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Article ; Online: RNA Interference and Neuromuscular Diseases: A Focus on Hereditary Transthyretin Amyloidosis.

Ceccanti, Marco / Inghilleri, Maurizio

2023 Volume 24, Issue 1, Page(s) 6–7

Abstract: Neuromuscular diseases are severe disorders affecting the peripheral nervous system, usually driving to death in a limited time. Many new drugs, through RNA-interference technology, are revolutionizing the prognosis and quality of life for these patients. ...

Abstract	Neuromuscular diseases are severe disorders affecting the peripheral nervous system, usually driving to death in a limited time. Many new drugs, through RNA-interference technology, are revolutionizing the prognosis and quality of life for these patients. Nevertheless, given the increased life expectancy, some new issues and phenotypes are expected to be revealed. In the transthyretin-mediated hereditary amyloidosis (ATTR-v, "v" for "variant"), the RNA interference was demonstrated to effectively reduce the hepatic synthesis of transthyretin, with a significant increase in disease progression in terms of polyneuropathy and cardiomyopathy. The increased life expectancy could promote the involvement of organs where the extra-hepatic transthyretin is deposited, such as the brain and eye, which are probably not targeted by the available treatments. All these issues are discussed in this editorial.
MeSH term(s)	Humans ; RNA Interference ; Prealbumin/genetics ; Quality of Life ; Amyloid Neuropathies, Familial/genetics ; Amyloid Neuropathies, Familial/therapy
Chemical Substances	Prealbumin
Language	English
Publishing date	2023-09-15
Publishing country	United Arab Emirates
Document type	Editorial
ZDB-ID	2146187-9
ISSN	1875-5631 ; 1566-5232
ISSN (online)	1875-5631
ISSN	1566-5232
DOI	10.2174/1566523223666230913110011
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Article ; Online: MiR206 and 423-3p Are Differently Modulated in Fast and Slow-Progressing Amyotrophic Lateral Sclerosis Patients.

Musarò, Antonio / Dobrowolny, Gabriella / Cambieri, Chiara / Libonati, Laura / Moret, Federica / Casola, Irene / Laurenzi, Gaia / Garibaldi, Matteo / Inghilleri, Maurizio / Ceccanti, Marco

Neuromolecular medicine

2024 Volume 26, Issue 1, Page(s) 5

Abstract: Amyotrophic lateral sclerosis (ALS) is a rare neuromuscular disease with a wide disease progression. Despite several efforts to develop efficient biomarkers, many concerns about the available ones still need to be addressed. MicroRNA (miR) are non-coding ...

Abstract	Amyotrophic lateral sclerosis (ALS) is a rare neuromuscular disease with a wide disease progression. Despite several efforts to develop efficient biomarkers, many concerns about the available ones still need to be addressed. MicroRNA (miR) are non-coding RNAs that can modulate molecular circuits and are involved in ALS pathogenic mechanisms. 22 fast and 23 slow-progressing-defined ALS patients were recruited. ALSFRS-R, strength, respiratory function, nerve conduction studies, and creatine kinase were evaluated at the baseline and after 6 months of follow-up. The mean monthly reduction of the previous variables (progression index - PI) was calculated. MiR206, 133a-3p, 151a-5p, 199a-5p, and 423-3p were dosed. The univariate analysis showed an independent reduction of miR206 and an increase of miR423-3p in patients with a slow slope of ALSFRS-R and weakness, respectively. MiR206 and 423-3p are differently modulated in fast and slow-progressing ALS patients, suggesting a role for microRNAs in prognosis and therapeutic target.
MeSH term(s)	Humans ; Amyotrophic Lateral Sclerosis/genetics ; Disease Progression ; MicroRNAs/genetics ; Research Design ; Biomarkers
Chemical Substances	MicroRNAs ; Biomarkers ; MIRN206 microRNA, human
Language	English
Publishing date	2024-03-15
Publishing country	United States
Document type	Journal Article
ZDB-ID	2077809-0
ISSN	1559-1174 ; 1535-1084
ISSN (online)	1559-1174
ISSN	1535-1084
DOI	10.1007/s12017-024-08773-6
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Article ; Online: Emotion recognition in amyotrophic lateral sclerosis in a dynamic environment.

Ceccanti, Marco / Libonati, Laura / Moret, Federica / D'Andrea, Edoardo / Gori, Maria Cristina / Bersani, Francesco Saverio / Inghilleri, Maurizio / Cambieri, Chiara

Journal of the neurological sciences

2024 Volume 460, Page(s) 123019

Abstract: Objective: The aim of our study was to measure the ability of ALS patients to process dynamic facial expressions as compared to a control group of healthy subjects and to correlate this ability in ALS patients with neuropsychological, clinical and ... ...

Abstract	Objective: The aim of our study was to measure the ability of ALS patients to process dynamic facial expressions as compared to a control group of healthy subjects and to correlate this ability in ALS patients with neuropsychological, clinical and neurological measures of the disease. Methods: Sixty-three ALS patients and 47 healthy controls were recruited. All the ALS patients also underwent i) the Geneva Emotion Recognition Test (GERT) in which ten actors express 14 types of dynamic emotions in brief video clips with audio, ii) the Edimburgh Cognitive and Behavioral ALS Screen (ECAS) test; iii) the ALS Functional Rating Scale Revised (ALSFRS-R) and iv) the Medical Research Council (MRC) for the evaluation of muscle strength. All the healthy subjects enrolled in the study underwent the GERT. Results: The recognition of irritation and pleasure was significantly different between ALS patients and the control group. The amusement, despair, irritation, joy, sadness and surprise had been falsely recognized differently between the two groups. Specific ALS cognitive impairment was associated with bulbar-onset phenotype (OR = 14,3889; 95%CI = 3,96-52,16). No association was observed between false emotion recognition and cognitive impairment (F(1,60)=,56,971, p=,45,333). The number of categorical errors was significantly higher in the ALS patients than in the control group (27,66 ± 7,28 vs 17,72 ± 5,29; t = 8723; p = 0.001). Conclusions: ALS patients show deficits in the dynamic processing of a wide range of emotions. These deficits are not necessarily associated with a decline in higher cognitive functions: this could therefore lead to an underestimation of the phenomenon.
Language	English
Publishing date	2024-04-16
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	80160-4
ISSN	1878-5883 ; 0022-510X ; 0374-8642
ISSN (online)	1878-5883
ISSN	0022-510X ; 0374-8642
DOI	10.1016/j.jns.2024.123019
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Article ; Online: A case of acute motor and sensory axonal neuropathy mimicking brain death.

Libonati, Laura / Fiorini, Ilenia / Cambieri, Chiara / Ceccanti, Marco / Inghilleri, Maurizio

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

2021 Volume 42, Issue 6, Page(s) 2569–2573

MeSH term(s)	Brain Death ; Guillain-Barre Syndrome ; Humans ; Peripheral Nervous System Diseases
Language	English
Publishing date	2021-01-18
Publishing country	Italy
Document type	Case Reports ; Letter
ZDB-ID	2016546-8
ISSN	1590-3478 ; 1590-1874
ISSN (online)	1590-3478
ISSN	1590-1874
DOI	10.1007/s10072-021-05051-2
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Article ; Online: A novel homozygous mutation in TBK1 gene causing ALS-FTD.

Libonati, Laura / Ceccanti, Marco / Cambieri, Chiara / Colavito, Davide / Moret, Federica / Fiorini, Ilenia / Inghilleri, Maurizio

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

2022 Volume 43, Issue 3, Page(s) 2101–2104

MeSH term(s)	Humans ; Amyotrophic Lateral Sclerosis/genetics ; Frontotemporal Dementia/genetics ; Genetic Association Studies ; Homozygote ; Mutation/genetics ; Protein Serine-Threonine Kinases/genetics
Chemical Substances	Protein Serine-Threonine Kinases (EC 2.7.11.1) ; TBK1 protein, human (EC 2.7.11.1)
Language	English
Publishing date	2022-01-14
Publishing country	Italy
Document type	Letter
ZDB-ID	2016546-8
ISSN	1590-3478 ; 1590-1874
ISSN (online)	1590-3478
ISSN	1590-1874
DOI	10.1007/s10072-021-05820-z
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Article: Effects of Skin Stimulation on Sensory-Motor Networks Excitability: Possible Implications for Physical Training in Amyotrophic Lateral Sclerosis.

Ceccanti, Marco / Cambieri, Chiara / Libonati, Laura / Tartaglia, Giorgio / Moret, Federica / Garibaldi, Matteo / Inghilleri, Maurizio

Frontiers in neurology

2022 Volume 13, Page(s) 868792

Abstract: Background: Many different trials were assessed for rehabilitation of patients with amyotrophic lateral sclerosis (ALS), with non-unique results. Beside the effects on muscle trophism, some of the encouraging results of physical training could be ... ...

Abstract	Background: Many different trials were assessed for rehabilitation of patients with amyotrophic lateral sclerosis (ALS), with non-unique results. Beside the effects on muscle trophism, some of the encouraging results of physical training could be ascribed to the modulation of cortical excitability, which was found hyperexcited in ALS. Objective: The effects of tactile skin stimulation in the modulation of the sensory-motor integrative networks in healthy subjects were assayed through the paired associative stimulation (PAS) protocol. Methods: In total, 15 healthy subjects were enrolled. In the Results: The tactile skin stimulation on healthy subjects increases the PAS-induced sensory-motor network hyperexcitability in healthy subjects. Conclusion: Skin stimulation should be avoided in the physiotherapeutic approaches for patients with ALS, given the possible hyperexciting effects on the already upmodulated sensory-motor networks. They can be taken into account for diseases characterized by downregulation of cortical and transcortical networks.
Language	English
Publishing date	2022-05-25
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2564214-5
ISSN	1664-2295
ISSN	1664-2295
DOI	10.3389/fneur.2022.868792
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Article ; Online: Classical and Unexpected Effects of Ultra-Micronized PEA in Neuromuscular Function.

Cifelli, Pierangelo / Ruffolo, Gabriele / Ceccanti, Marco / Cambieri, Chiara / Libonati, Laura / Palma, Eleonora / Inghilleri, Maurizio

Biomolecules

2022 Volume 12, Issue 6

Abstract: Recently, the endocannabinoid system has attracted growing attention from the scientific community for its involvement in homeostatic and pathological processes as they pertains to human physiology. Among the constituents of the endocannabinoid system, ... ...

Abstract	Recently, the endocannabinoid system has attracted growing attention from the scientific community for its involvement in homeostatic and pathological processes as they pertains to human physiology. Among the constituents of the endocannabinoid system, the molecule palmitoyl ethanolamide has particularly been studied for its ability to reduce several inflammatory processes involving the central nervous system. Here, we reviewed published literature and summarized the main targets of the palmitoyl ethanolamide, along with its unique possible mechanisms for restoring correct functioning of the central nervous system. Moreover, we have highlighted a less-known characteristic of palmitoyl ethanolamide, namely its ability to modulate the function of the neuromuscular junction by binding to acetylcholine receptors in different experimental conditions. Indeed, there are several studies that have highlighted how ultra-micronized palmitoyl ethanolamide is an interesting nutraceutical support for the treatment of pathological neuromuscular conditions, specifically when the normal activity of the acetylcholine receptor is altered. Although further multicentric clinical trials are needed to confirm the efficacy of ultra-micronized palmitoyl ethanolamide in improving symptoms of neuromuscular diseases, all the literature reviewed here strongly supports the ability of this endocannabinoid-like molecule to modulate the acetylcholine receptors thus resulting as a valid support for the treatment of human neuromuscular diseases.
MeSH term(s)	Endocannabinoids/metabolism ; Humans ; Neuromuscular Diseases/drug therapy ; Receptors, Cholinergic
Chemical Substances	Endocannabinoids ; Receptors, Cholinergic
Language	English
Publishing date	2022-05-29
Publishing country	Switzerland
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	2701262-1
ISSN	2218-273X ; 2218-273X
ISSN (online)	2218-273X
ISSN	2218-273X
DOI	10.3390/biom12060758
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Article: Effects of 3,4-diaminopyridine on myasthenia gravis: Preliminary results of an open-label study.

Ceccanti, Marco / Libonati, Laura / Ruffolo, Gabriele / Cifelli, Pierangelo / Moret, Federica / Frasca, Vittorio / Palma, Eleonora / Inghilleri, Maurizio / Cambieri, Chiara

Frontiers in pharmacology

2022 Volume 13, Page(s) 982434

Abstract: Background: ...

Abstract	Background:
Language	English
Publishing date	2022-08-16
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2587355-6
ISSN	1663-9812
ISSN	1663-9812
DOI	10.3389/fphar.2022.982434
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Article ; Online: Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.

Libonati, Laura / Cambieri, Chiara / Colavito, Davide / Moret, Federica / D'Andrea, Edoardo / Del Giudice, Elda / Leon, Alberta / Inghilleri, Maurizio / Ceccanti, Marco

Journal of neurology

2023 Volume 271, Issue 4, Page(s) 1921–1936

Abstract: Introduction: Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease with an elusive etiology. While environmental factors have been considered, familial ALS cases have raised the possibility of genetic involvement. This genetic connection ... ...

Abstract	Introduction: Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease with an elusive etiology. While environmental factors have been considered, familial ALS cases have raised the possibility of genetic involvement. This genetic connection is increasingly evident, even in patients with sporadic ALS. We allowed access to the genetic test to all patients attending our clinic to identify the prevalence and the role of genetic variants in the development of the disease and to identify patients with potentially treatable forms of the disease. Materials and methods: 194 patients with probable or definite ALS, were enrolled. A comprehensive genetic testing was performed, including sequencing all exons of the SOD1 gene and testing for hexanucleotide intronic repeat expansions (G4C2) in the C9orf72 gene using fluorescent repeat-primed PCR (RP-PCR). Whole Exome NGS Sequencing (WES) was performed, followed by an in silico multigene panel targeting neuromuscular diseases, spastic paraplegia, and motor distal neuropathies. We conducted statistical analyses to compare different patient groups. Results: Clinically significant pathogenetic variants were detected in 14.43% of cases. The highest prevalence of pathogenetic variants was observed in fALS patients, but a substantial proportion of sALS patients also displayed at least one variant, either pathogenetic or of uncertain significance (VUS). The most observed pathogenetic variant was the expansion of the C9orf72 gene, which was associated with a shorter survival. SOD1 variants were found in 1.6% of fALS and 2.5% of sALS patients. Discussion: The study reveals a significant number of ALS patients carrying pathogenic or likely pathogenic variants, with a higher prevalence in familial ALS cases. The expansion of the C9orf72 gene emerges as the most common genetic cause of ALS, affecting familial and sporadic cases. Additionally, SOD1 variants are detected at an unexpectedly higher rate, even in patients without a familial history of ALS, underscoring the crucial role of genetic testing in treatment decisions and potential participation in clinical trials. We also investigated variants in genes such as TARDBP, FUS, NEK1, TBK1, and DNAJC7, shedding light on their potential involvement in ALS. These findings underscore the complexity of interpreting variants of uncertain significance (VUS) and their ethical implications in patient communication and genetic counseling for patients' relatives. Conclusion: This study emphasizes the diverse genetic basis of ALS and advocates for integrating comprehensive genetic testing into diagnostic protocols. The evolving landscape of genetic therapies requires identifying all eligible patients transcending traditional familial boundaries. The presence of VUS highlights the multifaceted nature of ALS genetics, prompting further exploration of complex interactions among genetic variants, environmental factors, and disease development.
MeSH term(s)	Humans ; Mutation ; Amyotrophic Lateral Sclerosis/epidemiology ; Superoxide Dismutase-1/genetics ; C9orf72 Protein/genetics ; Neurodegenerative Diseases ; Italy ; Heat-Shock Proteins/genetics ; Molecular Chaperones/genetics
Chemical Substances	Superoxide Dismutase-1 (EC 1.15.1.1) ; C9orf72 Protein ; DNAJC7 protein, human ; Heat-Shock Proteins ; Molecular Chaperones
Language	English
Publishing date	2023-12-19
Publishing country	Germany
Document type	Journal Article
ZDB-ID	187050-6
ISSN	1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
ISSN (online)	1432-1459
ISSN	0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
DOI	10.1007/s00415-023-12142-x
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Article ; Online: Unilateral lower cranial nerve palsies as the sole manifestation of internal carotid artery dissection: Case report.

Caranci, Giovanni / Giacomelli, Elena / Inghilleri, Maurizio

Muscle & nerve

2018 Volume 57, Issue 5, Page(s) E134

Language	English
Publishing date	2018-05
Publishing country	United States
Document type	Letter
ZDB-ID	438353-9
ISSN	1097-4598 ; 0148-639X
ISSN (online)	1097-4598
ISSN	0148-639X
DOI	10.1002/mus.20945
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