sabatelli, Mario

Pharmacology & therapeutics

2019 Volume 202, Page(s) 120–131

Abstract: ALS currently remains a challenge despite many efforts in performing successful clinical trials and formulating therapeutic solutions. By learning from current failures and striving for success, scientists and clinicians are checking every possibility to ...

Abstract	ALS currently remains a challenge despite many efforts in performing successful clinical trials and formulating therapeutic solutions. By learning from current failures and striving for success, scientists and clinicians are checking every possibility to search for missing hints and efficacious treatments. Because the disease is very complex and heterogeneous and, moreover, targeting not only motor neurons but also several different cell types including muscle, glial, and immune cells, the right answer to ALS is conceivably a multidrug strategy or the use of broad-spectrum molecules. The aim of the present work is to gather evidence about novel perspectives on ALS pathogenesis and to present recent and innovative paradigms for therapy. In particular, we describe how an old molecule possessing immunomodulatory and neuroprotective functions beyond its recognized effects on allergy, histamine, might have a renewed and far-reaching momentum in ALS.
MeSH term(s)	Amyotrophic Lateral Sclerosis/drug therapy ; Animals ; Histamine/pharmacology ; Histamine/therapeutic use ; Humans ; Hypersensitivity/drug therapy ; Immunologic Factors/pharmacology ; Immunologic Factors/therapeutic use ; Motor Neurons/drug effects ; Neuroprotective Agents/pharmacology ; Neuroprotective Agents/therapeutic use
Chemical Substances	Immunologic Factors ; Neuroprotective Agents ; Histamine (820484N8I3)
Language	English
Publishing date	2019-06-22
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	194735-7
ISSN	1879-016X ; 0163-7258
ISSN (online)	1879-016X
ISSN	0163-7258
DOI	10.1016/j.pharmthera.2019.06.006
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Zs.A 1183: Show issues

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Article ; Online: Hospital admissions from the emergency department of adult patients affected by myopathies.

Monforte, Mauro / Torchia, Eleonora / Bortolani, Sara / Ravera, Beatrice / Ricci, Enzo / Silvestri, Gabriella / Servidei, Serenella / Primiano, Guido / Mirabella, Massimiliano / Sabatelli, Mario / Mercuri, Eugenio / Franceschi, Francesco / Calabresi, Paolo / Covino, Marcello / Tasca, Giorgio

European journal of neurology

2024 Volume 31, Issue 5, Page(s) e16214

Abstract: Background and purpose: Myopathies are associated with classic signs and symptoms, but also with possible life-threatening complications that may require assistance in an emergency setting. This phenomenon is understudied in the literature. We aimed to ... ...

Abstract	Background and purpose: Myopathies are associated with classic signs and symptoms, but also with possible life-threatening complications that may require assistance in an emergency setting. This phenomenon is understudied in the literature. We aimed to assess the presentation, management, and outcomes of clinical manifestations potentially related to a muscle disorder requiring referral to the adult emergency department (ED) and hospitalization. Methods: Anonymized patient data retrieved using the International Classification of Diseases, Ninth Revision codes related to muscle disorders over 4 years were retrospectively analyzed. Medical reports were evaluated to extract demographic and clinical variables, along with outcomes. Two groups were defined based on the presence (known diagnosis [KD] group) or absence (unknown diagnosis [UD] group) of a diagnosed muscle disorder at arrival. Results: A total of 244 patients were included, 51% of whom were affected by a known myopathy, predominantly limb-girdle muscular dystrophies and myotonic dystrophies. The main reasons for ED visits in the KD group were respiratory issues, worsening of muscle weakness, and gastrointestinal problems. Heart complications were less prevalent. In the UD group, 27 patients received a new diagnosis of a specific primary muscle disorder after the ED access, mostly an inflammatory myopathy. Death during hospitalization was recorded in 26 patients, with a higher rate in the KD group and in patients affected by mitochondrial and inflammatory myopathies. Sepsis and dyspnea were associated with increased death risk. Conclusions: Respiratory complications are the most common reason for myopathic patients accessing the ED, followed by gastrointestinal issues. Infections are severe threats and, once hospitalized, these patients have relatively high mortality.
MeSH term(s)	Adult ; Humans ; Retrospective Studies ; Hospitalization ; Muscular Diseases/epidemiology ; Muscular Diseases/therapy ; Myositis/complications ; Myositis/diagnosis ; Myositis/epidemiology ; Emergency Service, Hospital ; Hospitals
Language	English
Publishing date	2024-01-16
Publishing country	England
Document type	Journal Article
ZDB-ID	1280785-0
ISSN	1468-1331 ; 1351-5101 ; 1471-0552
ISSN (online)	1468-1331
ISSN	1351-5101 ; 1471-0552
DOI	10.1111/ene.16214
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Zs.A 4738: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 592: Show issues

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Article: Peripheral Nervous System Involvement in Lymphoproliferative Disorders.

Sabatelli, Mario / Laurenti, Luca / Luigetti, Marco

Mediterranean journal of hematology and infectious diseases

2018 Volume 10, Issue 1, Page(s) e2018057

Abstract: Peripheral neuropathies are a vast group of diseases with heterogeneous aetiologies, including genetic and acquired causes. Several haematological disorders may cause an impairment of the peripheral nervous system, with diverse mechanisms and variable ... ...

Abstract	Peripheral neuropathies are a vast group of diseases with heterogeneous aetiologies, including genetic and acquired causes. Several haematological disorders may cause an impairment of the peripheral nervous system, with diverse mechanisms and variable clinical, electrophysiological and pathological manifestations. In this practical review, we considered the main phenotypes of peripheral nervous system diseases associated with lymphoproliferative disorders. The area of intersection of neurological and haematological fields is of particular complexity and raises specific problems in the clinical practice of lymphoproliferative disorders. The personal crosstalk between neurologists and haematologists remains a fundamental tool for a proper diagnostic process which may lead to successful treatments in most cases.
Language	English
Publishing date	2018-09-01
Publishing country	Italy
Document type	Journal Article ; Review
ZDB-ID	2674750-9
ISSN	2035-3006
ISSN	2035-3006
DOI	10.4084/MJHID.2018.057
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Article ; Online: Guillain-Barré syndrome from an emergency department view: how to better predict the outcome?

Covino, Marcello / Romozzi, Marina / Simeoni, Benedetta / Di Paolantonio, Andrea / Sabatelli, Mario / Franceschi, Francesco / Luigetti, Marco

Neurological research

2022 Volume 44, Issue 11, Page(s) 964–968

Abstract: Objective: In Guillain-Barre syndrome (GBS), respiratory failure is the most serious manifestation and mechanical ventilation (MV) is required in approximately 20% of the patients. In this retrospective study, we aimed to evaluate clinical factors that ... ...

Abstract	Objective: In Guillain-Barre syndrome (GBS), respiratory failure is the most serious manifestation and mechanical ventilation (MV) is required in approximately 20% of the patients. In this retrospective study, we aimed to evaluate clinical factors that can be evaluated in the Emergency Department which may influence the short-term prognosis of GBS patients. Methods: Data were acquired regarding age, sex, antecedent infections, neurological signs and symptoms, cerebrospinal fluid examination, nerve conduction studies, treatment of GBS, need for MV, length of stay in the hospital, and discharge destination (home or rehabilitation). Charlson Comorbidity Index and modified Erasmus GBS outcome score (mEGOS) were collected on admission. Results: Seventy-eight GBS patients were recruited with a mean age of 53.9 (range 19-81). Sixty-nine (88.46%) were diagnosed with GBS and nine (11.54%) had classic Miller-Fisher syndrome. Mean values for the Charlson Comorbidity index were 1.20 ± 1.81, and the values of mEGOS were 2.4 ± 1.6. The rate of home discharge and rehabilitation was similar between elderly and younger patients. Patients who required MV had higher mEGOS (p-value=0.061). Regarding the electrophysiological subtypes, we did not observe a significant difference between AIDP and AMAN/AMSAN concerning the need for MV, the type of discharge, values of mEGOS and Charlson Comorbidity Index. Discussion: A significant correlation was found between mEGOS and the need for MV. Age did not influence the short-term prognosis of GBS patients. mEGOS may be a useful tool for predicting outcomes in patients with GBS and higher mEGOS scores on admission significantly correlated with poor outcomes.
MeSH term(s)	Humans ; Aged ; Middle Aged ; Retrospective Studies ; Guillain-Barre Syndrome ; Prognosis ; Respiration, Artificial ; Emergency Service, Hospital
Language	English
Publishing date	2022-05-17
Publishing country	England
Document type	Journal Article
ZDB-ID	424428-x
ISSN	1743-1328 ; 0161-6412
ISSN (online)	1743-1328
ISSN	0161-6412
DOI	10.1080/01616412.2022.2075661
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Zs.A 1491: Show issues

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Article ; Online: Allele-specific silencing as therapy for familial amyotrophic lateral sclerosis caused by the p.G376D

Romano, Roberta / De Luca, Maria / Del Fiore, Victoria Stefania / Pecoraro, Martina / Lattante, Serena / Sabatelli, Mario / La Bella, Vincenzo / Bucci, Cecilia

Brain communications

2022 Volume 4, Issue 6, Page(s) fcac315

Abstract: Amyotrophic lateral sclerosis is a neurodegenerative disease characterized by the degeneration of motor neurons. There is no treatment for this disease that affects the ability to move, eat, speak and finally breathe, causing death. In an Italian family, ...

Abstract	Amyotrophic lateral sclerosis is a neurodegenerative disease characterized by the degeneration of motor neurons. There is no treatment for this disease that affects the ability to move, eat, speak and finally breathe, causing death. In an Italian family, a heterozygous pathogenic missense variant has been previously discovered in Exon 6 of the gene
Language	English
Publishing date	2022-12-16
Publishing country	England
Document type	Journal Article
ISSN	2632-1297
ISSN (online)	2632-1297
DOI	10.1093/braincomms/fcac315
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Article ; Online: Neurofilament light chain as a disease severity biomarker in ATTRv: data from a single-centre experience.

Luigetti, Marco / Di Paolantonio, Andrea / Guglielmino, Valeria / Romano, Angela / Rossi, Salvatore / Sabino, Andrea / Servidei, Serenella / Sabatelli, Mario / Primiano, Guido

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

2022 Volume 43, Issue 4, Page(s) 2845–2848

Abstract: Background: Hereditary transthyretin amyloidosis (ATTRv) is a treatable multisystem disorder with prevalent peripheral nervous system impairment. Besides neurophysiological measures, there are few markers to monitor disease progression. Neurofilament ... ...

Abstract	Background: Hereditary transthyretin amyloidosis (ATTRv) is a treatable multisystem disorder with prevalent peripheral nervous system impairment. Besides neurophysiological measures, there are few markers to monitor disease progression. Neurofilament light chain (NfL) has recently been considered a sensitive biomarker for neuroaxonal damage in this setting. Objective: To evaluate NfL levels in a cohort of ATTRv patients and pre-symptomatic carriers and correlate the serum concentrations with other markers of disease severity. Methods: We analysed NfL serum from 17 ATTRv patients or carriers and 26 controls. An exhaustive clinical and instrumental evaluation was performed in all patients. Results: NfL levels were significantly higher in ATTRv cases when compared with controls. A significant correlation was found between NfL values and NIS scale, Sudoscan values from feet, interventricular septum thickness, and Quality of Life-Diabetic Neuropathy (Norfolk QoL-DN) questionnaire. Conclusion: We confirm that NfL is a reliable and promising biomarker to evaluate the ATTRv severity and monitor its progression.
MeSH term(s)	Amyloid Neuropathies, Familial/diagnosis ; Biomarkers ; Humans ; Intermediate Filaments ; Neurofilament Proteins ; Quality of Life ; Severity of Illness Index
Chemical Substances	Biomarkers ; Neurofilament Proteins
Language	English
Publishing date	2022-01-30
Publishing country	Italy
Document type	Journal Article
ZDB-ID	2016546-8
ISSN	1590-3478 ; 1590-1874
ISSN (online)	1590-3478
ISSN	1590-1874
DOI	10.1007/s10072-021-05850-7
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Article: Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care.

Luigetti, Marco / Romano, Angela / Di Paolantonio, Andrea / Bisogni, Giulia / Sabatelli, Mario

Therapeutics and clinical risk management

2020 Volume 16, Page(s) 109–123

Abstract: Hereditary transthyretin amyloidosis (hATTR) with polyneuropathy (formerly known as Familial Amyloid Polyneuropathy) is a rare disease due to mutations in the gene encoding transthyretin ( ...

Abstract	Hereditary transthyretin amyloidosis (hATTR) with polyneuropathy (formerly known as Familial Amyloid Polyneuropathy) is a rare disease due to mutations in the gene encoding transthyretin (
Language	English
Publishing date	2020-02-21
Publishing country	New Zealand
Document type	Journal Article ; Review
ZDB-ID	2186560-7
ISSN	1178-203X ; 1176-6336
ISSN (online)	1178-203X
ISSN	1176-6336
DOI	10.2147/TCRM.S219979
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