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2. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.

Author

Cunha, P., Petit, E., Coutelier, M., Coarelli, G., Mariotti, C., Faber, J., Gaalen, J. van, Damasio, J., Fleszar, Z., Tosi, M., Rocca, C., Michele, G. de, Minnerop, M., Ewenczyk, C., Santorelli, F.M., Heinzmann, A., Bird, T., Amprosi, M., Indelicato, E., Benussi, A., Charles, P., Stendel, C., Romano, S, Scarlato, M., Ber, I. Le, Bassi, M.T., Serrano, M., Schmitz-Hübsch, T., Doss, S., Velzen, G.A.J. Van, Thomas, Q., Trabacca, A., Ortigoza-Escobar, J.D., D'Arrigo, S., Timmann, D., Pantaleoni, C., Martinuzzi, A., Besse-Pinot, E., Marsili, L., Cioffi, E., Nicita, F., Giorgetti, A., Moroni, I., Romaniello, R., Casali, C., Ponger, P., Casari, G., Bot, S.T. de, Ristori, G., Blumkin, L., Borroni, B., Goizet, C., Marelli, C., Boesch, S., Anheim, M., Filla, A., Houlden, H., Bertini, E., Klopstock, T., Synofzik, M., Riant, F., Zanni, G., Magri, S., Bella, D. Di, Nanetti, L., Sequeiros, J., Oliveira, J., Warrenburg, B. Van de, Schöls, L., Taroni, F., Brice, A., Durr, A., Cunha, P., Petit, E., Coutelier, M., Coarelli, G., Mariotti, C., Faber, J., Gaalen, J. van, Damasio, J., Fleszar, Z., Tosi, M., Rocca, C., Michele, G. de, Minnerop, M., Ewenczyk, C., Santorelli, F.M., Heinzmann, A., Bird, T., Amprosi, M., Indelicato, E., Benussi, A., Charles, P., Stendel, C., Romano, S, Scarlato, M., Ber, I. Le, Bassi, M.T., Serrano, M., Schmitz-Hübsch, T., Doss, S., Velzen, G.A.J. Van, Thomas, Q., Trabacca, A., Ortigoza-Escobar, J.D., D'Arrigo, S., Timmann, D., Pantaleoni, C., Martinuzzi, A., Besse-Pinot, E., Marsili, L., Cioffi, E., Nicita, F., Giorgetti, A., Moroni, I., Romaniello, R., Casali, C., Ponger, P., Casari, G., Bot, S.T. de, Ristori, G., Blumkin, L., Borroni, B., Goizet, C., Marelli, C., Boesch, S., Anheim, M., Filla, A., Houlden, H., Bertini, E., Klopstock, T., Synofzik, M., Riant, F., Zanni, G., Magri, S., Bella, D. Di, Nanetti, L., Sequeiros, J., Oliveira, J., Warrenburg, B. Van de, Schöls, L., Taroni, F., Brice, A., and Durr, A.

Abstract

Contains fulltext : 294768.pdf (Publisher’s version ) (Closed access), Although the best-known spinocerebellar ataxias (SCAs) are triplet repeat diseases, many SCAs are not caused by repeat expansions. The rarity of individual non-expansion SCAs, however, has made it difficult to discern genotype-phenotype correlations. We therefore screened individuals who had been found to bear variants in a non-expansion SCA-associated gene through genetic testing, and after we eliminated genetic groups that had fewer than 30 subjects, there were 756 subjects bearing single-nucleotide variants or deletions in one of seven genes: CACNA1A (239 subjects), PRKCG (175), AFG3L2 (101), ITPR1 (91), STUB1 (77), SPTBN2 (39), or KCNC3 (34). We compared age at onset, disease features, and progression by gene and variant. There were no features that reliably distinguished one of these SCAs from another, and several genes-CACNA1A, ITPR1, SPTBN2, and KCNC3-were associated with both adult-onset and infantile-onset forms of disease, which also differed in presentation. Nevertheless, progression was overall very slow, and STUB1-associated disease was the fastest. Several variants in CACNA1A showed particularly wide ranges in age at onset: one variant produced anything from infantile developmental delay to ataxia onset at 64 years of age within the same family. For CACNA1A, ITPR1, and SPTBN2, the type of variant and charge change on the protein greatly affected the phenotype, defying pathogenicity prediction algorithms. Even with next-generation sequencing, accurate diagnosis requires dialogue between the clinician and the geneticist.

Published
2023

3. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review (Journal of Neurology, (2021), 10.1007/s00415-021-10792-3)

Author

Della Vecchia, S., Tessa, A., Dosi, C., Baldacci, J., Pasquariello, R., Antenora, A., Astrea, G., Bassi, M. T., Battini, R., Casali, C., Cioffi, E., Conti, G., De Michele, G., Ferrari, A. R., Filla, A., Fiorillo, C., Fusco, C., Gallone, S., Germiniasi, C., Guerrini, R., Haggiag, S., Lopergolo, D., Martinuzzi, A., Melani, F., Mignarri, A., Panzeri, E., Pini, A., Pinto, A. M., Pochiero, F., Primiano, G., Procopio, E., Renieri, A., Romaniello, R., Sancricca, C., Servidei, S., Spagnoli, C., Ticci, C., Rubegni, A., and Santorelli, F. M.

Published
2021

4. Ngs in hereditary ataxia: When rare becomes frequent

Author

Galatolo, D., De Michele, G., Silvestri, Gabriella, Leuzzi, V., Casali, C., Musumeci, O., Antenora, A., Astrea, G., Barghigiani, M., Battini, R., Battisti, C., Caputi, C., Cioffi, E., Dotti, M. T., Fico, T., Fiorillo, C., Galosi, S., Lieto, M., Malandrini, A., Melone, M. A. B., Mignarri, A., Natale, G., Pegoraro, E., Petrucci, A., Ricca, I., Riso, V., Rossi, Salvatore, Rubegni, A., Scarlatti, A., Tinelli, F., Trovato, R., Tedeschi, G., Tessa, A., Filla, A., Santorelli, F. M., Silvestri G. (ORCID:0000-0002-1950-1468), Rossi S., Galatolo, D., De Michele, G., Silvestri, Gabriella, Leuzzi, V., Casali, C., Musumeci, O., Antenora, A., Astrea, G., Barghigiani, M., Battini, R., Battisti, C., Caputi, C., Cioffi, E., Dotti, M. T., Fico, T., Fiorillo, C., Galosi, S., Lieto, M., Malandrini, A., Melone, M. A. B., Mignarri, A., Natale, G., Pegoraro, E., Petrucci, A., Ricca, I., Riso, V., Rossi, Salvatore, Rubegni, A., Scarlatti, A., Tinelli, F., Trovato, R., Tedeschi, G., Tessa, A., Filla, A., Santorelli, F. M., Silvestri G. (ORCID:0000-0002-1950-1468), and Rossi S.

Abstract

The term hereditary ataxia (HA) refers to a heterogeneous group of neurological disorders with multiple genetic etiologies and a wide spectrum of ataxia‐dominated phenotypes. Massive gene analysis in next‐generation sequencing has entered the HA scenario, broadening our genetic and clinical knowledge of these conditions. In this study, we employed a targeted resequencing panel (TRP) in a large and highly heterogeneous cohort of 377 patients with a clinical diagnosis of HA, but no molecular diagnosis on routine genetic tests. We obtained a positive result (genetic diagnosis) in 33.2% of the patients, a rate significantly higher than those reported in similar studies employing TRP (average 19.4%), and in line with those performed using exome sequencing (ES, average 34.6%). Moreover, 15.6% of the patients had an uncertain molecular diagnosis. STUB1, PRKCG, and SPG7 were the most common causative genes. A comparison with published literature data showed that our panel would have identified 97% of the positive cases reported in previous TRP‐based studies and 92% of those diagnosed by ES. Proper use of multigene panels, when combined with detailed phenotypic data, seems to be even more efficient than ES in clinical practice.

Published
2021

5. A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21

Author

Riso, V., Galatolo, D., Barghigiani, M., Galosi, S., Tessa, A., Ricca, I., Rossi, Salvatore, Caputi, C., Cioffi, E., Leuzzi, V., Casali, C., Santorelli, F. M., Silvestri, Gabriella, Rossi S., Silvestri G. (ORCID:0000-0002-1950-1468), Riso, V., Galatolo, D., Barghigiani, M., Galosi, S., Tessa, A., Ricca, I., Rossi, Salvatore, Caputi, C., Cioffi, E., Leuzzi, V., Casali, C., Santorelli, F. M., Silvestri, Gabriella, Rossi S., and Silvestri G. (ORCID:0000-0002-1950-1468)

Abstract

Background and purpose: Spinocerebellar ataxia 21 (SCA21) is a rare autosomal dominant neurodegenerative disorder caused by TMEM240 gene mutations. To date, SCA21 has been reported only in a limited number of families worldwide. Here, we describe clinical and molecular findings in five additional SCA21 patients from four unrelated families, diagnosed through a multicentre next generation sequencing-based molecular screening project on a large cohort of patients with degenerative and congenital ataxias. Methods: A cohort of 393 patients with ataxia of unknown aetiology was selected. Following the identification of heterozygous pathogenic TMEM240 variants using a target resequencing panel, we carried out an in-depth phenotyping of the novel SCA21 patients. Results: Five patients from four unrelated families, three of Italian and one of Libyan origin, were identified. These patients were carriers of previously reported TMEM240 mutations. Clinically, our SCA21 cohort includes both adult onset, slowly progressive cerebellar ataxias associated with cognitive impairment resembling cerebellar cognitive affective syndrome and early onset forms associated with cognitive delay, neuropsychiatric features, or evidence of hypomyelination on brain magnetic resonance imaging. None of our patients exhibited signs of extrapyramidal involvement. The so-called “recurrent” c.509C>T (p.Pro170Leu) mutation was detected in two of four families, corroborating its role as a hot spot. Conclusions: Our results confirm that SCA21 is present also in Italy, suggesting that it might not be as rare as previously thought. The phenotype of these novel SCA21 patients indicates that slowly progressive cerebellar ataxia, and cognitive and psychiatric symptoms are the most typical clinical features associated with mutations in the TMEM240 gene.

Published
2021

7. SAT0306 SEMIQUANTITATIVE AND QUANTITATIVE ANALYSIS OF LUNG CT IN THE ASSESSMENT OF INTERSTITIAL LUNG DISEASE IN IDIOPATHIC INFLAMMATORY MYOPATHIES WITH A FOCUS ON ANTISYNTHETASE.

Author

Barsotti, S., primary, Roncella, C., additional, Valentini, A., additional, Cavagna, L., additional, Castellana, R., additional, Cioffi, E., additional, Tripoli, A., additional, Caramella, D., additional, Bartholmai, B., additional, Neri, R., additional, Falaschi, F., additional, Romei, C., additional, and Mosca, M., additional

Published
2020
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24. Rischio, crisi e intervento pubblico nell’agricoltura europea

Author

Cafiero, Carlo, Capitanio, Fabian, and Coppola, Antonio Cioffi E Adele

Subjects
Agricultural Finance
Abstract

Currently there is ample discussion amongst EU Institutions (European Commission, European Parliament and Member States' Governments) on the opportunity for setting up a comprehensive EU-wide framework on risk and crises management in agriculture. With the aim of analyzing the position taken by the European Commission on March 2004, the article discusses the possibility of setting up such a common framework, given the prospects of the reformed CAP. In so doing, the existing emergency measures in the various European member States are surveyed and the strengths and weaknesses of the options ad-vanced by the European Commission are appraised. The conclusion is that, given the existing constraints on the possible expansion of financial resources devoted to agriculture in Europe, the institution of a common program based on payment of income integrations or of insurance premiums’ subsidies is highly un-likely. Better prospects are those for an intervention based on supporting farmers’ mutual funds and, more generally, on indirect support to credit, insurance and financial markets, in order to make them more easily accessible by farmers.

Published
2006
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25. New trends in ECT applications from the MADEND project

Author

Buonsanti, M, Bettini, Paolo, Calcagno, A, Cardelli, E, CIOFFI E, M., Coccorese, E, DI BARBA, P, Faba, A, Ferraioli, F, Ferrigno, L, Formisano, A, Laracca, M, Martone, R, Morabito, F. C., Morozo, M, Rubinacci, G, Savini, A, Specogna, R, Stella, Andrea, Trevisan, F, Ventre, S, Versaci, M, and Villone, F.

Published
2004

35. Heterogeneity of pulmonary endothelial cyclic nucleotide response to Pseudomonas aeruginosa ExoY infection.

Author

Morrow, K. A., Seifert, R., Kaever, V., Britain, A. L., Sayner, S. L., Ochoa, C. D., Cioffi, E. A., Frank, D. W., Rich, T. C., and Stevens, T.

Subjects
PSEUDOMONAS aeruginosa, CYCLIC nucleotides, PSEUDOMONADACEAE, LUNG diseases, LUNGS, RESPIRATORY infections, RESPIRATORY diseases, PATHOLOGICAL physiology
Abstract

Here, we tested the hypothesis that a promiscuous bacterial cyclase synthesizes purine and pyrimidine cyclic nucleotides in the pulmonary endothelium. To test this hypothesis, pulmonary endothelial cells were infected with a strain of the Gram-negative bacterium Pseudomonas aeruginosa that introduces only exoenzyme Y (PA103 ΔexoUexoT::Tc pUCPexoY; ExoY+) via a type III secretion system. Purine and pyrimidine cyclic nucleotides were simultaneously detected using mass spectrometry. Pulmonary artery (PAECs) and pulmonary microvascular (PMVECs) endothelial cells both possess basal levels of four different cyclic nucleotides in the following rank order: cAMP > cUMP ≈ cGMP ≈ cCMP. Endothelial gap formation was induced in a time-dependent manner following ExoY+ intoxication. In PAECs, intercellular gaps formed within 2 h and progressively increased in size up to 6 h, when the experiment was terminated. cGMP concentrations increased within 1 h postinfection, whereas cAMP and cUMP concentrations increased within 3 h, and cCMP concentrations increased within 4 h postinfection. In PMVECs, intercellular gaps did not form until 4 h postinfection. Only cGMP and cUMP concentrations increased at 3 and 6 h postinfection, respectively. PAECs generated higher cyclic nucleotide levels than PMVECs, and the cyclic nucleotide levels increased earlier in response to ExoY+ intoxication. Heterogeneity of the cyclic nucleotide signature in response to P. aeruginosa infection exists between PAECs and PMVECs, suggesting the intracellular milieu in PAECs is more conducive to cNMP generation. [ABSTRACT FROM AUTHOR]

Published
2015
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36. Density Functional Theory and X-ray Investigations of P- and M-Hexamethylene Triperoxide Diamine and Its Dialdehyde Derivative

Author

Wierzbicki, A., Salter, E. A., Cioffi, E. A., and Stevens, E. D.

Abstract

Recently, we carried out a density functional theory B3LYP/6-31+G(d) study of hexamethylene triperoxide diamine (HMTD) in order to elucidate the unusual, nearly planar, sp2 hybridization of the two bridgehead nitrogen atoms, each bonded to the three CH2 groups. We postulated that extended bonding orbitals between peroxide oxygens results in charge delocalization which decreases lone-pair repulsion and compensates the energy loss due to the sp3 to sp2 hybridization change on the nitrogen atoms. We have reexamined the crystal structure of HMTD by performing low-temperature, single-crystal X-ray studies, and we have determined that the unit cell contains a 50−50 racemic mixture of enantiomeric forms of HMTD, showing disorder about the mirror plane. At the low temperature, all hydrogen atoms were located and resolved, which was not previously possible. We have also crystallized and performed low-temperature X-ray analysis of a never previously reported dialdehyde form of HMTD, tetramethylene diperoxide diamine dialdehyde (TMDDD), which reveals enantiomers present in the unit cell without disorder. B3LYP density functional theory studies of HMTD and TMDDD are presented, as well as a transition state investigation of possible thermal interconversion of the HMTD enantiomers.

Published
2001

37. Density Functional Theory Studies of Hexamethylene Triperoxide Diamine

Author

Wierzbicki, A. and Cioffi, E.

Abstract

Hexamethylene triperoxide diamine (HMTD) is a powerful initiating explosive belonging to the family of triperoxide energetic materials. Single-crystal X-ray studies of this compound have revealed exactly planar 3-fold coordination about the two bridgehead nitrogen atoms. We have performed density functional theory B3LYP/6-31+G(d) calculations of HMTD to study the electronic nature of this very unusual coordination and to analyze the energetics and structure of this high-energy compound. The calculated geometry of HMTD was found to agree very well with the X-ray data. The vibrational spectrum of this molecule was also calculated and favorably compared to a diffuse reflectance infrared Fourier transform spectroscopy (DRIFTS) single-crystal spectrum.

Published
1999

38. One year in review 2016: idiopathic inflammatory myopathies

Author

Orlandi, M., Simone Barsotti, Cioffi, E., Tenti, S., Toscano, C., Baldini, C., and Neri, R.

Subjects
polymyositis, dermatomyositis, treatment, Myositis, pathogenesis, review, Humans, Immunosuppressive Agents
Abstract

Idiopathic inflammatory myopathies (IIM) are a group of rare, acquired, clinically heterogeneous autoimmune inflammatory muscle disorders characterised by muscle weakness and multisystem involvement. Recently, new concepts about pathogenesis, diagnosis and treatment of these complex diseases have been provided. The purpose of this manuscript is to summarise the most relevant literature contributions published over the last year.

41. Ultrasound imaging for the rheumatologist XXXVIII. Sonographic assessment of the hip in psoriatic arthritis patients

Author

Riente, L., Delle Sedie, A., Garifallia Sakellariou, Filippucci, E., Meenagh, G., Iagnocco, A., Cioffi, E., Valesini, G., Grassi, W., Montecucco, C., and Bombardieri, S.

Subjects
Adult, Male, hip, Adolescent, Northern Ireland, Severity of Illness Index, Young Adult, Predictive Value of Tests, erosion, psoriatic arthritis, synovitis, ultrasound, Humans, Aged, Cell Proliferation, Aged, 80 and over, Femur Neck, Arthritis, Psoriatic, Synovial Membrane, Femur Head, Ultrasonography, Doppler, Hypertrophy, Middle Aged, Prognosis, Italy, Female, Hip Joint
Abstract

The aims of our study were to investigate the prevalence of ultrasound (US) pathological abnormalities in the hip of psoriatic arthritis (PsA) patients and compare them with the clinical findings.Sixty-five PsA patients were enrolled in the study. Bilateral examination of the hip was performed to detect joint effusion, synovial hypertrophy, irregularity of femoral head and neck profile as seen in erosions and/or osteophytes.Joint effusion was detected in 20 out of 130 hips (15%). Synovial hypertrophy was present in 12 out of 20 hips (60%) associated with effusion (9.3% of all hip joints) and only 1 of them showed PD signal. Small effusion without synovial proliferation was imaged in 8 out of 20 hips (40%). On the whole 14 out of 65 patients (21%) had joint effusion with or without synovial hypertrophy using US. No erosions of the femoral head and neck profile were detected whilst osteophytes were imaged in 27 joints (20%). No US abnormalities were demonstrated in 18 hips with pain/tenderness on physical examination, whilst joint effusion was seen in 8 joints which were asymptomatic.US is a useful imaging method to evaluate hip involvement in PsA that could be integrated into routine PsA management even if patients do not complain of hip involvement.

46. Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network

Author

Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali, Rossi, S, Rubegni, A, Riso, V, Barghigiani, M, Bassi, Mt, Battini, R, Bertini, E, Cereda, C, Cioffi, E, Criscuolo, C, Dal Fabbro, B, Dato, C, D'Angelo, Mg, Di Muzio, A, Diamanti, L, Dotti, Mt, Filla, A, Gioiosa, V, Liguori, R, Martinuzzi, A, Massa, R, Mignarri, A, Moroni, R, Musumeci, O, Nicita, F, Orologio, I, Orsi, L, Pegoraro, E, Petrucci, A, Plumari, M, Ricca, I, Rizzo, G, Romano, S, Rumore, R, Sampaolo, S, Scarlato, M, Seri, M, Stefan, C, Straccia, G, Tessa, A, Travaglini, L, Trovato, R, Ulgheri, L, Vazza, G, Orlacchio, A, Silvestri, G, Santorelli, Fm, Melone, Mab, Casali, C., and Rossi S, Rubegni A, Riso V, Barghigiani M, Bassi MT, Battini R, Bertini E, Cereda C, Cioffi E, Criscuolo C, Dal Fabbro B, Dato C, D'Angelo MG, Di Muzio A, Diamanti L, Dotti MT, Filla A, Gioiosa V, Liguori R, Martinuzzi A, Massa R, Mignarri A, Moroni R, Musumeci O, Nicita F, Orologio I, Orsi L, Pegoraro E, Petrucci A, Plumari M, Ricca I, Rizzo G, Romano S, Rumore R, Sampaolo S, Scarlato M, Seri M, Stefan C, Straccia G, Tessa A, Travaglini L, Trovato R, Ulgheri L, Vazza G, Orlacchio A, Silvestri G, Santorelli FM, Melone MAB, Casali C.

Subjects
Settore MED/26 - NEUROLOGIA, spastic paraplegia, HSP, SPAST, SPG4, spastic paraplegia, degeneration of the corticospinal tract, Hereditary spastic paraplegia, HSP, SPAST, inherited rare neurologic disorder, Neurology (clinical), SPG4, Spastic paraplegia type 4, Genetics (clinical)
Abstract

Background and Objectives: Hereditary spastic paraplegias (HSPs) are a group of inherited rare neurologic disorders characterized by length-dependent degeneration of the corticospinal tracts and dorsal columns, whose prominent clinical feature is represented by spastic gait. Spastic paraplegia type 4 (SPG4, SPAST-HSP) is the most common form. We present both clinical and molecular findings of a large cohort of patients, with the aim of (1) defining the clinical spectrum of SPAST-HSP in Italy; (2) describing their molecular features; and (3) assessing genotype-phenotype correlations to identify features associated with worse disability.MethodsA cross-sectional retrospective study with molecular and clinical data collected in an anonymized database was performed.ResultsA total of 723 Italian patients with SPAST-HSP (58% men) from 316 families, with a median age at onset of 35 years, were included. Penetrance was 97.8%, with men showing higher Spastic Paraplegia Rating Scale (SPRS) scores (19.67 ± 12.58 vs 16.15 ± 12.61, p = 0.009). In 26.6% of patients with SPAST-HSP, we observed a complicated phenotype, mainly including intellectual disability (8%), polyneuropathy (6.7%), and cognitive decline (6.5%). Late-onset cases seemed to progress more rapidly, and patients with a longer disease course displayed a more severe neurologic disability, with higher SPATAX (3.61 ± 1.46 vs 2.71 ± 1.20, p < 0.001) and SPRS scores (22.63 ± 11.81 vs 12.40 ± 8.83, p < 0.001). Overall, 186 different variants in the SPAST gene were recorded, of which 48 were novel. Patients with SPAST-HSP harboring missense variants displayed intellectual disability (14.5% vs 4.4%, p < 0.001) more frequently, whereas patients with truncating variants presented more commonly cognitive decline (9.7% vs 2.6%, p = 0.001), cerebral atrophy (11.2% vs 3.4%, p = 0.003), lower limb spasticity (61.5% vs 44.5%), urinary symptoms (50.0% vs 31.3%, p < 0.001), and sensorimotor polyneuropathy (11.1% vs 1.1%, p < 0.001). Increasing disease duration (DD) and abnormal motor evoked potentials (MEPs) were also associated with increased likelihood of worse disability (SPATAX score>3).DiscussionThe SPAST-HSP phenotypic spectrum in Italian patients confirms a predominantly pure form of HSP with mild-to-moderate disability in 75% of cases, and slight prevalence of men, who appeared more severely affected. Early-onset cases with intellectual disability were more frequent among patients carrying missense SPAST variants, whereas patients with truncating variants showed a more complicated disease. Both longer DD and altered MEPs are associated with worse disability. Methods: A cross-sectional retrospective study with molecular and clinical data collected in an anonymized database was performed. Results: A total of 723 Italian patients with SPAST-HSP (58%men) from 316 families, with a median age at onset of 35 years, were included. Penetrance was 97.8%, withmen showing higher Spastic Paraplegia Rating Scale (SPRS) scores (19.67 ± 12.58 vs 16.15 ± 12.61, p = 0.009). In 26.6% of patients with SPAST-HSP, we observed a complicated phenotype, mainly including intellectual disability (8%), polyneuropathy (6.7%), and cognitive decline (6.5%). Late-onset cases seemed to progress more rapidly, and patients with a longer disease course displayed a more severe neurologic disability, with higher SPATAX (3.61 ± 1.46 vs 2.71 ± 1.20, p < 0.001) and SPRS scores (22.63 ± 11.81 vs 12.40 ± 8.83, p < 0.001). Overall, 186 different variants in the SPAST gene were recorded, of which 48 were novel. Patients with SPAST-HSP harboring missense variants displayed intellectual disability (14.5% vs 4.4%, p < 0.001) more frequently,whereas patients with truncating variants presentedmore commonly cognitive decline (9.7%vs 2.6%, p = 0.001), cerebral atrophy (11.2% vs 3.4%, p = 0.003), lower limb spasticity (61.5% vs 44.5%), urinary symptoms (50.0% vs 31.3%, p < 0.001), and sensorimotor polyneuropathy (11.1% vs 1.1%, p < 0.001). Increasing disease duration (DD) and abnormalmotor evoked potentials (MEPs) were also associated with increased likelihood of worse disability (SPATAX score>3). Discussion The SPAST-HSP phenotypic spectrum in Italian patients confirms a predominantly pure form of HSP with mild-to-moderate disability in 75% of cases, and slight prevalence of men, who appeared more severely affected. Early-onset cases with intellectual disability were more frequent among patients carrying missense SPAST variants, whereas patients with truncating variants showed a more complicated disease. Both longer DD and altered MEPs are associated with worse disability.

Published
2022

49. Ngs in hereditary ataxia: When rare becomes frequent

Author

Guja Astrea, Roberta Battini, Alessandro Filla, Salvatore Rossi, Vittorio Riso, Marina Melone, Gioacchino Tedeschi, Antonella Antenora, Carlo Casali, Rosanna Trovato, Elena Pegoraro, Gabriella Silvestri, Filippo M. Santorelli, Melissa Barghigiani, Antonio Petrucci, Serena Galosi, Tommasina Fico, Andrea Mignarri, Caterina Caputi, Chiara Fiorillo, Maria Lieto, Alessandro Malandrini, Arianna Scarlatti, Maria Teresa Dotti, Olimpia Musumeci, Ettore Cioffi, Ivana Ricca, Gemma Natale, Francesca Tinelli, Giovanna De Michele, Alessandra Tessa, Carla Battisti, Anna Rubegni, Daniele Galatolo, Vincenzo Leuzzi, Giuseppe De Michele, Galatolo, D, De Michele, G, Silvestri, G, Leuzzi, V, Casali, C, Musumeci, O, Antenora, A, Astrea, G, Barghigiani, M, Battini, Roberta, Battisti, C, Caputi, C, Cioffi, E, Dotti, Mt, Fico, T, Fiorillo, C, Galosi, S, Lieto, M, Alessandro Malandrini, A, Melone, Mab, Mignarri, A, Natale, G, Pegoraro, E, Petrucci, A, Ricca, I, Riso, V, Rossi, S, Rubegni, A, Scarlatti, A, Tinelli, F, Trovato, R, Tedeschi, G, Tessa, A, and Filla, A and Santorelli FM

Subjects
Male, Exome sequencing, HA, Bioinformatics, TRP, Whole Exome Sequencing, Genesi, 80 and over, Medicine, Biology (General), Variant, Child, Genesis, Spectroscopy, Spinocerebellar Degenerations, Aged, 80 and over, Cohort, High-Throughput Nucleotide Sequencing, General Medicine, Middle Aged, Phenotype, Computer Science Applications, Chemistry, Settore MED/26 - NEUROLOGIA, Child, Preschool, Mutation (genetic algorithm), Female, Adult, Diagnostic yield, Mutation, Next‐generation sequencing, Targeted resequencing panel, Adolescent, Aged, Genetic Testing, Humans, Young Adult, QH301-705.5, Article, Catalysis, DNA sequencing, Inorganic Chemistry, Hereditary ataxia, Physical and Theoretical Chemistry, Preschool, QD1-999, cohort, diagnostic yield, exome sequencing, mutation, next-generation sequencing, targeted resequencing panel, variant, Molecular Biology, Gene, business.industry, Organic Chemistry, Etiology, business
Abstract

The term hereditary ataxia (HA) refers to a heterogeneous group of neurological disorders with multiple genetic etiologies and a wide spectrum of ataxia-dominated phenotypes. Massive gene analysis in next-generation sequencing has entered the HA scenario, broadening our genetic and clinical knowledge of these conditions. In this study, we employed a targeted resequencing panel (TRP) in a large and highly heterogeneous cohort of 377 patients with a clinical diagnosis of HA, but no molecular diagnosis on routine genetic tests. We obtained a positive result (genetic diagnosis) in 33.2% of the patients, a rate significantly higher than those reported in similar studies employing TRP (average 19.4%), and in line with those performed using exome sequencing (ES, average 34.6%). Moreover, 15.6% of the patients had an uncertain molecular diagnosis. STUB1, PRKCG, and SPG7 were the most common causative genes. A comparison with published literature data showed that our panel would have identified 97% of the positive cases reported in previous TRP-based studies and 92% of those diagnosed by ES. Proper use of multigene panels, when combined with detailed phenotypic data, seems to be even more efficient than ES in clinical practice.

Published
2021

50. Design and Science for the Valorisation of Residues and By-products of the Wine Industry

Author

Elena Cioffi, Mario Buono, Sonia Capece, Severina Pacifico, Raposo D., Martins N., Brandão D., Cioffi, E, Capece, A, Pacifico, S, and Buono, M.

Subjects
Wine, Natural resource economics, Process (engineering), Circular economy, Sustainability, Production (economics), Business, Valorisation, Wine industry, Winemaking
Abstract

In view of the urgent need to implement the transition from the “take-make-use-lose” industrial system to a circular and regenerative one, this study focuses on improving the sustainability of the wine industry, in particular the importance assumed by the management of residues and by-products of the wine production system from a circular economy and environmental protection perspective, from the planting of vines, to the production of grapes, up to the process of transformation and recovery of waste. There are management methods and limitations on alternative uses regarding by-products and residues deriving from winemaking, that are conditioned by precise regulations.

Published
2021

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