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2. Educational Robotics in Down Syndrome: A Feasibility Study

Author

Bargagna, S., Castro, E., Cecchi, F., Cioni, G., Dario, P., Dell'Omo, M., Di Lieto, M. C., Inguaggiato, E., Martinelli, A., Pecini, C., and Sgandurra, G.

Abstract

Educational robotics (ER) uses robotic kits as a channel for education and collaborative learning in a play setting. Thanks to adaptability of robots, ER could facilitate inclusion of special-needs children, such as children with Down syndrome (DS), in learning programs. In a previous study, we provided evidence that ER could promote superior cognitive functions, such as executive functions, which are involved in problem solving, reasoning and planning in typically developing preschool children. In this preliminary study, we aimed to evaluate ER training feasibility, adapting methodology and previously experimented activities to promote executive functions in DS children. Eight DS children carried out 45-min weekly group sessions for 8 weeks in an ER laboratory (ER-Lab) using the Bee-Bot. Training setting was generally well-suited for this small sample of DS children. Due to sample heterogeneity, qualitative results of only two exemplificative children are presented and discussed. Results indicate that Bee-Bot is a very significant device for promoting interest, attention and interaction with adults and peers. Promotion of executive functions seemed to be possible in one child, who eagerly participated in ER-Lab activities.

Published
2019
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3. Complex neurodevelopmental disorder in a preterm child with unilateral cerebellar hemorrhage

Author

Bonaventura, E, Purpura, G, Pasquariello, R, Da Prato, S, Di Lieto, M, Barsotti, J, Paolicelli, P, Cioni, G, Tinelli, F, Bonaventura, Eleonora, Purpura, Giulia, Pasquariello, Rosa, Da Prato, Sara, Di Lieto, Maria Chiara, Barsotti, Jessica, Paolicelli, Paola Bruna, Cioni, Giovanni, Tinelli, Francesca, Bonaventura, E, Purpura, G, Pasquariello, R, Da Prato, S, Di Lieto, M, Barsotti, J, Paolicelli, P, Cioni, G, Tinelli, F, Bonaventura, Eleonora, Purpura, Giulia, Pasquariello, Rosa, Da Prato, Sara, Di Lieto, Maria Chiara, Barsotti, Jessica, Paolicelli, Paola Bruna, Cioni, Giovanni, and Tinelli, Francesca

Abstract

Background: Cerebellar hemorrhage (CBH) represents the main form of direct cerebellar injury in preterm infants. Most CBHs occur bilaterally, while isolated unilateral hemorrhages are less frequent and often associated with focal atrophy. Limited and heterogeneous data exist on preterm birth, unilateral CBH and consequent long-term neurodevelopmental and non-motor outcomes. Case report: This is the case of a six-year-old child, born preterm, diagnosed with a complete atrophy of the right cerebellar hemisphere through brain MRI and presenting mild social atypies, visuo-perceptive and pragmatic language impairment, but only minor neurological signs. Discussion: Despite the large extension of the patient's CBH neurological sequelae were mild, likely due to cerebellar plasticity, and only specific deficits in non-motor, behavioral and social skills were shown. Evidence exists on cerebellar contribution to dynamic visual information processing and to perceptual signals detection and prediction, that might explain the presence of non-motor signs.

Published
2022

6. Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Author

Bott, LC, Forouhan, M, Lieto, M, Sala, AJ, Ellerington, R, Johnson, JO, Speciale, AA, Criscuolo, C, Filla, A, Chitayat, D, Alkhunaizi, E, Shannon, P, Nemeth, AH, Angelucci, F, Lim, WF, Striano, P, Zara, F, Helbig, I, Muona, M, Courage, C, Lehesjoki, A-E, Berkovic, SF, Fischbeck, KH, Brancati, F, Morimoto, RI, Wood, MJA, Rinaldi, C, Bott, LC, Forouhan, M, Lieto, M, Sala, AJ, Ellerington, R, Johnson, JO, Speciale, AA, Criscuolo, C, Filla, A, Chitayat, D, Alkhunaizi, E, Shannon, P, Nemeth, AH, Angelucci, F, Lim, WF, Striano, P, Zara, F, Helbig, I, Muona, M, Courage, C, Lehesjoki, A-E, Berkovic, SF, Fischbeck, KH, Brancati, F, Morimoto, RI, Wood, MJA, and Rinaldi, C

Abstract

The vacuolar H+-ATPase is a large multi-subunit proton pump, composed of an integral membrane V0 domain, involved in proton translocation, and a peripheral V1 domain, catalysing ATP hydrolysis. This complex is widely distributed on the membrane of various subcellular organelles, such as endosomes and lysosomes, and plays a critical role in cellular processes ranging from autophagy to protein trafficking and endocytosis. Variants in ATP6V0A1, the brain-enriched isoform in the V0 domain, have been recently associated with developmental delay and epilepsy in four individuals. Here, we identified 17 individuals from 14 unrelated families with both with new and previously characterized variants in this gene, representing the largest cohort to date. Five affected subjects with biallelic variants in this gene presented with a phenotype of early-onset progressive myoclonus epilepsy with ataxia, while 12 individuals carried de novo missense variants and showed severe developmental and epileptic encephalopathy. The R740Q mutation, which alone accounts for almost 50% of the mutations identified among our cases, leads to failure of lysosomal hydrolysis by directly impairing acidification of the endolysosomal compartment, causing autophagic dysfunction and severe developmental defect in Caenorhabditis elegans. Altogether, our findings further expand the neurological phenotype associated with variants in this gene and provide a direct link with endolysosomal acidification in the pathophysiology of ATP6V0A1-related conditions.

Published
2021

7. 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

10. Safety and efficacy of nivolumab for metastatic renal cell carcinoma: real-world results from an expanded access programme

Author

De Giorgi, U, Carteni, G, Giannarelli, D, Basso, U, Galli, L, Cortesi, E, Caserta, C, Pignata, S, Sabbatini, R, Bearz, A, Buti, S, Lo Re, G, Berruti, A, Bracarda, S, Cognetti, F, Rastelli, F, Fornarini, G, Porta, C, Turci, D, Sternberg, Cn, Procopio, G, Falcone, A, Roila, F, Cascinu, S, Tirelli, U, Giustini, L, Sobrero, A, Cappuzzo, F, Tortora, G, Tassinari, D, Passalacqua, R, Pazzola, A, Surico, G, Maio, M, Benedetti, G, Barone, C, Adamo, V, Ricevuto, E, De Censi, A, Spada, M, Tonini, G, Pinto, C, Ciuffreda, L, Ruggeri, Em, Bengala, C, Scotti, V, Fagnani, D, Bonetti, A, Mitterer, M, Castiglione, F, Bidoli, P, Ferrau, F, Crino, L, Frassoldati, A, Marchetti, P, Mini, E, Scoppola, A, Verusio, C, Favaretto, A, Di Costanzo, F, Fasola, G, Merlano, M, Artioli, F, Di Leo, A, Romito, S, Maestri, A, Giorgio, Cg, Ionta, Mt, Verderame, F, Zampa, G, Numico, G, Minelli, M, Tagliaferri, P, Foa, P, Palmiotti, G, De Placido, S, Mattioli, R, Iuliano, F, Defraia, E, Siena, S, Clerico, M, Salvagno, L, Ceresoli, Gl, Bernardo, A, Di Lieto, M, Moroni, M, Maisano, M, Scartozzi, M, Scagliotti, G, Soraru, M, Pepe, S, Scaltriti, A, Gebbia, V, Testa, E, Lorusso, V, Bordonaro, R, De Signoribus, G, Tedde, N, Santoro, A, Francini, G, Aondio, G, De Giorgi, U., Carteni, G., Giannarelli, D., Basso, U., Galli, L., Cortesi, E., Caserta, C., Pignata, S., Sabbatini, R., Bearz, A., Buti, S., Lo Re, G., Berruti, A., Bracarda, S., Cognetti, F., Rastelli, F., Fornarini, G., Porta, C., Turci, D., Sternberg, C. N., Procopio, G., Falcone, A., Roila, F., Cascinu, S., Tirelli, U., Giustini, L., Sobrero, A., Cappuzzo, F., Tassinari, D., Passalacqua, R., Pazzola, A., Surico, G., Maio, M., Benedetti, G., Barone, C., Adamo, V., Ricevuto, E., De Censi, A., Spada, M., Tonini, G., Pinto, C., Ciuffreda, L., Ruggeri, E. M., Bengala, C., Scotti, V., Fagnani, D., Bonetti, A., Mitterer, M., Castiglione, F., Bidoli, P., Ferrau, F., Crino, L., Frassoldati, A., Marchetti, P., Mini, E., Scoppola, A., Verusio, C., Favaretto, A., Di Costanzo, F., Fasola, G., Merlano, M., Artioli, F., Di Leo, A., Romito, S., Maestri, A., Giannitto Giorgio, C., Ionta, M. T., Verderame, F., Zampa, G., Numico, G., Minelli, M., Tagliaferri, P., Foa, P., Palmiotti, G., De Placido, S., Mattioli, R., Iuliano, F., Defraia, E., Siena, S., Clerico, M., Salvagno, L., Ceresoli, G. L., Bernardo, A., Di Lieto, M., Moroni, M., Maisano, M., Scartozzi, M., Scagliotti, G., Soraru, M., Pepe, S., Scaltriti, A., Gebbia, V., Testa, E., Lorusso, V., Bordonaro, R., De Signoribus, G., Tedde, N., Santoro, A., Francini, G., Aondio, G., De Giorgi, U, Cartenì, G, Giannarelli, D, Basso, U, Galli, L, Cortesi, E, Caserta, C, Pignata, S, Sabbatini, R, Bearz, A, Buti, S, Lo Re, G, Berruti, A, Bracarda, S, Cognetti, F, Rastelli, F, Fornarini, G, Porta, C, Turci, D, Sternberg, C, Procopio, G, and Bidoli, P

Subjects
0301 basic medicine, Male, expanded access programme, nivolumab, real-world experience, renal cell cancer, Antineoplastic Agent, 0302 clinical medicine, Antineoplastic Agents, Immunological, 80 and over, Sunitinib, Medicine, Urology, Aged, 80 and over, Sulfonamides, Brain Neoplasms, Kidney Neoplasm, Common Terminology Criteria for Adverse Events, Middle Aged, Kidney Neoplasms, Progression-Free Survival, Survival Rate, Everolimu, Immunological, Response Evaluation Criteria in Solid Tumors, 030220 oncology & carcinogenesis, Retreatment, Female, Nivolumab, medicine.drug, Human, Adult, medicine.medical_specialty, Indazoles, metastatic renal cancer, Response Evaluation Criteria in Solid Tumor, Antineoplastic Agents, Bone Neoplasms, Bone Neoplasm, expanded access programme, nivolumab, real-world experience, renal cell cancer, Adult, Aged, Aged, 80 and over, Antineoplastic Agents, Antineoplastic Agents, Immunological, Bone Neoplasms, Brain Neoplasms, Carcinoma, Renal Cell, Everolimus, Female, Humans, Kidney Neoplasms, Male, Middle Aged, Nivolumab, Progression-Free Survival, Pyrimidines, Response Evaluation Criteria in Solid Tumors, Retreatment, Sulfonamides, Sunitinib, Survival Rate, Sulfonamide, Pazopanib, Brain Neoplasm, 03 medical and health sciences, Aged, Carcinoma, Renal Cell, Everolimus, Humans, Pyrimidines, Internal medicine, Progression-free survival, Survival rate, business.industry, Carcinoma, Renal Cell, 030104 developmental biology, Pyrimidine, Expanded access, business
Abstract

Objective: To report the safety and efficacy results of patients enrolled in the Italian Nivolumab Renal Cell Cancer Expanded Access Programme. Patients and Methods: Patients with metastatic renal cell cancer (mRCC) previously treated with agents targeting the vascular endothelial growth factor pathway were eligible to receive nivolumab 3 mg/kg once every 2 weeks. Patients included in the analysis had received ≥1 dose of nivolumab and were monitored for adverse events (AEs) using Common Terminology Criteria for Adverse Events (CTCAE) v.4.0. Results: A total of 389 patients were enrolled between July 2015 and April 2016, of whom 18% were aged ≥75 years, 6.7% had non-clear cell RCC, 49.6% had bone and 8.2% brain metastases, and 79% had received ≥2 previous lines of therapy. The most common any-grade treatment-related AEs were fatigue (13%) and rash (9%). Twenty-two patients (5.7%) discontinued treatment because of AEs. There were no treatment-related deaths. The objective response rate was 23.1%. At a median follow-up of 12 months, the median progression-free survival was 4.5 months (95% confidence interval 3.7–6.2) and the 12-month overall survival rate was 63%. Similar survival rates were reported among patients with non-clear-cell histology, elderly patients, those with bone and/or brain metastases, and those who had received prior first-line sunitinib or pazopanib, or prior everolimus. Conclusion: The safety and efficacy observed were consistent with those reported in the pivotal Checkmate 025 trial. Results in patients with non-clear-cell mRCC who were elderly, pretreated with everolimus, and had bone and/or brain metastases encourage the use of nivolumab in these categories of patients. © 2018 The Authors BJU International

Published
2019

11. The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families

Author

Lieto, M., Riso, Vittorio, Galatolo, D., De Michele, G., Rossi, S., Barghigiani, M., Cocozza, S., Pontillo, G., Trovato, R., Sacca, F., Salvatore, E., Tessa, A., Filla, A., Santorelli, F. M., Silvestri, Gabriella, Riso V., Silvestri G. (ORCID:0000-0002-1950-1468), Lieto, M., Riso, Vittorio, Galatolo, D., De Michele, G., Rossi, S., Barghigiani, M., Cocozza, S., Pontillo, G., Trovato, R., Sacca, F., Salvatore, E., Tessa, A., Filla, A., Santorelli, F. M., Silvestri, Gabriella, Riso V., and Silvestri G. (ORCID:0000-0002-1950-1468)

Abstract

Background and purpose: Heterozygous mutations in the STUB1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia (SCA) associated with cerebellar cognitive-affective syndrome (CCAS), named SCA48. Methods: Molecular screening was performed in a cohort of 235 unrelated patients with adult-onset, autosomal dominant (17) or sporadic (218) cerebellar ataxia, negative for pathological trinucleotide expansions in the common SCAs, FRDA and FXTAS loci, by using targeted multigene panels or whole-exome sequencing. Bioinformatics analyses, detailed neurological phenotyping and family segregation studies corroborated the pathogenicity of the novel STUB1 mutations. Clinico-diagnostic findings were reviewed to define the phenotypic spectrum. Results: Eight heterozygous STUB1 mutations were identified, six of which were novel in 11 patients from eight index families, giving an estimated overall frequency of 3.4% (8/235) for SCA48 in our study cohort, rising to 23.5% (4/17) when considering only familial cases. All our SCA48 patients had cerebellar ataxia and dysarthria associated with cerebellar atrophy on brain magnetic resonance imaging; of note, many cases were also associated with parkinsonism, chorea and dystonia. CCAS also occurred frequently, whereas definite signs of pyramidal tract dysfunction and peripheral nervous system involvement were absent. One SCA48 patient presented with hypogonadism, associated with other autoimmune endocrine dysfunctions. Conclusions: Our results support SCA48 as a significant cause of adult-onset SCA. Besides CCAS, our SCA48 patients often showed movement disorders and other clinical manifestations previously described in SCAR16, linked to biallelic variants in the same gene, thus suggesting a continuous clinical spectrum and significant overlap amongst recessive and dominantly inherited mutations in STUB1.

Published
2020

13. Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

Author

Coutelier, M. Hammer, M.B. Stevanin, G. Monin, M.-L. Davoine, C.-S. Mochel, F. Labauge, P. Ewenczyk, C. Ding, J. Gibbs, J.R. Hannequin, D. Melki, J. Toutain, A. Laugel, V. Forlani, S. Charles, P. Broussolle, E. Thobois, S. Afenjar, A. Anheim, M. Calvas, P. Castelnovo, G. De Broucker, T. Vidailhet, M. Moulignier, A. Ghnassia, R.T. Tallaksen, C. Mignot, C. Goizet, C. Le Ber, I. Ollagnon-Roman, E. Pouget, J. Brice, A. Singleton, A. Durr, A. Belarabi, S. Hamri, A. Tazir, M. Boesch, S. Pandolfo, M. Ullmann, U. Jardim, L. Guergueltcheva, V. Tournev, I. Soong, B.-W. Linarès, O.L.P. Nielsen, J.E. Svenstrup, K. Zaki, M. Azulay, J.-P. Banneau, G. Boesfplug-Tanguy, O. Burgo, A. Cazeneuve, C. Darios, F. Depienne, C. Duyckaerts, C. Fontaine, B. Hazan, J. Koenig, M. Marelli, C. N'guyen, K. Rodriguez, D. Sittler, A. Verny, C. Bauer, P. Schöls, L. Schüle, R. Koutsis, G. Lossos, A. Antenora, A. Bassi, M.T. Basso, M. Bertini, E. Brusco, A. Casali, C. Casari, G. Criscuolo, C. Filla, A. Lieto, M. Orsi, L. Santorelli, F.M. Valente, E.M. Vavla, M. Vazza, G. Megarbane, A. Benomar, A. Roxburgh, R. Erichsen, A.K. Alonso, I. Coutinho, P. Loureiro, J.L. Sequeiros, J. Salih, M. Kostic, V.S. Axpe, I.R. Roumani, S. Kremer, B. Van Roon-Mom, W. Boukhris, A. Mhiri, C. Karabay, A. Nethisinghe, S. Okane, C. Oliva, M. Reid, E. Warner, T. Wood, N. Spastic Paraplegia Ataxia Network

Abstract

IMPORTANCE Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients, candidate gene sequencing or focused resequencing arrays do not allow investigators to reach a genetic conclusion. OBJECTIVES To assess the efficacy of exome-targeted capture sequencing to detect mutations in genes broadly linked to CA in a large cohort of undiagnosed patients and to investigate their prevalence. DESIGN, SETTING, AND PARTICIPANTS Three hundred nineteen index patients with CA and without a history of dominant transmission were included in the this cohort study by the Spastic Paraplegia and Ataxia Network. Centralized storage was in the DNA and cell bank of the Brain and Spine Institute, Salpetriere Hospital, Paris, France. Patients were classified into 6 clinical groups, with the largest being those with spastic ataxia (ie, CA with pyramidal signs [n = 100]). Sequencing was performed from January 1, 2014, through December 31, 2016. Detected variants were classified as very probably or definitely causative, possibly causative, or of unknown significance based on genetic evidence and genotype-phenotype considerations. MAIN OUTCOMES AND MEASURES Identification of variants in genes broadly linked to CA, classified in pathogenicity groups. RESULTS The 319 included patients had equal sex distribution (160 female [50.2%] and 159 male patients [49.8%]; mean [SD] age at onset, 27.9 [18.6] years). The age at onset was younger than 25 years for 131 of 298 patients (44.0%) with complete clinical information. Consanguinity was present in 101 of 298 (33.9%). Very probable or definite diagnoses were achieved for 72 patients (22.6%), with an additional 19 (6.0%) harboring possibly pathogenic variants. The most frequently mutated genes were SPG7 (n = 14), SACS (n = 8), SETX (n = 7), SYNE1 (n = 6), and CACNA1A (n = 6). The highest diagnostic rate was obtained for patients with an autosomal recessive CA with oculomotor apraxia-like phenotype (6 of 17 [35.3%]) or spastic ataxia (35 of 100 [35.0%]) and patients with onset before 25 years of age (41 of 131 [31.3%]). Peculiar phenotypes were reported for patients carrying KCND3 or ERCC5 variants. CONCLUSIONS AND RELEVANCE Exome capture followed by targeted analysis allows the molecular diagnosis in patients with highly heterogeneous mendelian disorders, such as CA, without prior assumption of the inheritance mode or causative gene. Being commonly available without specific design need, this procedure allows testing of a broader range of genes, consequently describing less classic phenotype-genotype correlations, and post hoc reanalysis of data as new genes are implicated in the disease. © 2018 American Medical Association. All rights reserved.

Published
2018

14. Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Author

D'Amore, A. Tessa, A. Casali, C. Dotti, M.T. Filla, A. Silvestri, G. Antenora, A. Astrea, G. Barghigiani, M. Battini, R. Battisti, C. Bruno, I. Cereda, C. Dato, C. Di Iorio, G. Donadio, V. Felicori, M. Fini, N. Fiorillo, C. Gallone, S. Gemignani, F. Gigli, G.L. Graziano, C. Guerrini, R. Gurrieri, F. Kariminejad, A. Lieto, M. Marques LourenḈo, C. Malandrini, A. Mandich, P. Marcotulli, C. Mari, F. Massacesi, L. Melone, M.A.B. Mignarri, A. Milone, R. Musumeci, O. Pegoraro, E. Perna, A. Petrucci, A. Pini, A. Pochiero, F. Pons, M.R. Ricca, I. Rossi, S. Seri, M. Stanzial, F. Tinelli, F. Toscano, A. Valente, M. Federico, A. Rubegni, A. Santorelli, F.M.

Abstract

Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Recent clinical use of next generation sequencing (NGS) methodologies suggests that they facilitate the diagnostic approach to HSP, but the power of NGS as a first-tier diagnostic procedure is unclear. The larger-than-expected genetic heterogeneity—there are over 80 potential disease-associated genes—and frequent overlap with other clinical conditions affecting the motor system make a molecular diagnosis in HSP cumbersome and time consuming. In a single-center, cross-sectional study, spanning 4 years, 239 subjects with a clinical diagnosis of HSP underwent molecular screening of a large set of genes, using two different customized NGS panels. The latest version of our targeted sequencing panel (SpastiSure3.0) comprises 118 genes known to be associated with HSP. Using an in-house validated bioinformatics pipeline and several in silico tools to predict mutation pathogenicity, we obtained a positive diagnostic yield of 29% (70/239), whereas variants of unknown significance (VUS) were found in 86 patients (36%), and 83 cases remained unsolved. This study is among the largest screenings of consecutive HSP index cases enrolled in real-life clinical-diagnostic settings. Its results corroborate NGS as a modern, first-step procedure for molecular diagnosis of HSP. It also disclosed a significant number of new mutations in ultra-rare genes, expanding the clinical spectrum, and genetic landscape of HSP, at least in Italy. © Copyright © 2018 D'Amore, Tessa, Casali, Dotti, Filla, Silvestri, Antenora, Astrea, Barghigiani, Battini, Battisti, Bruno, Cereda, Dato, Di Iorio, Donadio, Felicori, Fini, Fiorillo, Gallone, Gemignani, Gigli, Graziano, Guerrini, Gurrieri, Kariminejad, Lieto, Marques LourenḈo, Malandrini, Mandich, Marcotulli, Mari, Massacesi, Melone, Mignarri, Milone, Musumeci, Pegoraro, Perna, Petrucci, Pini, Pochiero, Pons, Ricca, Rossi, Seri, Stanzial, Tinelli, Toscano, Valente, Federico, Rubegni and Santorelli.

Published
2018

15. The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families

Author

Lieto, M., primary, Riso, V., additional, Galatolo, D., additional, De Michele, G., additional, Rossi, S., additional, Barghigiani, M., additional, Cocozza, S., additional, Pontillo, G., additional, Trovato, R., additional, Saccà, F., additional, Salvatore, E., additional, Tessa, A., additional, Filla, A., additional, Santorelli, F. M., additional, and Silvestri, G., additional

Published
2019
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18. Educational Robotics in Down Syndrome: A Feasibility Study

Author

Bargagna, S., primary, Castro, E., additional, Cecchi, F., additional, Cioni, G., additional, Dario, P., additional, Dell’Omo, M., additional, Di Lieto, M. C., additional, Inguaggiato, E., additional, Martinelli, A., additional, Pecini, C., additional, and Sgandurra, G., additional

Published
2018
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19. Observing gravitational-wave transient GW150914 with minimal assumptions

Author

Abbott, B. P., Abbott, Abbott, R., Abernathy, T. D., Acernese, M. R., Ackley, F., Adams, K., Adams, C., Addesso, T., Adhikari, P., Adya, R. X., Affeldt, V. B., Agathos, C., Agatsuma, M., Aggarwal, K., Aguiar, N., Aiello, O. D., Ain, L., Ajith, A., Allen, P., Allocca, B., Altin, A., Anderson, P. A., Anderson, S. B., Arai, W. G., Araya, K., Arceneaux, M. C., Areeda, C. C., Arnaud, J. S., Arun, N., Ascenzi, K. G., Ashton, S., Ast, G., Aston, M., Astone, S. M., Aufmuth, P., Aulbert, P., Babak, C., Bacon, S., Bader, P., Baker, M. K. M., And, P. T., Baldaccini, Francesca, Ballardin, And, Ballmer, G., Barayoga, S. W., Barclay, J. C., Barish, S. E., Barker, B. C., Barone, D., Barr, F., Barsotti, B., Barsuglia, L., Barta, M., Bartlett, D., Bartos, J., Bassiri, I., Basti, R., Batch, A., Baune, J. C., Bavigadda, C., Bazzan, V., Behnke, M., Bejger, B., Bell, M., Bell, A. S., Berger, C. J., Bergman, B. K., Bergmann, J., Berry, G., Bersanetti, C. P. L., Bertolini, D., Betzwieser, A., Bhagwat, J., Bhandare, S., Bilenko, R., Billingsley, I. A., Birch, G., Birney, J., Biscans, R., Bisht, S., Bitossi, A., Biwer, M., Bizouard, C., Blackburn, M. A., Blackburn, J. K., Blair, L., Blair, C. D., Blair, D. G., Bloemen, R. M., Bock, S., Bodiya, O., Boer, T. P., Bogaert, M., Bogan, G., Bohe, C., Bojtos, A., Bond, P., Bondu, C., Bonnand, F., Boom, R., Bork, B. A., Boschi, R., Bose, V., Bouffanais, S., Bozzi, Y., Bradaschia, A., Brady, C., Braginsky, P. R., Branchesi, V. B., Brau, M., Briant, J. E., Brillet, T., Brinkmann, A., Brisson, M., Brockill, V., Brooks, P., Brown, A. F., Brown, D. A., Brown, D. D., Buchanan, N. M., Buikema, C. C., Bulik, A., Bulten, T., Buonanno, H. J., Buskulic, A., Buy, D., Byer, C., Cadonati, R. L., Cagnoli, L., Cahillane, G., Calderón Bustillo, C., Callister, J., Calloni, T., Camp, E., Cannon, J. B., Cao, K. C., Capano, J., Capocasa, C. D., Carbognani, E., Caride, F., Casanueva Diaz, S., Casentini, J., Caudill, C., Cavaglià, S., Cavalier, M., Cavalieri, F., Cella, R., Cepeda, G., Cerboni Baiardi, C. B., Cerretani, L., Cesarini, G., Chakraborty, E., Chatterji, R., Chalermsongsak, S., Chamberlin, T., Chan, S. J., Chao, M., Charlton, S., Chassande Mottin, P., Chen, E., Chen, H. Y., Cheng, Y., Chincarini, C., Chiummo, A., Cho, A., Cho, H. S., Chow, M., Christensen, J. H., Chu, N., Chua, Q., Chung, S., Ciani, S., Clara, G., Clark, F., Clark, J. A., Cleva, M., Coccia, F., Cohadon, E., Colla, P. F., Collette, A., Cominsky, C. G., Constancio, L., Conte, M., Conti, A., Cook, L., Corbitt, D., Cornish, T. R., Corsi, N., Cortese, A., Costa, S., Coughlin, C. A., Coughlin, M. W., Coulon, S. B., Countryman, J. P., Couvares, S. T., Cowan, P., Coward, E. E., Cowart, D. M., Coyne, M. J., Coyne, D. C., Craig, R., Creighton, K., Cripe, J. D. E., Crowder, J., Cumming, S. G., Cunningham, A., Cuoco, L., Dal Canton, E., Danilishin, T., D'Antonio, S. L., Danzmann, S., Darman, K., Dattilo, N. S., Dave, V., Daveloza, I., Davier, H. P., Davies, M., Daw, G. S., Day, E. J., Debra, R., Debreczeni, D., Degallaix, G., De Laurentis, J., Deléglise, M., Del Pozzo, S., Denker, W., Dent, T., Dereli, T., Dergachev, H., Derosa, V., De Rosa, R. T., Desalvo, R., Dhurandhar, R., Díaz, S., Di Fiore, M. C., Di Giovanni, L., Di Lieto, M., Di Pace, A., Di Palma, S., Di Virgilio, I., Dojcinoski, A., Dolique, G., Donovan, V., Dooley, F., Doravari, K. L., Douglas, S., Downes, R., Drago, T. P., Drever, M., Driggers, R. W. P., J. C., Du, Ducrot, Z., Dwyer, M., Edo, S. E., Edwards, T. B., Effler, M. C., Eggenstein, A., Ehrens, H. B., Eichholz, P., Eikenberry, J., Engels, S. S., Essick, W., Etzel, R. C., Evans, T., Evans, M., Everett, T. M., Factourovich, R., Fafone, M., Fair, V., Fairhurst, H., Fan, S., Fang, X., Farinon, Q., Farr, S., Farr, B., Favata, W. M., Fays, M., Fehrmann, M., Fejer, H., Ferrante, M. M., Ferreira, I., Ferrini, E. C., Fidecaro, F., Fiori, F., Fiorucci, I., Fisher, D., Flaminio, R. P., Fletcher, R., Fournier, M., Franco, J. D., Frasca, S., Frasconi, S., Frei, F., Freise, Z., Frey, A., Frey, R., Fricke, V., Fritschel, T. T., Frolov, P., Fulda, V. V., Fyffe, P., Gabbard, M., Gair, H. A. G., And, J. R., Gammaitoni, Luca, Gaonkar, And, Garufi, S. G., Gatto, F., Gaur, A., Gehrels, G., Gemme, N., Gendre, G., Genin, B., Gennai, E., George, A., Gergely, J., Germain, L., Ghosh, V., Ghosh, A., Giaime, S., Giardina, J. A., Giazotto, K. D., Gill, A., Glaefke, K., Goetz, A., Goetz, E., Gondan, R., González, L., Gonzalez Castro, G., Gopakumar, J. M., Gordon, A., Gorodetsky, N. A., Gossan, M. L., Gosselin, S. E., Gouaty, M., Graef, R., Graff, C., Granata, P. B., Grant, M., Gras, A., Gray, S., Greco, C., Green, G., Groot, A. C., Grote, P., Grunewald, H., Guidi, S., Guo, G. M., Gupta, X., Gupta, A., Gushwa, M. K., Gustafson, K. E., Gustafson, E. K., Haas, R., Hacker, R., Hall, J. J., Hall, B. R., Hammond, E. D., Haney, G., Hanke, M., Hanks, M. M., Hanna, J., Hannam, C., Hanson, M. D., Hardwick, J., Harms, T., Harry, J., Harry, G. M., Hart, I. W., Hartman, M. J., Haster, M. T., Haughian, C. J., Healy, K., Heidmann, J., Heintze, A., Heitmann, M. C., Hello, H., Hemming, P., Hendry, G., Heng, M., Hennig, I. S., Heptonstall, J., Heurs, A. W., Hild, M., Hinder, S., Hoak, I., Hodge, D., Hofman, K. A., Hollitt, D., Holt, S. E., Holz, K., Hopkins, D. E., Hosken, P., Hough, D. J., Houston, J., Howell, E. A., E. J., Hu, Huang, Y. M., Huerta, S., Huet, E. A., Hughey, D., Husa, B., Huttner, S., Huynh Dinh, S. H., Idrisy, T., Indik, A., Ingram, N., Inta, D. R., Isa, R., Isac, H. N., Isi, J. M., Islas, M., Isogai, G., Iyer, T., Izumi, B. R., Jacqmin, K., Jang, T., Jani, H., Jaranowski, K., Jawahar, P., Jiménez Forteza, S., Johnson, F., Jones, W. W., Jones, D. I., Jonker, R., R. J. G., Ju, Haris, L., Kalaghatgi, K., Kalogera, C. V., Kandhasamy, V., Kang, S., Kanner, G., Karki, J. B., Kasprzack, S., Katsavounidis, M., Katzman, E., Kaufer, W., Kaur, S., Kawabe, T., Kawazoe, K., Kéfélian, F., Kehl, F., Keitel, M. S., Kelley, D., Kells, D. B., Kennedy, W., Key, R., Khalaidovski, J. S., Khalili, A., Khan, F. Y., Khan, I., Khan, S., Khazanov, Z., Kijbunchoo, E. A., Kim, N., Kim, C., Kim, J., Kim, K., Kim, N. G., King, Y. M., King, E. J., Kinsey, P. J., Kinzel, M., Kissel, D. L., Kleybolte, J. S., Klimenko, L., Koehlenbeck, S., Kokeyama, S. M., Koley, K., Kondrashov, S., Kontos, V., Korobko, A., Korth, M., Kowalska, W. Z., Kozak, I., Kringel, D. B., Królak, V., Krueger, A., Kuehn, C., Kumar, G., Kuo, P., Kutynia, L., Lackey, A., Laguna, B. D., Landry, P., Lange, M., Lantz, J., Lasky, B., Lazzarini, P. D., Lazzaro, A., Leaci, C., Leavey, P., Lebigot, S., Lee, E. O., Lee, C. H., Lee, H. K., Lee, H. M., Lenon, K., Leonardi, A., Leong, M., Leroy, J. R., Letendre, N., Levin, N., Levine, Y., B. M., Li, Libson, T. G. F., Littenberg, A., Lockerbie, T. B., Logue, N. A., Lombardi, J., Lord, A. L., Lorenzini, J. E., Loriette, M., Lormand, V., Losurdo, M., Lough, G., Lück, J. D., Lundgren, H., Luo, A. P., Lynch, J., Ma, R., Macdonald, Y., Machenschalk, T., Macinnis, B., Macleod, M., Magaña Sandoval, D. M., Magee, F., Mageswaran, R. M., Majorana, M., Maksimovic, E., Malvezzi, I., Man, V., Mandel, N., Mandic, I., Mangano, V., Mansell, V., Manske, G. L., Mantovani, M., Marchesoni, M., Marion, F., Márka, F., Márka, S., Markosyan, Z., Maros, A. S., Martelli, E., Martellini, F., Martin, L., Martin, I. W., Martynov, R. M., Marx, D. V., Mason, J. N., Masserot, K., Massinger, A., Masso Reid, T. J., Matichard, M., Matone, F., Mavalvala, L., Mazumder, N., Mazzolo, N., Mccarthy, G., Mcclelland, R., Mccormick, D. E., Mcguire, S., Mcintyre, S. C., Mciver, G., Mcmanus, J., Mcwilliams, D. J., Meacher, S. T., Meadors, D., Meidam, G. D., Melatos, J., Mendell, A., Mendoza Gandara, G., Mercer, D., Merilh, R. A., Merzougui, E., Meshkov, M., Messenger, S., Messick, C., Meyers, C., Mezzani, P. M., Miao, F., Michel, H., Middleton, C., Mikhailov, H., Milano, E. E., Miller, L., Millhouse, J., Minenkov, M., Ming, Y., Mirshekari, J., Mishra, S., Mitra, C., Mitrofanov, S., Mitselmakher, V. P., Mittleman, G., Moggi, R., Mohan, A., Mohapatra, M., Montani, S. R. P., Moore, M., Moore, B. C., Moraru, C. J., Moreno, D., Morriss, G., Mossavi, S. R., Mours, K., Mow Lowry, B., Mueller, C. M., Mueller, C. L., Muir, G., Mukherjee, A. W., Mukherjee, A., Mukherjee, D., Mukund, S., Mullavey, N., Munch, A., Murphy, J., Murray, D. J., Mytidis, P. G., Nardecchia, A., Naticchioni, I., Nayak, L., Necula, R. K., Nedkova, V., Nelemans, K., Neri, G., Neunzert, M., Newton, A., Nguyen, G., Nielsen, T. T., Nissanke, A. B., Nitz, S., Nocera, A., Nolting, F., Normandin, D., Nuttall, M. E., Oberling, L. K., Ochsner, J., O'Dell, E., Oelker, J., Ogin, E., G. H., Oh, J. J., Oh, Ohme, S. H., Oliver, F., Oppermann, M., Oram, P., O'Reilly, R. J., O'Shaughnessy, B., Ottaway, R., Ottens, D. J., Overmier, R. S., Owen, H., Pai, B. J., Pai, A., Palamos, S. A., Palashov, J. R., Palomba, O., Pal Singh, C., Pan, A., Pankow, H., Pannarale, C., Pant, F., Paoletti, B. C., Paoli, F., Papa, A., Page, M. A., Paris, J., Parker, H. R., Pascucci, W., Pasqualetti, D., Passaquieti, A., Passuello, R., Patricelli, D., Patrick, B., Pearlstone, Z., Pedraza, B. L., Pedurand, M., Pekowsky, R., Pele, L., Penn, A., Perreca, S., Phelps, A., Piccinni, M., Pichot, O., Piergiovanni, M., Pierro, F., Pillant, V., Pinard, G., Pinto, L., Pitkin, I. M., Poggiani, M., Popolizio, R., Post, P., Powell, A., Prasad, J., Predoi, J., Premachandra, V., Prestegard, S. S., Price, T., Prijatelj, L. R., Principe, M., Privitera, M., Prodi, S., Prokhorov, G. A., Puncken, L., And, O., Punturo, Michele, Puppo, And, Pürrer, P., Qi, M., Qin, H., Quetschke, J., Quintero, V., Quitzow James, E. A., Raab, R., Rabeling, F. J., Radkins, D. S., Raffai, H., Raja, P., Rakhmanov, S., Rapagnani, M., Raymond, P., Razzano, V., Re, M., Read, V., Reed, J., Regimbau, C. M., Rei, T., Reid, L., Reitze, S., Rew, D. H., Reyes, H., Ricci, S. D., Riles, F., Robertson, K., Robie, N. A., Robinet, R., Rocchi, F., Rolland, A., Rollins, L., Roma, J. G., Romano, V. J., Romanov, R., Romie, G., Rosińska, J. H., Rowan, D., Rüdiger, S., Ruggi, A., Ryan, P., Sachdev, K., Sadecki, S., Sadeghian, T., Salconi, L., Saleem, L., Salemi, M., Samajdar, F., Sammut, A., Sanchez, L., Sandberg, E. J., Sandeen, V., Sanders, B., Sassolas, J. R., Sathyaprakash, B., Saulson, B. S., Sauter, P. R., Savage, O., Sawadsky, R. L., Schale, A., Schilling, P., Schmidt, R., Schmidt, J., Schnabel, P., Schofield, R., Schönbeck, R. M. S., Schreiber, A., Schuette, E., Schutz, D., Scott, B. F., Scott, J., Sellers, S. M., Sengupta, D., Sentenac, A. S., Sequino, D., Sergeev, V., Serna, A., Setyawati, G., Sevigny, Y., Shaddock, A., Shah, D. A., Shahriar, S., Shaltev, M. S., Shao, M., Shapiro, Z., Shawhan, B., Sheperd, P., Shoemaker, A., Shoemaker, D. H., Siellez, D. M., Siemens, K., Sigg, X., Silva, D., Simakov, A. D., Singer, D., Singer, A., Singh, L. P., Singh, A., Singhal, R., Sintes, A., Slagmolen, A. M., Smith, B. J. J., Smith, J. R., Smith, N. D., Son, R. J. E., Sorazu, E. J., Sorrentino, B., Souradeep, F., Srivastava, T., Staley, A. K., Steinke, A., Steinlechner, M., Steinlechner, J., Steinmeyer, S., Stephens, D., Stone, B. C., Strain, R., Straniero, K. A., Stratta, N., Strauss, G., Strigin, N. A., Sturani, S., Stuver, R., Summerscales, A. L., Sun, T. Z., Sutton, L., Swinkels, P. J., Szczepańczyk, B. L., Tacca, M. J., Talukder, M., Tanner, D., Tápai, D. B., Tarabrin, M., Taracchini, S. P., Taylor, A., Theeg, R., Thirugnanasambandam, T., Thomas, M. P., Thomas, E. G., Thomas, M., Thorne, P., Thorne, K. A., Thrane, K. S., Tiwari, E., Tiwari, S., Tokmakov, V., Tomlinson, K. V., Tonelli, C., Torres, M., Torrie, C. V., Töyrä, C. I., And, D., Travasso, Flavio, Traylor, And, Trifirò, G., Tringali, D., Trozzo, M. C., Tse, L., Turconi, M., Tuyenbayev, M., Ugolini, D., Unnikrishnan, D., Urban, C. S., Usman, A. L., Vahlbruch, S. A., Vajente, H., Valdes, G., Van Bakel, G., Van Beuzekom, N., Van Den Brand, M., Van Den Broeck, J. F. J., Vander Hyde, C., Van Der Schaaf, D. C., Van Heijningen, L., Van Veggel, J. V., Vardaro, A. A., Vass, M., Vasúth, S., Vaulin, M., Vecchio, R., Vedovato, A., Veitch, G., Veitch, J., Venkateswara, P. J., Verkindt, K., Vetrano, D., Viceré, F., Vinciguerra, A., Vine, S., Vinet, D. J., Vitale, J. Y., Vo, S., And, T., Vocca, Helios, Vorvick, And, Voss, C., Vousden, D., Vyatchanin, W. D., Wade, S. P., Wade, A. R., Wade, L. E., Walker, M., Wallace, M., Walsh, L., Wang, S., Wang, G., Wang, H., Wang, M., Wang, X., Ward, Y., Warner, R. L., Was, J., Weaver, M., Wei, B., Weinert, L. W., Weinstein, M., Weiss, A. J., Welborn, R., Wen, T., Weßels, L., Westphal, P., Wette, T., Whelan, K., White, J. T., Whiting, D. J., Williams, B. F., Williams, D., Williamson, R. D., Willis, A. R., Willke, J. L., Wimmer, B., Winkler, M. H., Wipf, W., Wittel, C. C., Woan, H., Worden, G., Wright, J., J. L., Wu, Yablon, G., Yam, J., Yamamoto, W., Yancey, H., Yap, C. C., M. J., Yu, Yvert, H., Zadrozny, M., Zangrando, A., Zanolin, L., Zendri, M., Zevin, J. P., Zhang, M., Zhang, F., Zhang, L., Zhao, Y., Zhou, C., Zhou, M., Zhu, Z., Zucker, X. J., Zuraw, M. E., Zweizig, S. E., The LIGO Scientific Collaboration, The Virgo Collaboration, Institut Lumière Matière [Villeurbanne] ( ILM ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique ( CNRS ), Laboratoire des matériaux avancés ( LMA ), Université de Lyon-Université de Lyon-Institut National de Physique Nucléaire et de Physique des Particules du CNRS ( IN2P3 ) -Centre National de la Recherche Scientifique ( CNRS ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratoire d'Annecy de Physique des Particules ( LAPP/Laboratoire d'Annecy-le-Vieux de Physique des Particules ), Institut National de Physique Nucléaire et de Physique des Particules du CNRS ( IN2P3 ) -Université Savoie Mont Blanc ( USMB [Université de Savoie] [Université de Chambéry] ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratoire de l'Accélérateur Linéaire ( LAL ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut National de Physique Nucléaire et de Physique des Particules du CNRS ( IN2P3 ) -Centre National de la Recherche Scientifique ( CNRS ), Astrophysique Relativiste Théories Expériences Métrologie Instrumentation Signaux ( ARTEMIS ), Université Nice Sophia Antipolis ( UNS ), Université Côte d'Azur ( UCA ) -Université Côte d'Azur ( UCA ) -Institut national des sciences de l'Univers ( INSU - CNRS ) -Observatoire de la Côte d'Azur, Université Côte d'Azur ( UCA ) -Centre National de la Recherche Scientifique ( CNRS ), Institut de Physique de Rennes ( IPR ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Centre National de la Recherche Scientifique ( CNRS ), LIGO, VIRGO, (Astro)-Particles Physics, Institut Lumière Matière [Villeurbanne] (ILM), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Laboratoire des matériaux avancés (LMA), Université de Lyon-Université de Lyon-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Annecy de Physique des Particules (LAPP), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Centre National de la Recherche Scientifique (CNRS), Laboratoire de l'Accélérateur Linéaire (LAL), Centre National de la Recherche Scientifique (CNRS)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Université Paris-Sud - Paris 11 (UP11), Astrophysique Relativiste Théories Expériences Métrologie Instrumentation Signaux (ARTEMIS), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de la Côte d'Azur, Université Côte d'Azur (UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS), Institut de Physique de Rennes (IPR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS), Science and Engineering Research Board, Canadian Network for Research and Innovation in Machining Technology, Natural Sciences and Engineering Research Council of Canada, Research Corporation for Science Advancement, National Science Foundation, Alfred P. 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Illes Balears, Univ Naples Federico II, NASA, Univ Toronto, Tsinghua Univ, Texas Tech Univ, Penn State Univ, Natl Tsing Hua Univ, Charles Sturt Univ, Univ Chicago, Korea Inst Sci & Technol Informat, Carleton Coll, Univ Roma La Sapienza, Univ Brussel, Sonoma State Univ, Northwestern Univ, Univ Minnesota, Univ Melbourne, Univ Texas Rio Grande, Univ Sheffield, Univ Sannio Benevento, Montclair State Univ, Univ Trento, Trento Inst Fundamental Phys & Applicat, Cardiff Univ, Natl Astron Observ Japan, Univ Edinburgh, Indian Inst Technol, Inst Plasma Res, Univ Szeged, Embry Riddle Aeronaut Univ, Univ Michigan, Amer Univ, Univ Massachusetts, Univ Adelaide, W Virginia Univ, Univ Bialystok, Univ Strathclyde, IISER TVM, Inst Appl Phys, Pusan Natl Univ, Hanyang Univ, IM PAN, Rochester Inst Technol, Monash Univ, Seoul Natl Univ, Univ Alabama, Univ Camerino, Southern Univ, A&M Coll, Coll William & Mary, Universidade Estadual Paulista (Unesp), Univ Cambridge, IISER Kolkata, Rutherford Appleton Lab, Whitman Coll, Natl Inst Math Sci, Hobart & William Smith Coll, Univ Zielona Gora, Andrews Univ, Univ Siena, Trinity Univ, Univ Washington, Kenyon Coll, Abilene Christian Univ, Abbott, B. .p., Abbott, T. .d., Abernathy, M. .r., Adhikari, R. .x., Adya, V. .b., Aguiar, O. .d., Altin, P. .a., Anderson, S. .b., Anderson, W. .g., Araya, M. .c., Arceneaux, C. .c., Areeda, J. .s., Arun, K. .g., Aston, S. .m., Bader, M. .k. .m., Baker, P. .t., Ballmer, S. .w., Barayoga, J. .c., Barclay, S. .e., Barish, B. .c., Batch, J. .c., Bell, A. .s., Bell, C. .j., Berger, B. .k., Berry, C. .p. .l., Bilenko, I. .a., Bizouard, M. .a., Blackburn, J. .k., Blair, C. .d., Blair, D. .g., Blair, R. .m., Bodiya, T. .p., Boom, B. .a., Brady, P. .r., Braginsky, V. .b., BRANCHESI, MARICA, Brau, J. .e., Brooks, A. .f., Brown, D. .a., Brown, D. .d., Brown, N. .m., Buchanan, C. .c., Bulten, H. .j., Byer, R. .l., Calloni, E., Camp, J. .b., Cannon, K. .c., Capano, C. .d., Cepeda, C. .b., CERBONI BAIARDI, LORENZO, Chamberlin, S. .j., Chen, H. .y., Cho, H. .s., Chow, J. .h., Clark, J. .a., Collette, C. .g., Corbitt, T. .r., Costa, C. .a., Coughlin, M. .w., Coughlin, S. .b., Countryman, S. .t., Cowan, E. .e., Coward, D. .m., Cowart, M. .j., Coyne, D. .c., Creighton, J. .d. .e., Crowder, S. .g., Danilishin, S. .l., D’Antonio, S., Darman, N. .s., Daveloza, H. .p., Davies, G. .s., Daw, E. .j., De Laurentis, M., Derosa, R. .t., De Rosa, R., Díaz, M. .c., Dooley, K. .l., Downes, T. .p., Drever, R. .w. .p., Driggers, J. .c., Dwyer, S. .e., Edo, T. .b., Edwards, M. .c., Eikenberry, S. .s., Essick, R. .c., Evans, T. .m., Farr, W. .m., Fejer, M. .m., Ferreira, E. .c., Fisher, R. .p., Fricke, T. .t., Frolov, V. .v., Gabbard, H. .a. .g., Gair, J. .r., Gaonkar, S. .g., Garufi, F., Giaime, J. .a., Giardina, K. .d., Gonzalez Castro, J. .m., Gordon, N. .a., Gorodetsky, M. .l., Gossan, S. .e., Graff, P. .b., GRECO, GIUSEPPE, Green, A. .c., GUIDI, GIANLUCA MARIA, Gupta, M. .k., Gushwa, K. .e., Gustafson, E. .k., Hacker, J. .j., Hall, B. .r., Hall, E. .d., Hanke, M. .m., Hannam, M. .d., HARMS, JAN, Harry, G. .m., Harry, I. .w., Hart, M. .j., Hartman, M. .t., Heintze, M. .c., Heng, I. .s., Heptonstall, A. .w., Hodge, K. .a., Hollitt, S. .e., Holz, D. .e., Hosken, D. .j., Houston, E. .a., Howell, E. .j., Hu, Y. .m., Huerta, E. .a., Huttner, S. .h., Ingram, D. .r., Isa, H. .n., Iyer, B. .r., Johnson, W. .w., Jones, D. .i., Jonker, R. .j. .g., Kalaghatgi, C. .v., Kanner, J. .b., Kehl, M. .s., Kelley, D. .b., Key, J. .s., Khalili, F. .y., Khazanov, E. .a., King, E. .j., King, P. .j., Kinzel, D. .l., Kissel, J. .s., Koehlenbeck, S. .m., Korth, W. .z., Kozak, D. .b., Lackey, B. .d., Lasky, P. .d., Lebigot, E. .o., Lee, C. .h., Lee, H. .k., Lee, H. .m., Leong, J. .r., Levine, B. .m., Li, T. .g. .f., Littenberg, T. .b., Lockerbie, N. .a., Lombardi, A. .l., Lord, J. .e., Lough, J. .d., Lundgren, A. .p., Macleod, D. .m., Magee, R. .m., Mansell, G. .l., Markosyan, A. .s., MARTELLI, FILIPPO, Martin, I. .w., Martin, R. .m., Martynov, D. .v., Marx, J. .n., Massinger, T. .j., Mcclelland, D. .e., Mcguire, S. .c., Mcmanus, D. .j., Mcwilliams, S. .t., Meadors, G. .d., Mercer, R. .a., Meyers, P. .m., Mikhailov, E. .e., Milano, L., Mitrofanov, V. .p., Mohapatra, S. .r. .p., MONTANI, MATTEO, Moore, B. .c., Moore, C. .j., Morriss, S. .r., Mow Lowry, C. .m., Mueller, C. .l., Muir, A. .w., Murphy, D. .j., Murray, P. .g., Nayak, R. .k., Nguyen, T. .t., Nielsen, A. .b., Normandin, M. .e., Nuttall, L. .k., O’Dell, J., Ogin, G. .h., Oh, J. .j., Oh, S. .h., O’Reilly, B., O’Shaughnessy, R., Ottaway, D. .j., Ottens, R. .s., Owen, B. .j., Pai, S. .a., Palamos, J. .r., Pant, B. .c., Papa, M. .a., Paris, H. .r., Pearlstone, B. .l., PIERGIOVANNI, FRANCESCO, Pinto, I. .m., Premachandra, S. .s., Price, L. .r., Prodi, G. .a., Quintero, E. .a., Raab, F. .j., Rabeling, D. .s., Reed, C. .m., Reitze, D. .h., Reyes, S. .d., Robertson, N. .a., Rollins, J. .g., Roma, V. .j., Romie, J. .h., Sanchez, E. .j., Sanders, J. .r., Sathyaprakash, B. .s., Saulson, P. .r., Savage, R. .l., Schofield, R. .m. .s., Schutz, B. .f., Scott, S. .m., Sengupta, A. .s., Shaddock, D. .a., Shahriar, M. .s., Shoemaker, D. .h., Shoemaker, D. .m., Silva, A. .d., Singer, L. .p., Sintes, A. .m., Slagmolen, B. .j. .j., Smith, J. .r., Smith, N. .d., Smith, R. .j. .e., Son, E. .j., Srivastava, A. .k., Stephens, B. .c., Strain, K. .a., STRATTA, MARIA GIULIANA, Strauss, N. .a., Stuver, A. .l., Summerscales, T. .z., Sutton, P. .j., Swinkels, B. .l., Szczepańczyk, M. .j., Tanner, D. .b., Tarabrin, S. .p., Thirugnanasambandam, M. .p., Thomas, E. .g., Thorne, K. .a., Thorne, K. .s., Tokmakov, K. .v., Torres, C. .v., Torrie, C. .i., Tringali, M. .c., Unnikrishnan, C. .s., Urban, A. .l., Usman, S. .a., van Bakel, N., van Beuzekom, M., van den Brand, J. .f. .j., Vander Hyde, D. .c., van der Schaaf, L., van Heijningen, J. .v., van Veggel, A. .a., Veitch, P. .j., VETRANO, FLAVIO, VICERE', ANDREA, Vine, D. .j., Vousden, W. .d., Vyatchanin, S. .p., Wade, A. .r., Wade, L. .e., Ward, R. .l., Weinstein, A. .j., Whelan, J. .t., White, D. .j., Whiting, B. .f., Williams, R. .d., Williamson, A. .r., Willis, J. .l., Wimmer, M. .h., Wipf, C. .c., Wright, J. .l., Yancey, C. .c., Yap, M. .j., Zadrożny, A., Zhu, X. .j., Zucker, M. .e., and Zuraw, S. .e.

Subjects
[PHYS.ASTR.HE]Physics [physics]/Astrophysics [astro-ph]/High Energy Astrophysical Phenomena [astro-ph.HE], Nuclear and High Energy Physics, [PHYS.ASTR.IM]Physics [physics]/Astrophysics [astro-ph]/Instrumentation and Methods for Astrophysic [astro-ph.IM], Astronomy, Astrophysics::High Energy Astrophysical Phenomena, Binary number, GW150914, FOS: Physical sciences, ADVANCED LIGO, Astrophysics, General Relativity and Quantum Cosmology (gr-qc), Astrophysics::Cosmology and Extragalactic Astrophysics, 01 natural sciences, Signal, General Relativity and Quantum Cosmology, GW150914, cWB search, [ PHYS.GRQC ] Physics [physics]/General Relativity and Quantum Cosmology [gr-qc], cWB search, Settore FIS/05 - Astronomia e Astrofisica, 0103 physical sciences, Chirp, Waveform, 010306 general physics, Instrumentation and Methods for Astrophysics (astro-ph.IM), QC, QB, Physics, High Energy Astrophysical Phenomena (astro-ph.HE), 010308 nuclear & particles physics, Estimation theory, Gravitational wave, Settore FIS/01 - Fisica Sperimentale, Detector, [ PHYS.ASTR.HE ] Physics [physics]/Astrophysics [astro-ph]/High Energy Astrophysical Phenomena [astro-ph.HE], LIGO, Physics and Astronomy, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, [PHYS.GRQC]Physics [physics]/General Relativity and Quantum Cosmology [gr-qc], [ PHYS.ASTR.IM ] Physics [physics]/Astrophysics [astro-ph]/Instrumentation and Methods for Astrophysic [astro-ph.IM], Astrophysics - High Energy Astrophysical Phenomena, Astrophysics - Instrumentation and Methods for Astrophysics
Abstract

The gravitational-wave signal GW150914 was first identified on Sept 14 2015 by searches for short-duration gravitational-wave transients. These searches identify time-correlated transients in multiple detectors with minimal assumptions aboutthe signal morphology, allowing them to be sensitive to gravitational waves emitted by a wide range of sources including binary black-hole mergers. Over the observational period from September 12th to October 20th 2015, these transient searches were sensitive to binary black-hole mergers similar to GW150914 to an average distance of $\sim 600$ Mpc. In this paper, we describe the analyses that first detected GW150914 as well as the parameter estimation and waveform reconstruction techniques that initially identified GW150914 as the merger of two black holes. We find that the reconstructed waveform is consistent with the signal from a binary black-hole merger with a chirp mass of $\sim 30 \, M_\odot$ and a total mass before merger of $\sim 70 \, M_\odot$ in the detector frame., Comment: 20 pages, 12 figures, https://dcc.ligo.org/LIGO-P1500229/public

Published
2016
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23. Breast cancer 'tailored follow-up' in Italian oncology units: a web-based survey

Author

Natoli, C., Brocco, D., Sperduti, I., Nuzzo, A., Tinari, N., De Tursi, M., Grassadonia, A., Mazzilli, L., Iacobelli, S., Gamucci, T., Vici, P., Study, Group, Adamo, V., Airoldi, M., Amoroso, D., Angelini, F., Angiolini, C., Angiolucci, G., Ardizzoia, A., Baldini, E., Ballardini, P., Barni, S., Barone, C., Battelli, N., Bernardi, D., Bianchetti, S., Bianco, N., Biglia, Nicoletta, Bilancia, D., Biti, G., Boni, C., Bordonaro, R., Botta, M., Bretti, S., Brunello, A., Brunetti, C., Bruno, D., Bucci, E., Buzzoni, R., Cagossi, K., Cappelletti, C., Cappuzzo, F., Cardillo, F., Carroccio, R., Cascinu, S., Cavanna, L., Cianchetti, E., Clerico, M., Contu, A., Corsi, D., Cortesi, L., Cretella, E., Crispino, S., Di Lieto, M., Di Lullo, L., Durini, E., Fabi, A., Failla, G., Fattorusso, S., Ferraù, F., Ferro, A., Ficorella, C., Fogazzi, G., Foglietta, J., Francini, G., Fusco, O., Gennari, A., Ghiani, M., Gianni, L., Giordano, M., Giotta, F., Giuliani, R., Gori, S., Graiff, C., Guarneri, V., Guarneri, D., Guglielmi, F., Landriscina, M., Laudadio, L., Lombardo, M., Longo, F., Macellari, G., Madeddu, C., Magnanini, S., Maiorino, L., Mangiameli, A., Marini, G., Massidda, B., Mattioli, R., Michelotti, A., Molino, A., Montesarchio, V., Morale, A., Murgo, R., Naso, G., Natale, D., Orditura, M., Orrù, S., Pace, R., Palazzo, A., Palma, F., Pancotti, A., Pandoli, G., Papaldo, P., Parisi, A. M., Passalacqua, R., Pellegrino, A., Perrucci, B., Proietti, E., Recchia, F., Riccardi, F., Rispoli, A. I., Rocca, A., Romaniello, I., Rossetti, R., Rossi, D., Rosti, G., Ruggeri, E. M., Russo, A., Savarino, A., Savastano, C., Scognamiglio, G., Scognamiglio, M., Seminara, P., Serrachini, S., Sidoti, V., Silva, R. R., Surace, G., Tomao, S., Tonini, G., Trenta, P., Turazza, M., Valenza, R., Veltri, E., Zampa, G., Zaniboni, A., Zanirato, S., C, Natoli, D, Brocco, I, Sperduti, A, Nuzzo, N, Tinari, M, De Tursi, A, Grassadonia, L, Mazzilli, S, Iacobelli, T, Gamucci, P, Vici, Study Group, 'FOLLOW-UP', and Orditura, Michele

Subjects
Oncology, breast cancer, Follow-up, survey, Medical Oncology, law.invention, Randomized controlled trial, law, Aged, Breast Neoplasms, Female, Follow-Up Studies, Health Care Surveys, Humans, Italy, Middle Aged, Secondary Prevention, Guideline Adherence, Breast Tumors, Medicine and Health Sciences, Web based survey, Multidisciplinary, Pharmaceutics, Surgical Oncology, Cancer Therapy, Medicine, medicine.symptom, Disease staging, Research Article, medicine.medical_specialty, Adjuvant Cancer Chemotherapy, Science, MEDLINE, Asymptomatic, Breast cancer, Drug Therapy, Internal medicine, medicine, Cancer Detection and Diagnosis, Chemotherapy, Modalities, business.industry, Cancers and Neoplasms, medicine.disease, Blood chemistry, Women's Health, Clinical Medicine, business
Abstract

PurposeBreast cancer follow-up procedures after primary treatment are still a controversial issue. Aim of this study was to investigate, through a web-based survey, surveillance methodologies selected by Italian oncologists in everyday clinical practice.MethodsReferents of Italian medical oncology units were invited to participate to the study via e-mail through the SurveyMonkey website. Participants were asked how, in their institution, exams of disease staging and follow-up are planned in asymptomatic women and if surveillance continues beyond the 5th year.ResultsBetween February and May 2013, 125 out of 233 (53.6%) invited referents of Italian medical oncology units agreed to participate in the survey. Ninety-seven (77.6%) referents state that modalities of breast cancer follow-up are planned according to the risk of disease progression at diagnosis and only 12 (9.6%) oncology units apply the minimal follow-up procedures according to international guidelines. Minimal follow-up is never applied in high risk asymptomatic women. Ninety-eight (78.4%) oncology units continue follow-up in all patients beyond 5 years.ConclusionsOur survey shows that 90.4% of participating Italian oncology units declare they do not apply the minimal breast cancer follow-up procedures after primary treatment in asymptomatic women, as suggested by national and international guidelines. Interestingly, about 80.0% of interviewed referents performs the so called "tailored follow-up", high intensity for high risk, low intensity for low risk patients. There is an urgent need of randomized clinical trials able to determine the effectiveness of risk-based follow-up modalities, their ideal frequency and persistence in time.

Published
2014

24. Breast cancer 'tailored follow-up' in Italian oncology units: a web-based survey

Author

Natoli, C, Adamo, V, Airoldi, M, Amoroso, D, Angelini, F, Angiolini, C, Angiolucci, G, Ardizzoia, A, Baldini, E, Ballardini, P, Barni, S, Barone, C, Battelli, N, Bernardi, D, Bianchetti, S, Bianco, N, Biglia, N, Bilancia, D, Biti, G, Boni, C, Bordonaro, R, Botta, M, Bretti, S, Brunello, A, Brunetti, C, Bruno, D, Bucci, E, Buzzoni, R, Cagossi, K, Cappelletti, C, Cappuzzo, F, Cardillo, F, Carroccio, R, Cascinu, S, Cavanna, L, Cianchetti, E, Clerico, M, Contu, A, Corsi, D, Cortesi, L, Cretella, E, Crispino, S, Di Lieto, M, Di Lullo, L, Durini, E, Fabi, A, Failla, G, Fattorusso, S, Ferraù, F, Ferro, A, Ficorella, C, Fogazzi, G, Foglietta, J, Francini, G, Fusco, O, Gennari, A, Ghiani, M, Gianni, L, Giordano, M, Giotta, F, Giuliani, R, Gori, S, Graiff, C, Guarneri, V, Guarneri, D, Guglielmi, F, Landriscina, M, Laudadio, L, Lombardo, M, Longo, F, Macellari, G, Madeddu, C, Magnanini, S, Maiorino, L, Mangiameli, A, Marini, G, Massidda, B, Mattioli, R, Michelotti, A, Molino, A, Montesarchio, V, Morale, A, Murgo, R, Naso, Giuseppe, Natale, D, Orditura, M, Orrù, S, Pace, R, Palazzo, Antonella, Palma, F, Pancotti, A, Pandoli, G, Papaldo, P, Parisi, Am, Passalacqua, R, Pellegrino, A, Perrucci, B, Proietti, E, Recchia, F, Riccardi, F, Rispoli, Ai, Rocca, A, Romaniello, I, Rossetti, R, Rossi, D, Rosti, G, Ruggeri, Em, Russo, A, Savarino, A, Savastano, C, Scognamiglio, G, Scognamiglio, M, Seminara, Patrizia, Serrachini, S, Sidoti, V, Silva, Rr, Surace, G, Tomao, Silverio, Tonini, G, Trenta, P, Turazza, M, Valenza, R, Veltri, E, Zampa, G, Zaniboni, A, and Zanirato, S.

Published
2014

30. Raccomandazioni cliniche per i principali tumori solidi

Author

Allegrini, G., Amoroso, D., Angioli, D., Arcangeli, Annarosa, Bechi, Paolo, Biti, G., Calvaruso, V., Celona, G., Di Giorgi, U., Di Lieto, M., Fabbrucci, P., Fiorentini, G., Franceschini, F., Fucini, Claudio, Galardi, A., Gasperoni, S., Genuardi, M., Goletti, O., Grazzini, G., Janni, A., Lazzi, S., Manetti, A., Mantellini, P., Masi, A., Mazza, E., Medi, F., Messerini, L., Mignogna, M., Mini, E., Moretti, R., Morettini, A., Mosca, F., Naspetti, R., Paci, E. £., Pinto, E., Ponticelli, P., Pirtoli, L., Piliti, M., Ribecco, A. S., Sainato, A., Sarnelli, R., Seccia, M., Tagliagambe, A., Tanzini, G., Tonelli, F., Valanzano, R., Valeri, A., and Venturini, G.

Subjects
raccomandazioni cliniche, tumori solidi
Published
2005

38. Polymorphisms interaction to predict bevacizumab (BV) efficacy in metastatic breast cancer (MBC) patients: an exploratory retrospective analysis

Author

Allegrini, G., Guido Bocci, Fontana, A., Goletti, O., Camerini, A., Galligioni, E., Ferro, A., Giuntini, N., Casadei, V., Cazzaniga, M., Fiorentini, G., Di Lieto, M., Marcucci, L., Pazzagli, I., Coltelli, L., Lucchesi, S., Finale, C., Bona, E., Scalese, M., Orlandi, P., Villa, F., Morini, S., Amoroso, D., Arrighi, G., Filidei, M., Di Pasquale, M., and Alfredo Falcone

42. New <scp> AARS2 </scp> Mutations in Two Siblings With Tremor, Downbeat Nystagmus, and Primary Amenorrhea: A Benign Phenotype Without Leukoencephalopathy

Author

Filippo M. Santorelli, Alessandro Filla, Maria Lieto, Sirio Cocozza, Daniele Galatolo, Giovanna De Michele, Luigi Maione, De Michele, G., Galatolo, D., Lieto, M., Maione, L., Cocozza, S., Santorelli, F. M., and Filla, A.

Subjects
leukoencephalopathy, Pediatrics, medicine.medical_specialty, business.industry, ovarian failure, Ovarian failure, AARS2, Case Reports, medicine.disease, Phenotype, Downbeat nystagmus, Leukoencephalopathy, Neurology, medicine, Neurology (clinical), business, Primary amenorrhea
Published
2020
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43. The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families

Author

M. Lieto, V. Riso, D. Galatolo, G. De Michele, S. Rossi, M. Barghigiani, S. Cocozza, G. Pontillo, R. Trovato, F. Saccà, E. Salvatore, A. Tessa, A. Filla, F. M. Santorelli, G. Silvestri, Lieto, M., Riso, V., Galatolo, D., De Michele, G., Rossi, S., Barghigiani, M., Cocozza, S., Pontillo, G., Trovato, R., Sacca, F., Salvatore, E., Tessa, A., Filla, A., Santorelli, F. M., and Silvestri, G.

Subjects
Adult, Male, Movement disorders, Ubiquitin-Protein Ligases, Gene mutation, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Spinocerebellar Ataxias, chorea, 030212 general & internal medicine, Age of Onset, cerebellar ataxia, CHIP, cognitive impairment, movement disorders, next-generation sequencing, spinocerebellar ataxias 48, STUB1, Aged, Dystonia, Genetics, Cerebellar ataxia, Mood Disorders, business.industry, Parkinsonism, Brain, Chorea, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Settore MED/26 - NEUROLOGIA, Phenotype, Italy, Neurology, Mutation, Spinocerebellar ataxia, Female, Cerebellar atrophy, movement disorder, Neurology (clinical), medicine.symptom, Cognition Disorders, Trinucleotide Repeat Expansion, business, 030217 neurology & neurosurgery
Abstract

Background and purpose Heterozygous mutations in the STUB1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia (SCA) associated with cerebellar cognitive-affective syndrome (CCAS), named SCA48. Methods Molecular screening was performed in a cohort of 235 unrelated patients with adult-onset, autosomal dominant (17) or sporadic (218) cerebellar ataxia, negative for pathological trinucleotide expansions in the common SCAs, FRDA and FXTAS loci, by using targeted multigene panels or whole-exome sequencing. Bioinformatics analyses, detailed neurological phenotyping and family segregation studies corroborated the pathogenicity of the novel STUB1 mutations. Clinico-diagnostic findings were reviewed to define the phenotypic spectrum. Results Eight heterozygous STUB1 mutations were identified, six of which were novel in 11 patients from eight index families, giving an estimated overall frequency of 3.4% (8/235) for SCA48 in our study cohort, rising to 23.5% (4/17) when considering only familial cases. All our SCA48 patients had cerebellar ataxia and dysarthria associated with cerebellar atrophy on brain magnetic resonance imaging; of note, many cases were also associated with parkinsonism, chorea and dystonia. CCAS also occurred frequently, whereas definite signs of pyramidal tract dysfunction and peripheral nervous system involvement were absent. One SCA48 patient presented with hypogonadism, associated with other autoimmune endocrine dysfunctions. Conclusions Our results support SCA48 as a significant cause of adult-onset SCA. Besides CCAS, our SCA48 patients often showed movement disorders and other clinical manifestations previously described in SCAR16, linked to biallelic variants in the same gene, thus suggesting a continuous clinical spectrum and significant overlap amongst recessive and dominantly inherited mutations in STUB1.

Published
2019
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44. Complex neurodevelopmental disorder in a preterm child with unilateral cerebellar hemorrhage

Author

Sara Da Prato, Giovanni Cioni, Maria Chiara Di Lieto, Rosa Pasquariello, Giulia Purpura, Paola B. Paolicelli, Jessica Barsotti, Francesca Tinelli, Eleonora Bonaventura, Bonaventura, E, Purpura, G, Pasquariello, R, Da Prato, S, Di Lieto, M, Barsotti, J, Paolicelli, P, Cioni, G, and Tinelli, F

Subjects
Cerebellum, Sensory processing, medicine.medical_treatment, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, children, Cerebellar Diseases, Developmental and Educational Psychology, medicine, Humans, 0501 psychology and cognitive sciences, unilateral cerebellar hemorrhage, sensory processing, Child, Cerebral Hemorrhage, 05 social sciences, Infant, Newborn, Infant, medicine.disease, neurodevelopmental disorder, Magnetic Resonance Imaging, Neuropsychology and Physiological Psychology, medicine.anatomical_structure, nervous system, Neurodevelopmental Disorders, Cerebellar hemorrhage, Premature Birth, Female, Atrophy, Psychology, Neuroscience, 030217 neurology & neurosurgery, Infant, Premature, 050104 developmental & child psychology
Abstract

Background: Cerebellar hemorrhage (CBH) represents the main form of direct cerebellar injury in preterm infants. Most CBHs occur bilaterally, while isolated unilateral hemorrhages are less frequent and often associated with focal atrophy. Limited and heterogeneous data exist on preterm birth, unilateral CBH and consequent long-term neurodevelopmental and non-motor outcomes. Case report: This is the case of a six-year-old child, born preterm, diagnosed with a complete atrophy of the right cerebellar hemisphere through brain MRI and presenting mild social atypies, visuo-perceptive and pragmatic language impairment, but only minor neurological signs. Discussion: Despite the large extension of the patient's CBH neurological sequelae were mild, likely due to cerebellar plasticity, and only specific deficits in non-motor, behavioral and social skills were shown. Evidence exists on cerebellar contribution to dynamic visual information processing and to perceptual signals detection and prediction, that might explain the presence of non-motor signs.

Published
2021

45. 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

46. Cerebellum and cognition in Friedreich ataxia: a voxel-based morphometry and volumetric MRI study

Author

Arturo Brunetti, Teresa Costabile, Francesco Saccà, Chiara Pane, Alessandro Filla, Leonardo Radice, Sirio Cocozza, Giuseppe Pontillo, Camilla Russo, Maria Lieto, Cocozza, S., Costabile, T., Pontillo, G., Lieto, M., Russo, C., Radice, L., Pane, C., Filla, A., Brunetti, A., and Sacca, F.

Subjects
Adult, Male, Cerebellum, Pathology, medicine.medical_specialty, Ataxia, Adolescent, Neuroimaging, computer.software_genre, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Atrophy, Cognition, Voxel, medicine, Humans, Cognitive Dysfunction, 030212 general & internal medicine, Volumetric MRI, business.industry, Neuropsychology, Voxel-based morphometry, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Lobe, medicine.anatomical_structure, Neurology, Friedreich ataxia, Cerebellar cortex, Space Perception, Visual Perception, Female, Neurology (clinical), medicine.symptom, business, computer, 030217 neurology & neurosurgery
Abstract

Background: Recent studies have suggested the presence of a significant atrophy affecting the cerebellar cortex in Friedreich ataxia (FRDA) patients, an area of the brain long considered to be relatively spared by neurodegenerative phenomena. Cognitive deficits, which occur in FRDA patients, have been associated with cerebellar volume loss in other conditions. The aim of this study was to investigate the correlation between cerebellar volume and cognition in FRDA. Methods: Nineteen FRDA patients and 20 healthy controls (HC) were included in this study and evaluated via a neuropsychological examination. Cerebellar global and lobular volumes were computed using the Spatially Unbiased Infratentorial Toolbox (SUIT). Furthermore, a cerebellar voxel-based morphometry (VBM) analysis was also carried out. Correlations between MRI metrics and clinical data were tested via partial correlation analysis. Results: FRDA patients showed a significant reduction of the total cerebellar volume (p = 0.004), significantly affecting the Lobule IX (p = 0.001). At the VBM analysis, we found a cluster of significant reduced GM density encompassing the entire lobule IX (p = 0.003). When correlations were probed, we found a direct correlation between Lobule IX volume and impaired visuo-spatial functions (r = 0.58, p = 0.02), with a similar correlation that was found between the same altered function and results obtained at the VBM (r = 0.52; p = 0.03). Conclusions: With two different image analysis techniques, we confirmed the presence of cerebellar volume loss in FRDA, mainly affecting the posterior lobe. In particular, Lobule IX atrophy correlated with worse visuo-spatial abilities, further expanding our knowledge about the physiopathology of cognitive impairment in FRDA.

Published
2020

47. Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility

Author

Giuseppe De Michele, Alessandro Filla, Filippo M. Santorelli, Sirio Cocozza, Chiara Pane, Tommasina Fico, Alessandro Roca, Francesco Saccà, Daniele Galatolo, Maria Lieto, Giuseppe Pontillo, Lieto, M., Galatolo, D., Roca, A., Cocozza, S., Pontillo, G., Fico, T., Pane, C., Saccà, Francesco, De Michele, G., Santorelli, F. M., and Filla, A.

Subjects
medicine.medical_specialty, Ataxia, business.industry, media_common.quotation_subject, ataxia, RNF216, Fertility, Chorea, Letters: New Observations, Dermatology, RING Finger Protein, Neurology, medicine, chorea, Neurology (clinical), medicine.symptom, business, media_common, Sign (mathematics)
Published
2019
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48. Longitudinal study of a cohort of MSA-C patients in South Italy: survival and clinical features

Author

Francesco Saccà, Giuseppe De Michele, Marta Bellofatto, Alessandro Filla, Leonilda Bilo, Alessandro Roca, Maria Lieto, Dario Bruzzese, Antonella Antenora, Stefano Barbato, Girolamo Alfieri, Lieto, M., Roca, A., Bruzzese, D., Antenora, A., Alfieri, G., Sacca, F., Bellofatto, M., Bilo, L., Barbato, S., De Michele, G., and Filla, A.

Subjects
Male, medicine.medical_specialty, Longitudinal study, Neurology, Survival, Dermatology, Time to death, Independent walking, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Internal medicine, medicine, Humans, 030212 general & internal medicine, Longitudinal Studies, Time point, Aged, business.industry, General Medicine, Middle Aged, Multiple System Atrophy, medicine.disease, Psychiatry and Mental health, Italy, Median time, Cohort, Disease Progression, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Predictor
Abstract

Sixty-six patients with possible or probable MSA (multiple system atrophy) cerebellar type, personally observed between 2006 and 2018 were retrospectively reviewed. The time point of data collection was January 1, 2019. Forty-nine patients lost independent walking after a median time of 5 years (95% C. I. 4–6). Thirty-two patients were confined to wheelchair after a median time of 7 years (95% C. I. 7–8). Twenty-seven patients were deceased after a median time of 9 years (95% C. I. 8–10). A later onset predicted an earlier loss of independent walking (HR 1.07; 95% C.I. 1.03–1.11; p = 0.001). Higher UMSARS score predicted shorter time to loss of independent walking (HR 1.04; 95% C.I. 1.02–1.06; p = 0.001) and to wheelchair (HR 1.03; 95% C.I. 1.01–1.06; p = 0.021). No predictor of time to death was found.

Published
2019

49. Degenerative and acquired sporadic adult onset ataxia

Author

Marta Bellofatto, Giuseppe De Michele, Giovanna De Michele, Alessandro Filla, Tommasina Fico, Filippo M. Santorelli, Francesco Saccà, Alessandro Roca, Maria Lieto, Lieto, M., Roca, A., Santorelli, F. M., Fico, Tommasina, De Michele, G., Bellofatto, Marta, Sacca, F., and Filla, A.

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Ataxia, Neurology, Neurological examination, Dermatology, 03 medical and health sciences, 0302 clinical medicine, Atrophy, medicine, Cerebellar Degeneration, Spinocerebellar ataxia type 6, Humans, Vitamin deficiency, 030212 general & internal medicine, Paraneoplastic, Sporadic ataxia, medicine.diagnostic_test, Cerebellar ataxia, business.industry, Multiple system atrophy, General Medicine, Toxic, medicine.disease, Psychiatry and Mental health, Etiology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

The diagnosis of sporadic adult onset ataxia is a challenging task since a large collection of hereditary and non-hereditary disorders should be taken into consideration. Sporadic adult onset ataxias include degenerative non-hereditary, hereditary, and acquired ataxias. Multiple system atrophy and idiopathic late cerebellar ataxia are degenerative non-hereditary ataxias. Late-onset Friedreich's ataxia, spinocerebellar ataxia type 6 and 2, and fragile X-associated tremor/ataxia syndrome account for most sporadic hereditary ataxias. Alcoholic cerebellar degeneration, paraneoplastic and other autoimmune cerebellar degeneration, vitamin deficiencies, and toxic-induced and infectious cerebellar syndrome are the main causes of acquired cerebellar degeneration. The diagnostic approach should include a history taking, disease progression, general and neurological examination, brain MRI, and laboratory and genetic tests. Novel opportunities in massive gene sequencing will increase the likelihood to define true etiologies.

Published
2019

50. Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families

Author

Giuseppe De Michele, Sabina Pappatà, Sirio Cocozza, Elena Salvatore, Jacopo Baldacci, Maria Lieto, Alessandro Filla, Giovanna De Michele, Alessandra Tessa, Melissa Barghigiani, Daniele Galatolo, Filippo M. Santorelli, De Michele, G., Lieto, M., Galatolo, D., Salvatore, E., Cocozza, S., Barghigiani, M., Tessa, A., Baldacci, J., Pappata, S., Filla, A., and Santorelli, F. M.

Subjects
0301 basic medicine, Adult, Male, Cerebellum, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Ubiquitin-Protein Ligases, HD-Like, 03 medical and health sciences, 0302 clinical medicine, Basal Ganglia Diseases, SCA48, medicine, Humans, Spinocerebellar Ataxias, Dominant, Exome sequencing, Aged, Genetics, Dystonia, business.industry, CHIP, Mental Disorders, Chorea, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Pedigree, 030104 developmental biology, medicine.anatomical_structure, Neurology, Cerebellar cognitive affective syndrome, Italy, Spinocerebellar ataxia, Cerebellar atrophy, Female, Neurology (clinical), Geriatrics and Gerontology, medicine.symptom, business, Cognition Disorders, STUB1, 030217 neurology & neurosurgery
Abstract

Introduction Spinocerebellar ataxia 48 has recently been described as an adult onset ataxia associated with a cerebellar cognitive affective syndrome, caused by a heterozygous mutation in the STUB1 gene. Methods We characterized the clinical and neuroimaging phenotype of eight patients from two autosomal dominant ataxia multigenerational Italian families, in whom we conducted whole exome sequencing, targeted multigene sequencing, and Sanger sequencing studies. Results We describe a complex syndrome characterized by ataxia and cognitive-psychiatric disorder in all cases, variably associated with chorea, parkinsonism, dystonia, urinary symptoms, and epilepsy. MRI showed a significant cerebellar atrophy, coupled to a T2-weighted hyperintensity affecting the dentate nuclei and extending to the middle cerebellar peduncles, whereas FDG-PET studies revealed glucose hypometabolism in cerebellum, striatum, and cerebral cortex. We identified two different novel STUB1 mutations segregating in the two families. One of the two mutations, p.(Gly33Ser), occurs in the TRP domain, whereas p.(Pro228Ser) is located in the ubiquitin ligase region. Discussion We emphasize the similarity of the described clinical picture with that of SCAR16, an autosomal recessive ataxia caused by biallelic mutations in the same gene, and of spinocerebellar ataxia type 17, which is considered the main Huntington's disease-like syndrome. The pathogenesis of the disease and the relationship between SCA48 and SCAR16 remain to be clarified.

Published
2019
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