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1. Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN)

Author

Galosi, Eleonora, Costanzo, Rocco, Forcina, Francesca, Morino, Stefania, Antonini, Giovanni, Salvetti, Marco, Lauletta, Antonio, Luigetti, Marco, Romano, Angela, Primiano, Guido, Guglielmino, Valeria, Fionda, Laura, Garibaldi, Matteo, Esposito, Nicoletta, Falco, Pietro, di Pietro, Giuseppe, Truini, Andrea, and Leonardi, Luca

Published
2024
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2. Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients

Author

Strafella, Claudia, Megalizzi, Domenica, Trastulli, Giulia, Proietti Piorgo, Emma, Colantoni, Luca, Tasca, Giorgio, Monforte, Mauro, Zampatti, Stefania, Primiano, Guido, Sancricca, Cristina, Bortolani, Sara, Torchia, Eleonora, Ravera, Beatrice, Torri, Francesca, Gadaleta, Giulio, Risi, Barbara, Caria, Filomena, Gerardi, Francesca, Carraro, Elena, Gioiosa, Valeria, Garibaldi, Matteo, Tufano, Laura, Frezza, Erica, Massa, Roberto, Caltagirone, Carlo, Pennisi, Elena Maria, Petrucci, Antonio, Pane, Marika, Frongia, Annalia, Gragnani, Francesca, Scutifero, Marianna, Mandich, Paola, Grandis, Marina, Maioli, Maria Antonietta, Casali, Carlo, Manfroi, Elisabetta, Politano, Luisa, Passamano, Luigia, Petillo, Roberta, Rodolico, Carmelo, Pugliese, Alessia, Previtali, Stefano Carlo, Sansone, Valeria, Vercelli, Liliana, Mongini, Tiziana Enrica, Ricci, Giulia, Siciliano, Gabriele, Filosto, Massimiliano, Ricci, Enzo, Cascella, Raffaella, and Giardina, Emiliano

Published
2024
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4. Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience

Author

Fortunato, Fernanda, Bianchi, Francesca, Ricci, Giulia, Torri, Francesca, Gualandi, Francesca, Neri, Marcella, Farnè, Marianna, Giannini, Fabio, Malandrini, Alessandro, Volpi, Nila, Lopergolo, Diego, Silani, Vincenzo, Ticozzi, Nicola, Verde, Federico, Pareyson, Davide, Fenu, Silvia, Bonanno, Silvia, Nigro, Vincenzo, Peduto, Cristina, D’Ambrosio, Paola, Zeuli, Roberta, Zanobio, Mariateresa, Picillo, Esther, Servidei, Serenella, Primiano, Guido, Sancricca, Cristina, Sciacco, Monica, Brusa, Roberta, Filosto, Massimiliano, Cotti Piccinelli, Stefano, Pegoraro, Elena, Mongini, Tiziana, Solero, Luca, Gadaleta, Giulio, Brusa, Chiara, Minetti, Carlo, Bruno, Claudio, Panicucci, Chiara, Sansone, Valeria A., Lunetta, Christian, Zanolini, Alice, Toscano, Antonio, Pugliese, Alessia, Nicocia, Giulia, Bertini, Enrico, Catteruccia, Michela, Diodato, Daria, Atalaia, Antonio, Evangelista, Teresinha, Siciliano, Gabriele, and Ferlini, Alessandra

Published
2023
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8. Hospital admissions from the emergency department of adult patients affected by myopathies

Author

Monforte, Mauro, Torchia, Eleonora, Bortolani, Sara, Ravera, Beatrice, Ricci, Enzo, Silvestri, Gabriella, Servidei, Serenella, Primiano, Guido Alessandro, Mirabella, Massimiliano, Sabatelli, Mario, Mercuri, Eugenio Maria, Franceschi, Francesco, Calabresi, Paolo, Covino, Marcello, Tasca, Giorgio, Ricci, Enzo (ORCID:0000-0003-3092-3597), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Servidei, Serenella (ORCID:0000-0001-8478-2799), Primiano, Guido, Mirabella, Massimiliano (ORCID:0000-0002-7783-114X), Sabatelli, Mario (ORCID:0000-0001-6635-4985), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Franceschi, Francesco (ORCID:0000-0001-6266-445X), Calabresi, Paolo (ORCID:0000-0003-0326-5509), Covino, Marcello (ORCID:0000-0002-6709-2531), Monforte, Mauro, Torchia, Eleonora, Bortolani, Sara, Ravera, Beatrice, Ricci, Enzo, Silvestri, Gabriella, Servidei, Serenella, Primiano, Guido Alessandro, Mirabella, Massimiliano, Sabatelli, Mario, Mercuri, Eugenio Maria, Franceschi, Francesco, Calabresi, Paolo, Covino, Marcello, Tasca, Giorgio, Ricci, Enzo (ORCID:0000-0003-3092-3597), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Servidei, Serenella (ORCID:0000-0001-8478-2799), Primiano, Guido, Mirabella, Massimiliano (ORCID:0000-0002-7783-114X), Sabatelli, Mario (ORCID:0000-0001-6635-4985), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Franceschi, Francesco (ORCID:0000-0001-6266-445X), Calabresi, Paolo (ORCID:0000-0003-0326-5509), and Covino, Marcello (ORCID:0000-0002-6709-2531)

Abstract

Background and purposeMyopathies 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.MethodsAnonymized 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.ResultsA 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.ConclusionsRespiratory 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.

Published
2024

9. Serum neurofilament light chain: a promising early diagnostic biomarker for hereditary transthyretin amyloidosis?

Author

Romano, Angela, Primiano, Guido Alessandro, Antonini, Giovanni, Ceccanti, Marco, Fenu, Silvia, Forcina, Francesca, Gentile, Luca, Inghilleri, Maurizio, Leonardi, Luca, Manganelli, Fiore, Obici, Laura, Sabino, Andrea, Sciarrone, Maria Ausilia, Tozza, Stefano, Vitali, Francesca, Luigetti, Marco, Primiano, Guido, Luigetti, Marco (ORCID:0000-0001-7539-505X), Romano, Angela, Primiano, Guido Alessandro, Antonini, Giovanni, Ceccanti, Marco, Fenu, Silvia, Forcina, Francesca, Gentile, Luca, Inghilleri, Maurizio, Leonardi, Luca, Manganelli, Fiore, Obici, Laura, Sabino, Andrea, Sciarrone, Maria Ausilia, Tozza, Stefano, Vitali, Francesca, Luigetti, Marco, Primiano, Guido, and Luigetti, Marco (ORCID:0000-0001-7539-505X)

Abstract

Background and purpose: Hereditary transthyretin amyloidosis (ATTRv) is a life-threatening disease caused by mutations in the gene encoding transthyretin (TTR). The recent therapeutic advances have underlined the importance of easily accessible, objective biomarkers of both disease onset and progression. Preliminary evidence suggests a potential role in this respect for neurofilament light chain (NfL). In this study, the aim was to determine serum NfL (sNfL) levels in a late-onset ATTRv population and evaluate whether it might represent a reliable biomarker of disease onset (i.e., ' conversion ' from the asymptomatic status to symptomatic disease in TTR mutation carriers).Methods: In all, 111 individuals harbouring a pathogenic TTR variant (61 symptomatic ATTRv patients and 50 presymptomatic carriers) were consecutively enrolled. Fifty healthy volunteers were included as the control group. EllaT apparatus was used to assess sNfL levels.Results: Serum NfL levels were increased in ATTRv patients compared to both presymptomatic carriers and healthy controls, whilst not differing between carriers and healthy controls. An sNfL cut-off of 37.10 pg/mL could discriminate between asymptomatic and symptomatic individuals with high diagnostic accuracy (area under the curve 0.958; p < 0.001), sensitivity (81.4%) and specificity (100%).Conclusions: Serum NfL seems to be a promising biomarker of peripheral nerve involvement in ATTRv amyloidosis and might become a reliable, objective measure to detect the transition from the presymptomatic stage to the onset of symptomatic disease. Further longitudinal studies are needed to confirm such a role and determine whether it could equally represent a biomarker of disease progression and response to therapy.

Published
2024

10. Serum Neurofilament and Free Light Chain Levels in Patients Undergoing Treatment for Chronic Inflammatory Demyelinating Polyneuropathy

Author

Luigetti, Marco, Primiano, Guido Alessandro, Basile, Valerio, Vitali, Francesca, Pignalosa, Stefano, Romano, Angela, Sabino, Andrea, Marino, Mariapaola, Di Santo, Riccardo, Ciasca, Gabriele, Basile, Umberto, Luigetti, Marco (ORCID:0000-0001-7539-505X), Primiano, Guido, Marino, Mariapaola (ORCID:0000-0001-9155-6378), Ciasca, Gabriele (ORCID:0000-0002-3694-8229), Luigetti, Marco, Primiano, Guido Alessandro, Basile, Valerio, Vitali, Francesca, Pignalosa, Stefano, Romano, Angela, Sabino, Andrea, Marino, Mariapaola, Di Santo, Riccardo, Ciasca, Gabriele, Basile, Umberto, Luigetti, Marco (ORCID:0000-0001-7539-505X), Primiano, Guido, Marino, Mariapaola (ORCID:0000-0001-9155-6378), and Ciasca, Gabriele (ORCID:0000-0002-3694-8229)

Abstract

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune-mediated disorder affecting the peripheral nervous system. Despite the established diagnostic criteria, monitoring disease activity and treatment remains challenging. To address this limitation, we investigated serum neurofilament light chain (sNfL) and serum free light chains (sFLCs) as potential biomarkers. A total of 32 CIDP patients undergoing immunoglobulin therapy and 32 healthy controls enrolled in the present study, and agreed to have their blood plasma sNfL and sFLCs analyzed, while CIDP severity was assessed through the modified Rankin Scale (mRS) and the Overall Neuropathy Limitations Scale (ONLS). In line with the immunoglobulin treatment aimed at limiting neuronal damage administered to the majority of patients, sNfL levels did not exhibit significant differences between the two groups. However, CIDP patients showed significantly elevated sFLC and sFLC ratios, while the marker levels did not correlate with the clinical scores. The study confirms the potential of sFLCs as a sensitive biomarker of inflammatory processes in CIDP. Additionally, the present study results regarding neurofilaments strengthen the role of sNfL in monitoring CIDP treatments, confirming the effectiveness of immunoglobulin therapy. Overall, our results demonstrate how combining these markers can lead to better patient characterization for improved treatment.

Published
2024

12. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

Author

Della Vecchia, Stefania, Tessa, Alessandra, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta, Casali, Carlo, Ciof, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella, Spagnoli, Carlotta, Ticci, Chiara, Rubegni, Anna, and Santorelli, Filippo Maria

Published
2023
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13. Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders.

Author

Megalizzi, Domenica, Trastulli, Giulia, Colantoni, Luca, Proietti Piorgo, Emma, Primiano, Guido, Sancricca, Cristina, Caltagirone, Carlo, Cascella, Raffaella, Strafella, Claudia, and Giardina, Emiliano

Subjects
SYMPTOMS, NEUROMUSCULAR diseases, MUSCULAR dystrophy, TECHNOLOGICAL innovations, RARE diseases
Abstract

Rare diseases are heterogeneous diseases characterized by various symptoms and signs. Due to the low prevalence of such conditions (less than 1 in 2000 people), medical expertise is limited, knowledge is poor and patients' care provided by medical centers is inadequate. An accurate diagnosis is frequently challenging and ongoing research is also insufficient, thus complicating the understanding of the natural progression of the rarest disorders. This review aims at presenting the multimodal approach supported by the integration of multiple analyses and disciplines as a valuable solution to clarify complex genotype–phenotype correlations and promote an in-depth examination of rare disorders. Taking into account the literature from large-scale population studies and ongoing technological advancement, this review described some examples to show how a multi-skilled team can improve the complex diagnosis of rare diseases. In this regard, Facio-Scapulo-Humeral muscular Dystrophy (FSHD) represents a valuable example where a multimodal approach is essential for a more accurate and precise diagnosis, as well as for enhancing the management of patients and their families. Given their heterogeneity and complexity, rare diseases call for a distinctive multidisciplinary approach to enable diagnosis and clinical follow-up. [ABSTRACT FROM AUTHOR]

Published
2024
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14. Resolving Phenotypic Variability in Mitochondrial Diseases: Preliminary Findings of a Proteomic Approach.

Author

Cicchinelli, Michela, Primiano, Guido, Servidei, Serenella, Ardito, Michelangelo, Percio, Anna, Urbani, Andrea, and Iavarone, Federica

Subjects
*GENETIC variation, *DNA helicases, *PHENOTYPIC plasticity, *RNA helicase, *MITOCHONDRIAL RNA, *MITOCHONDRIAL DNA
Abstract

The introduction of new sequencing approaches into clinical practice has radically changed the diagnostic approach to mitochondrial diseases, significantly improving the molecular definition rate in this group of neurogenetic disorders. At the same time, there have been no equal successes in the area of in-depth understanding of disease mechanisms and few innovative therapeutic approaches have been proposed recently. In this regard, the identification of the molecular basis of phenotypic variability in primary mitochondrial disorders represents a key aspect for deciphering disease mechanisms with important therapeutic implications. In this study, we present data from proteomic investigations in two subjects affected by mitochondrial disease characterized by a different clinical severity and associated with the same variant in the TWNK gene, encoding the mitochondrial DNA and RNA helicase with a specific role in the mtDNA replisome. Heterozygous pathogenic variants in this gene are associated with progressive external ophthalmoplegia and ptosis, usually with adult onset. The overall results suggest an imbalance in glucose metabolism and ROS production/regulation, with possible consequences on the phenotypic manifestations of the enrolled subjects. Although the data will need to be validated in a large cohort, proteomic investigations have proven to be a valid approach for a deep understanding of these neurometabolic disorders. [ABSTRACT FROM AUTHOR]

Published
2024
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15. Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

Author

Vecchia, Stefania Della, Tessa, Alessandra, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta, Casali, Carlo, Cioffi, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella, Spagnoli, Carlotta, Ticci, Chiara, Rubegni, Anna, and Santorelli, Filippo Maria

Published
2022
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16. Deoxyguanosine kinase deficiency: natural history and liver transplant outcome

Author

Manzoni, Eleonora, primary, Carli, Sara, additional, Gaignard, Pauline, additional, Schlieben, Lea Dewi, additional, Hirano, Michio, additional, Ronchi, Dario, additional, Gonzales, Emmanuel, additional, Shimura, Masaru, additional, Murayama, Kei, additional, Okazaki, Yasushi, additional, Barić, Ivo, additional, Petkovic Ramadza, Danijela, additional, Karall, Daniela, additional, Mayr, Johannes, additional, Martinelli, Diego, additional, La Morgia, Chiara, additional, Primiano, Guido, additional, Santer, René, additional, Servidei, Serenella, additional, Bris, Céline, additional, Cano, Aline, additional, Furlan, Francesca, additional, Gasperini, Serena, additional, Laborde, Nolwenn, additional, Lamperti, Costanza, additional, Lenz, Dominic, additional, Mancuso, Michelangelo, additional, Montano, Vincenzo, additional, Menni, Francesca, additional, Musumeci, Olimpia, additional, Nesbitt, Victoria, additional, Procopio, Elena, additional, Rouzier, Cécile, additional, Staufner, Christian, additional, Taanman, Jan-Willem, additional, Tal, Galit, additional, Ticci, Chiara, additional, Cordelli, Duccio Maria, additional, Carelli, Valerio, additional, Procaccio, Vincent, additional, Prokisch, Holger, additional, and Garone, Caterina, additional

Published
2024
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18. COVID-19 vaccines and attributable risk of neurological disorders: a multicentre, case-control study (COVIVAX)

Author

Pupillo, Elisabetta, primary, Bianchi, Elisa, additional, Beghi, Ettore, additional, Pedrazzini, Francesco, additional, Giglio, Angela, additional, Schilke, Edoardo, additional, Percetti, Marco, additional, Colleoni, Carlo Morotti, additional, Mainini, Gabriele, additional, Calabresi, Paolo, additional, Primiano, Guido, additional, Frisullo, Giovanni, additional, Padovani, Alessandro, additional, Cristillo, Viviana, additional, Pilotto, Andrea, additional, Arici, Davide, additional, Gipponi, Stefano, additional, Tedeschi, Gioacchini, additional, D'Ambrosio, Alessandro, additional, Melisi, Rosario, additional, Gallo, Antonio, additional, Bisecco, Alvino, additional, Salmaggi, Andrea, additional, Basilico, Paola, additional, Scaccabarozzi, Chiara, additional, Kiferle, Lorenzo, additional, Valenti, Raffaella, additional, Avino, Gianluca, additional, Borghi, Annamaria, additional, Contardi, Sara, additional, Zini, Andrea, additional, Ferrarese, Carlo, additional, and Beretta, Simone, additional

Published
2024
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24. Serum Neurofilament and Free Light Chain Levels in Patients Undergoing Treatment for Chronic Inflammatory Demyelinating Polyneuropathy

Author

Luigetti, Marco, primary, Primiano, Guido, additional, Basile, Valerio, additional, Vitali, Francesca, additional, Pignalosa, Stefano, additional, Romano, Angela, additional, Sabino, Andrea, additional, Marino, Mariapaola, additional, Di Santo, Riccardo, additional, Ciasca, Gabriele, additional, and Basile, Umberto, additional

Published
2024
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25. Hospital admissions from the emergency department of adult patients affected by myopathies

Author

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

Published
2024
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26. Mitochondrial epilepsy: a cross-sectional nationwide Italian survey

Author

Ticci, Chiara, Sicca, Federico, Ardissone, Anna, Bertini, Enrico, Carelli, Valerio, Diodato, Daria, Di Vito, Lidia, Filosto, Massimiliano, La Morgia, Chiara, Lamperti, Costanza, Martinelli, Diego, Moroni, Isabella, Musumeci, Olimpia, Orsucci, Daniele, Pancheri, Elia, Peverelli, Lorenzo, Primiano, Guido, Rubegni, Anna, Servidei, Serenella, Siciliano, Gabriele, Simoncini, Costanza, Tonin, Paola, Toscano, Antonio, Mancuso, Michelangelo, and Santorelli, Filippo M.

Published
2020
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27. Hearing Impairment and Neuroimaging Results in Mitochondrial Diseases

Author

Cadoni, Gabriella, Primiano, Guido Alessandro, Picciotti, Pasqualina Maria, Calandrelli, Rosalinda, Galli, Jacopo, Servidei, Serenella, Conti, Guido, Cadoni, Gabriella (ORCID:0000-0001-8244-784X), Primiano, Guido, Picciotti, Pasqualina M (ORCID:0000-0002-1502-6508), Galli, Jacopo (ORCID:0000-0001-6353-6249), Servidei, Serenella (ORCID:0000-0001-8478-2799), Conti, Guido (ORCID:0000-0003-2565-4206), Cadoni, Gabriella, Primiano, Guido Alessandro, Picciotti, Pasqualina Maria, Calandrelli, Rosalinda, Galli, Jacopo, Servidei, Serenella, Conti, Guido, Cadoni, Gabriella (ORCID:0000-0001-8244-784X), Primiano, Guido, Picciotti, Pasqualina M (ORCID:0000-0002-1502-6508), Galli, Jacopo (ORCID:0000-0001-6353-6249), Servidei, Serenella (ORCID:0000-0001-8478-2799), and Conti, Guido (ORCID:0000-0003-2565-4206)

Abstract

Mitochondrial diseases (MDs) are heterogeneous genetic disorders characterized by mitochondrial DNA (mtDNA) defects, involving tissues highly dependent on oxidative metabolism: the inner ear, brain, eye, skeletal muscle, and heart. We describe adult patients with genetically defined MDs, characterizing hearing function and neuroimaging results. We enrolled 34 patients (mean age: 50.02 +/- 15 years, range: 18-75 years; 20 females and 14 males) classified in four groups: MELAS, MIDD, PEO, and Encephalopathy/Polyneuropathy. Audiological evaluations included psychoacoustical tests (pure-tone and speech audiometry), electrophysiological tests (Auditory Brainstem Responses, ABRs), and Impedenzometry. Neuroimaging evaluations considered global MRI abnormalities or structural brain changes. In total, 19/34 patients carried the m.3243A > G mutation (6 affected by MELAS, 12 affected by MIDD, and 1 affected by PEO); 11 had an mtDNA deletion (all affected by PEO); 3 had nuclear genes associated with MDs (POLG1 and OPA1); and 1 patient had an mtDNA deletion without an identified nuclear gene defect (affected by PEO). Sensory neural, bilateral, and symmetrical hearing loss was present in 25 patients (73.5%) to different degrees: 9 mild, 9 moderate, 5 severe, and 2 profound. The severe/profound and mild hearing losses were associated with pantonal and high-frequency audiograms, respectively. Instead, moderate hearing losses were associated with both high-frequency (five cases) and pantonal (five cases) audiogram shapes. In addition, 21/25 patients showed a cochlear site of lesion (84%), and 4/25 (16%) showed a retrocochlear site. We found global MRI abnormalities or structural brain changes in 26/30 subjects (86.6%): 21 had white matter abnormalities, 15 had cortical atrophy, 10 had subcortical atrophy, 8 had basal nuclei involvement or cerebellar atrophy, 4 had stroke-like lesions or laminar necrosis, and 1 had cysts or vacuolated lesions. We concluded that genetic alterations

Published
2023

28. Correction to: Preventive migraine treatment in mitochondrial diseases: a case report of erenumab efficacy and literature review

Author

Primiano, Guido Alessandro, Rollo, Eleonora, Romozzi, Marina, Calabresi, Paolo, Servidei, Serenella, Vollono, Catello, Primiano, Guido, Calabresi, Paolo (ORCID:0000-0003-0326-5509), Servidei, Serenella (ORCID:0000-0001-8478-2799), Primiano, Guido Alessandro, Rollo, Eleonora, Romozzi, Marina, Calabresi, Paolo, Servidei, Serenella, Vollono, Catello, Primiano, Guido, Calabresi, Paolo (ORCID:0000-0003-0326-5509), and Servidei, Serenella (ORCID:0000-0001-8478-2799)

Abstract

N/A

Published
2023

29. Inflammatory profile in mitochondrial diseases: A cohort study

Author

Primiano, Guido Alessandro, Plantone, Domenico, Piro, Geny, Carbone, Carmine, Sabino, Andrea, Sancricca, Cristina, Di Nottia, Michela, Carrozzo, Rosalba, Servidei, Serenella, Primiano, Guido, Servidei, Serenella (ORCID:0000-0001-8478-2799), Primiano, Guido Alessandro, Plantone, Domenico, Piro, Geny, Carbone, Carmine, Sabino, Andrea, Sancricca, Cristina, Di Nottia, Michela, Carrozzo, Rosalba, Servidei, Serenella, Primiano, Guido, and Servidei, Serenella (ORCID:0000-0001-8478-2799)

Abstract

This is an observational case–control study performed at the Fondazione Policlinico Universitario Agostino Gemelli IRCCS, including subjects with a molecular diagnosis of primary mitochondrial myopathy. Full demographic and clinical data of the MD patients and healthy controls (HCs) are reported in Data S1. Thirty adult patients with a genetically defined MD with predominant involvement of skeletal muscle and 26 age-and sex-matched HCs were included in the studySumming up, our results suggest that inflammation plays a role in primary MDs and may represent an interesting field for future therapeutic perspectives.

Published
2023

30. Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases

Author

Ardissone, Anna, Bruno, Claudio, Diodato, Daria, Donati, Alice, Ghezzi, Daniele, Lamantea, Eleonora, Lamperti, Costanza, Mancuso, Michelangelo, Martinelli, Diego, Primiano, Guido, Procopio, Elena, Rubegni, Anna, Santorelli, Filippo, Schiaffino, Maria Cristina, Servidei, Serenella, Tubili, Flavia, Bertini, Enrico, and Moroni, Isabella

Published
2021
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33. Macrophages reside in the muscle spindle to control sensorimotor function at millisecond timescale

Author

Giovanni, Simone Di, primary, Yan, Yuyang, additional, Vargas, Irene, additional, Xu, Luyang, additional, Antolin, Nuria, additional, Kong, Guiping, additional, Palmisano, Ilaria, additional, Yi, Yang, additional, Chadwick, Jessica, additional, Mueller, Franziska, additional, Bull, Anthony, additional, Celso, Cristina Lo, additional, Primiano, Guido, additional, Servidei, Serenella, additional, and Bellardita, Carmelo, additional

Published
2023
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39. Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

Author

Nicita, Francesco, Stregapede, Fabrizia, Tessa, Alessandra, Bassi, Maria Teresa, Jezela-Stanek, Aleksandra, Primiano, Guido, Pizzuti, Antonio, Barghigiani, Melissa, Nardella, Marta, Zanni, Ginevra, Servidei, Serenella, Astrea, Guja, Panzeri, Elena, Maghini, Cristina, Losito, Luciana, Ploski, Rafal, Gasperowicz, Piotr, Santorelli, Filippo Maria, Bertini, Enrico, and Travaglini, Lorena

Published
2019
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40. Muscle pain in mitochondrial diseases: a picture from the Italian network

Author

Filosto, Massimiliano, Cotti Piccinelli, Stefano, Lamperti, Costanza, Mongini, Tiziana, Servidei, Serenella, Musumeci, Olimpia, Tonin, Paola, Santorelli, Filippo Maria, Simoncini, Costanza, Primiano, Guido, Vercelli, Liliana, Rubegni, Anna, Galvagni, Anna, Moggio, Maurizio, Comi, Giacomo Pietro, Carelli, Valerio, Toscano, Antonio, Padovani, Alessandro, Siciliano, Gabriele, and Mancuso, Michelangelo

Published
2019
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41. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

Author

Della Vecchia, Stefania, Tessa, Alessandra, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta, Casali, Carlo, Cioffi, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella, Spagnoli, Carlotta, Ticci, Chiara, Rubegni, Anna, and Santorelli, Filippo Maria

Published
2022
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44. Serum neurofilament light chain: a promising early diagnostic biomarker for hereditary transthyretin amyloidosis?

Author

Romano, Angela, primary, Primiano, Guido, additional, Antonini, Giovanni, additional, Ceccanti, Marco, additional, Fenu, Silvia, additional, Forcina, Francesca, additional, Gentile, Luca, additional, Inghilleri, Maurizio, additional, Leonardi, Luca, additional, Manganelli, Fiore, additional, Obici, Laura, additional, Sabino, Andrea, additional, Sciarrone, Maria Ausilia, additional, Tozza, Stefano, additional, Vitali, Francesca, additional, and Luigetti, Marco, additional

Published
2023
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46. Quantitative sensory testing and skin biopsy findings in late‐onset ATTRv presymptomatic carriers: Relationships with predicted time of disease onset (PADO)

Author

Leonardi, Luca, primary, Costanzo, Rocco, additional, Forcina, Francesca, additional, Morino, Stefania, additional, Antonini, Giovanni, additional, Salvetti, Marco, additional, Luigetti, Marco, additional, Romano, Angela, additional, Primiano, Guido, additional, Guglielmino, Valeria, additional, Fionda, Laura, additional, Garibaldi, Matteo, additional, Lauletta, Antonio, additional, Rossini, Elena, additional, Tufano, Laura, additional, Ceccanti, Marco, additional, Esposito, Nicoletta, additional, Falco, Pietro, additional, di Pietro, Giuseppe, additional, Truini, Andrea, additional, and Galosi, Eleonora, additional

Published
2023
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50. Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.

Author

Strafella, Claudia, Colantoni, Luca, Megalizzi, Domenica, Trastulli, Giulia, Piorgo, Emma Proietti, Primiano, Guido, Sancricca, Cristina, Ricci, Giulia, Siciliano, Gabriele, Caltagirone, Carlo, Filosto, Massimiliano, Tasca, Giorgio, Ricci, Enzo, Cascella, Raffaella, and Giardina, Emiliano

Abstract

Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant disease, although 10%–30% of cases are sporadic. However, this percentage may include truly de novo patients (carrying a reduced D4Z4 allele that is not present in either of the parents) and patients with apparently sporadic disease resulting from mosaicism, non‐penetrance, or complex genetic situations in either patients or parents. In this study, we characterized the D4Z4 Reduced Alleles (DRA) and evaluated the frequency of truly de novo cases in FSHD1 in a cohort of DNA samples received consecutively for FSHD‐diagnostic from 100 Italian families. The D4Z4 testing revealed that 60 families reported a DRA compatible with FSHD1 (1–10 RU). The DRA co‐segregated with the disease in most cases. Five families with truly de novo cases were identified, suggesting that this condition may be slightly lower (8%) than previously reported. In addition, D4Z4 characterization in the investigated families showed 4% of mosaic cases and 2% with translocations. This study further highlighted the importance of performing family studies for clarifying apparently sporadic FSHD cases, with significant implications for genetic counseling, diagnosis, clinical management, and procreative choices for patients and families. [ABSTRACT FROM AUTHOR]

Published
2024
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