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1. Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus

Author

Grandis, M., Obici, L., Luigetti, M., Briani, C., Benedicenti, F., Bisogni, G., Canepa, M., Cappelli, F., Danesino, C., Fabrizi, G. M., Fenu, S., Ferrandes, G., Gemelli, C., Manganelli, F., Mazzeo, A., Melchiorri, L., Perfetto, F., Pradotto, L. G., Rimessi, P., Tini, G., Tozza, S., Trevisan, L., Pareyson, D., and Mandich, P.

Published
2020
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2. Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

Author

Cortese, A., Vita, G., Luigetti, M., Russo, M., Bisogni, G., Sabatelli, M., Manganelli, F., Santoro, L., Cavallaro, T., Fabrizi, G. M., Schenone, A., Grandis, M., Gemelli, C., Mauro, A., Pradotto, L. G., Gentile, L., Stancanelli, C., Lozza, A., Perlini, S., Piscosquito, G., Calabrese, D., Mazzeo, A., Obici, L., and Pareyson, D.

Published
2016
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3. An atypical case of sporadic fatal insomnia

Author

Priano, L., Giaccone, G., Mangieri, M., Albani, G., Limido, L., Brioschi, A., Pradotto, L., Orsi, L., Mortara, P., Fociani, P., Mauro, A., and Tagliavini, F.

Subjects
Insomnia -- Research, Insomnia -- Physiological aspects, Prion diseases -- Research, Prion diseases -- Physiological aspects, Health, Psychology and mental health
Published
2009

4. A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy

Author

Brussino, A., Vaula, G., Cagnoli, C., Mauro, A., Pradotto, L., Daniele, D., Di Gregorio, E., Barberis, M., Arduino, C., Squadrone, S., Abete, M.C., Migone, N., Calabrese, O., and Brusco, A.

Subjects
Encephalopathy -- Research, Encephalopathy -- Genetic aspects, Gene mutations -- Research, Gene mutations -- Physiological aspects, Health, Psychology and mental health
Published
2009

5. ATTRv amyloidosis Italian Registry: clinical and epidemiological data

Author

Russo, M., Obici, L., Bartolomei, I., Cappelli, F., Luigetti, Marco, Fenu, S., Cavallaro, T., Chiappini, M. G., Gemelli, C., Pradotto, L. G., Manganelli, F., Leonardi, L., My, F., Sampaolo, S., Briani, C., Gentile, L., Stancanelli, C., Di Buduo, E., Pacciolla, P., Salvi, F., Casagrande, S., Bisogni, G., Calabrese, D., Vanoli, F., Di Iorio, G., Antonini, G., Santoro, L., Mauro, A., Grandis, M., Di Girolamo, M., Fabrizi, G. M., Pareyson, D., Sabatelli, Mario, Perfetto, F., Rapezzi, C., Merlini, G., Mazzeo, A., Vita, G., Luigetti M. (ORCID:0000-0001-7539-505X), Sabatelli M. (ORCID:0000-0001-6635-4985), Russo, M., Obici, L., Bartolomei, I., Cappelli, F., Luigetti, Marco, Fenu, S., Cavallaro, T., Chiappini, M. G., Gemelli, C., Pradotto, L. G., Manganelli, F., Leonardi, L., My, F., Sampaolo, S., Briani, C., Gentile, L., Stancanelli, C., Di Buduo, E., Pacciolla, P., Salvi, F., Casagrande, S., Bisogni, G., Calabrese, D., Vanoli, F., Di Iorio, G., Antonini, G., Santoro, L., Mauro, A., Grandis, M., Di Girolamo, M., Fabrizi, G. M., Pareyson, D., Sabatelli, Mario, Perfetto, F., Rapezzi, C., Merlini, G., Mazzeo, A., Vita, G., Luigetti M. (ORCID:0000-0001-7539-505X), and Sabatelli M. (ORCID:0000-0001-6635-4985)

Abstract

Introduction: ATTRv amyloidosis is worldwide spread with endemic foci in Portugal and Sweden, Japan, Brazil, Maiorca, and Cyprus. A national Registry was developed to characterise the epidemiology and genotype-phenotype correlation of ATTRv amyloidosis in Italy and to allow a better planning of diagnostic and therapeutic services. Methods: Fifteen Italian referral centres for amyloidosis spread all over the country have contributed to the Registry. Results: Four-hundred-forty-seven subjects were enrolled, 187 asymptomatic carriers and 260 affected patients. Thirty-one different mutations were recorded. The seven most represented genetic variants were significantly different in terms of age at onset, clinical features and geographical distribution. National prevalence is 4.33/million with higher values in Southern Italy. Overall symptoms of polyneuropathy were present at disease onset in about half of the patients, symptoms of cardiomyopathy in a quarter of patients, the rest referring carpal tunnel syndrome, dysautonomia or lumbar spinal stenosis. 52.6% of patients were in FAP stage 1, 20.4% in stage 2 and 13.5% in stage 3, while 13.5% patients had no neuropathy, presenting only cardiological symptoms. Conclusions: We presented an epidemiological study based on collaboration among referral centres for ATTRv amyloidosis spread in all the Italian territory, using web-based Registry. It provided a detailed map of the regional distribution of the disease. The increased awareness of the disease among general practitioners and medical specialists has contributed to reduce the diagnostic delay and the rate of misdiagnosis. The Registry will allow to collect also future information about clinical and instrumental follow-up.

Published
2020

6. Erratum to: Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

Author

Cortese, A., Vita, G., Luigetti, M., Russo, M., Bisogni, G., Sabatelli, M., Manganelli, F., Santoro, L., Cavallaro, T., Fabrizi, G. M., Schenone, A., Grandis, M., Gemelli, C., Mauro, A., Pradotto, L. G., Gentile, L., Stancanelli, C., Lozza, A., Perlini, S., Piscosquito, G., Calabrese, D., Mazzeo, A., Obici, L., and Pareyson, D.

Published
2016
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7. Early weight loss in amyotrophic lateral sclerosis: Outcome relevance and clinical correlates in a population-based cohort

Author

Moglia, C., Calvo, A., Grassano, M., Canosa, A., Manera, U., D'Ovidio, F., Bombaci, A., Bersano, E., Mazzini, L., Mora, G., Chio, A., Cammarosano, S., Vasta, R., Torrieri, M. C., Solero, L., Clerico, M., De Mercanti, S., Mauro, A., Pradotto, L., De Marchi, F., Sosso, L., Leotta, D., Appendino, L., Imperiale, D., Cavallo, R., Geda, C., Poglio, F., Santimaria, P., Massazza, U., Villani, A., Conti, R., Ruiz, L. C., Palermo, M., Vergnano, F., Rota, E., Penza, M. T., Aguggia, M., Meineri, P., Ghiglione, P., Launaro, N., Astegiano, G., and Corso, G.

Subjects
Male, medicine.medical_specialty, amyotrophic lateral sclerosis, dysphagia, body mass index, Logistic regression, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Weight loss, respiratory function, Internal medicine, medicine, Humans, Respiratory function, Amyotrophic lateral sclerosis, weight loss, 030304 developmental biology, Aged, 0303 health sciences, business.industry, medicine.disease, Dysphagia, Survival Analysis, Clinical trial, Psychiatry and Mental health, Cohort, Disease Progression, Surgery, Female, Neurology (clinical), medicine.symptom, business, Body mass index, 030217 neurology & neurosurgery
Abstract

ObjectivesTo assess the role of body mass index (BMI) and of the rate of weight loss as prognostic factors in amyotrophic lateral sclerosis (ALS) and to explore the clinical correlates of weight loss in the early phases of the disease.MethodsThe study cohort included all ALS patients in Piemonte/Valle d’Aosta in the 2007–2011 period. Overall survival and the probability of death/tracheostomy at 18 months (logistic regression model) were calculated.ResultsOf the 712 patients, 620 (87.1%) were included in the study. Patients ’ survival was related to the mean monthly percentage of weight loss at diagnosis (pConclusionsThe rate of weight loss from onset to diagnosis was found to be a strong and independent prognostic factor in ALS. Weight loss was mainly due to the reduction of nutritional intake related to dysphagia, but a subgroup of spinal onset patients without dysphagia at diagnosis had a severe weight loss and an outcome similar to bulbar patients. According to our findings, we recommend that in clinical trials patients should be stratified according to the presence of dysphagia at the time of enrolment and not by site of onset of symptoms.

Published
2019

8. Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy

Author

Mancini, C., Giorgio, E., Rubegni, A., Pradotto, L., Bagnoli, S., Rubino, E., Prontera, P., Cavalieri, S., Di Gregorio, E., Ferrero, M., Pozzi, E., Riberi, E., Ferrero, P., Nigro, P., Mauro, A., Zibetti, M., Tessa, A., Barghigiani, M., Antenora, A., Sirchia, F., Piacentini, S., Silvestri, Gabriella, De Michele, G., Filla, A., Orsi, L., Santorelli, F. M., Brusco, A., Silvestri, G. (ORCID:0000-0002-1950-1468), Mancini, C., Giorgio, E., Rubegni, A., Pradotto, L., Bagnoli, S., Rubino, E., Prontera, P., Cavalieri, S., Di Gregorio, E., Ferrero, M., Pozzi, E., Riberi, E., Ferrero, P., Nigro, P., Mauro, A., Zibetti, M., Tessa, A., Barghigiani, M., Antenora, A., Sirchia, F., Piacentini, S., Silvestri, Gabriella, De Michele, G., Filla, A., Orsi, L., Santorelli, F. M., Brusco, A., and Silvestri, G. (ORCID:0000-0002-1950-1468)

Abstract

Background and purpose: Hereditary ataxias are heterogeneous groups of neurodegenerative disorders, characterized by cerebellar syndromes associated with dysarthria, oculomotor and corticospinal signs, neuropathy and cognitive impairment. Recent reports have suggested mutations in the SPG7 gene, causing the most common form of autosomal recessive spastic paraplegia (MIM#607259), as a main cause of ataxias. The majority of described patients were homozygotes or compound heterozygotes for the c.1529C>T (p.Ala510Val) change. We screened a cohort of 895 Italian patients with ataxia for p.Ala510Val in order to define the prevalence and genotype–phenotype correlation of this variant. Methods: We set up a rapid assay for c.1529C>T using restriction enzyme analysis after polymerase chain reaction amplification. We confirmed the diagnosis with Sanger sequencing. Results: We identified eight homozygotes and 13 compound heterozygotes, including two novel variants affecting splicing. Mutated patients showed a pure cerebellar ataxia at onset, evolving in mild spastic ataxia (alternatively) associated with dysarthria (~80% of patients), urinary urgency (~30%) and pyramidal signs (~70%). Comparing homozygotes and compound heterozygotes, we noted a difference in age at onset and Scale for the Assessment and Rating of Ataxia score between the two groups, supporting an earlier and more severe phenotype in compound heterozygotes versus homozygotes. Conclusions: The SPG7 c.1529C>T (p.Ala510Val) mutants accounted for 2.3% of cerebellar ataxia cases in Italy, suggesting that this variant should be considered as a priority test in the presence of late-onset pure ataxia. Moreover, the heterozygous/homozygous genotype appeared to predict the onset of clinical manifestation and disease progression.

Published
2019

9. A Multicentric Prospective Incidence Study of Guillain-Barré Syndrome in Italy. The ITANG Study

Author

Benedetti, M, Pugliatti, M, Dalessandro, R, BEGHI, ETTORE, Chiò, A, Logroscino, G, Filippini, G, Galeotti, F, Massari, M, Santuccio, C, Raschetti, R, Abruzzi, L, Agazzi, E, Agostoni, E, Ambrogio, L, Amidei, S, Arbasino, C, Argentiero, V, Arnaboldi, M, Baldini, D, Barki, R, Bassi, P, Basso, F, Belcastro, V, Bellotti, M, Bersano, E, Besana, R, Bettoni, L, Bezzi, G, Bianconi, C, Bondavalli, M, Bonometti, A, Borghi, AM, Borsato, C, Bortolotto, S, Bottacchi, EF, Bresolin, N, Bruno, S, Burlina, A, Cafasso, G, Callegarini, C, Calvo, A, Candeloro, E, Casano, A, Cattaneo, SI, Cavallo, R, Cheldi, A, Ciardo, G, Cirignotta, F, Clerici, AM, Clerici, R, Comi, G, Conti, R, Coppo, F, Covelli, V, Crespi, V, Currò Dossi, M, Curtò, NA, D'Adda, E, Dallocchio, C, D'Anna, S, De Massis, P, De Toni Franceschini, L, Di Vito, N, Didonè, G, Dileone, M, Donati, E, Dotta, M, Fazio, R, Federico, F, FERRARESE, CARLO, Ferrazzini, F, Ferrero, B, Filosto, M, Frasson, E, Fusina, S, Galbussera, A, Gastaldo, E, Geda, C, Ghiglione, P, Giometto, B, Gionco, M, Giorgetti, A, Giussani, G, Gobbin, F, Grampa, G, Granieri, E, Greco, G, Guidetti, D, Guidi, C, Guidotti, M, Gusmaroli, G, Imperiale, D, Internò, S, Jann, S, La Spina, I, Leo, A, Leone, M, Leoni, S, Leotta, D, Lerario, R, Liotta, G, Livrea, P, Luda di Cortemiglio, E, Maggio, B, Magni, E, Magnoni, A, Maistrelli, J, Manca, D, Mandrioli, J, Manera, U, Marcello, N, Marchi, P, Marchini, C, Marconi, S, Mattioli, M, Mauro, A, Mazzaglia, G, Medici, D, Meineri, P, Meola, G, Micaglio, G, Michelucci, R, Michieli, G, Micieli, G, Minardi, C, Moglia, C, Monaco, S, Montanari, E, Moretto, G, Munerati, V, Mura, G, Mussutto, V, Nascimbene, C, Neri, W, Nichelli, P, Nobile Orazio, E, Oddenino, E, Onorato, S, Padovani, A, Palermo, M, Papurello, DM, Passarella, B, Pavesi, G, Penza, MT, Perini, M, Perini, F, Perla, F, Perlotto, N, Perrone, P, Pignatta, P, Pisano, F, Poglio, F, Polo, A, Poloni, M, Porazzi, D, Pradotto, L, Previdi, P, Quatrale, R, Rasi, F, Ravasio, A, Ravetti, C, Repaci, M, Riccardi, T, Riguzzi, P, Rinaldi, R, Riva, M, Romeo, V, Romorini, A, Rosso, T, Rotondo, G, Sacquegna, T, Sanson, F, Santamato, V, Santoro, D, Sartori, V, Sasanelli, F, Savio, K, Serena, M, Silani, V, Silvestri, L, Simioni, V, Squintani, GM, Suardelli, M, Tartagla, L, Terenghi, F, Terlizzi, E, Terzano, M, Tesser, F, Testa, L, Ticca, A, Ticozzi, N, Tiriticco, M, Tola, MR, Tonietti, S, Trianni, G, Trojano, M, Trotta, F, Turatti, M, Ursino, E, Vanotti, A, Vercellino, M, Villani, A, Vitelli, E, Zambito Marsala, S, Zanette, G, Zarcone, D, Zimatore, G, Zoccolella, S., Benedetti, Md, Pugliatti, M, D'Alessandro, R, Beghi, E, Chiò, A, Logroscino, G, Filippini, G, Galeotti, F, Massari, M, Santuccio, C, Comi, Giancarlo, Raschetti, R, ITANG Study, Group, Giometto, B, Benedetti, M, Dalessandro, R, Abruzzi, L, Agazzi, E, Agostoni, E, Ambrogio, L, Amidei, S, Arbasino, C, Argentiero, V, Arnaboldi, M, Baldini, D, Barki, R, Bassi, P, Basso, F, Belcastro, V, Bellotti, M, Bersano, E, Besana, R, Bettoni, L, Bezzi, G, Bianconi, C, Bondavalli, M, Bonometti, A, Borghi, A, Borsato, C, Bortolotto, S, Bottacchi, E, Bresolin, N, Bruno, S, Burlina, A, Cafasso, G, Callegarini, C, Calvo, A, Candeloro, E, Casano, A, Cattaneo, S, Cavallo, R, Cheldi, A, Ciardo, G, Cirignotta, F, Clerici, A, Clerici, R, Comi, G, Conti, R, Coppo, F, Covelli, V, Crespi, V, Currò Dossi, M, Curtò, N, D'Adda, E, Dallocchio, C, D'Anna, S, De Massis, P, De Toni Franceschini, L, Di Vito, N, Didonè, G, Dileone, M, Donati, E, Dotta, M, Fazio, R, Federico, F, Ferrarese, C, Ferrazzini, F, Ferrero, B, Filosto, M, Frasson, E, Fusina, S, Galbussera, A, Gastaldo, E, Geda, C, Ghiglione, P, Gionco, M, Giorgetti, A, Giussani, G, Gobbin, F, Grampa, G, Granieri, E, Greco, G, Guidetti, D, Guidi, C, Guidotti, M, Gusmaroli, G, Imperiale, D, Internò, S, Jann, S, La Spina, I, Leo, A, Leone, M, Leoni, S, Leotta, D, Lerario, R, Liotta, G, Livrea, P, Luda di Cortemiglio, E, Maggio, B, Magni, E, Magnoni, A, Maistrelli, J, Manca, D, Mandrioli, J, Manera, U, Marcello, N, Marchi, P, Marchini, C, Marconi, S, Mattioli, M, Mauro, A, Mazzaglia, G, Medici, D, Meineri, P, Meola, G, Micaglio, G, Michelucci, R, Michieli, G, Micieli, G, Minardi, C, Moglia, C, Monaco, S, Montanari, E, Moretto, G, Munerati, V, Mura, G, Mussutto, V, Nascimbene, C, Neri, W, Nichelli, P, Nobile Orazio, E, Oddenino, E, Onorato, S, Padovani, A, Palermo, M, Papurello, D, Passarella, B, Pavesi, G, Penza, M, Perini, M, Perini, F, Perla, F, Perlotto, N, Perrone, P, Pignatta, P, Pisano, F, Poglio, F, Polo, A, Poloni, M, Porazzi, D, Pradotto, L, Previdi, P, Quatrale, R, Rasi, F, Ravasio, A, Ravetti, C, Repaci, M, Riccardi, T, Riguzzi, P, Rinaldi, R, Riva, M, Romeo, V, Romorini, A, Rosso, T, Rotondo, G, Sacquegna, T, Sanson, F, Santamato, V, Santoro, D, Sartori, V, Sasanelli, F, Savio, K, Serena, M, Silani, V, Silvestri, L, Simioni, V, Squintani, G, Suardelli, M, Tartagla, L, Terenghi, F, Terlizzi, E, Terzano, M, Tesser, F, Testa, L, Ticca, A, Ticozzi, N, Tiriticco, M, Tola, M, Tonietti, S, Trianni, G, Trojano, M, Trotta, F, Turatti, M, Ursino, E, Vanotti, A, Vercellino, M, Villani, A, Vitelli, E, Zambito Marsala, S, Zanette, G, Zarcone, D, Zimatore, G, and Zoccolella, S

Subjects
Adult, Male, Pediatrics, medicine.medical_specialty, Epidemiology, Population, Guillain-Barre Syndrome, Rate ratio, NO, Young Adult, Axonal and demyelinating GBS, Guillain-Barré syndrome, Incidence, Prospective study, Trend, Neurology (clinical), Aged, Aged, 80 and over, Female, Humans, Italy, Middle Aged, 80 and over, medicine, Young adult, education, Prospective cohort study, education.field_of_study, Guillain-Barre syndrome, business.industry, Medicine (all), Incidence (epidemiology), medicine.disease, Vaccination, Settore MED/26 - NEUROLOGIA, business, Human
Abstract

Background: To assess Guillain-Barré syndrome (GBS) incidence we relied on the Italian Network for the study of GBS (ITANG) established in 2010 in 7 Italian regions to analyse the association between influenza vaccination and GBS. Methods: All individuals aged ≥18 years, presenting with clinical manifestations that suggested GBS according to the universally accepted Asbury's diagnostic criteria (1990) were prospectively notified to a centralised database by ITANG neurologists over the period October 1, 2010-September 30, 2011. Through a telephone survey, 9 trained interviewers followed up the cases to diagnosis and then for 1 year since hospital discharge. Validation of case reporting was performed with the support of administrative data in 5 regions. Results: We found 365 cases fulfilling the definition for GBS or one of its variants over 19,846,068 population ≥18 years of age, yielding an annual incidence rate of 1.84 per 100,000 (95% CI 1.65-2.03), 2.30 (95% CI 1.99-2.60) in men and 1.41 (95% CI 1.18-1.64) in women. A highly significant peak of incidence was observed in February 2011 as compared to reference month (September 2011, rate ratio 3.3:1, p < 0.01). Conclusions: In Italy, GBS incidence was among the highest reported in Europe and higher than previously observed in Italian studies.

Published
2015

10. Prevalence and phenotype of the c.1529C>T SPG 7 variant in adult‐onset cerebellar ataxia in Italy

Author

Mancini, C., primary, Giorgio, E., additional, Rubegni, A., additional, Pradotto, L., additional, Bagnoli, S., additional, Rubino, E., additional, Prontera, P., additional, Cavalieri, S., additional, Di Gregorio, E., additional, Ferrero, M., additional, Pozzi, E., additional, Riberi, E., additional, Ferrero, P., additional, Nigro, P., additional, Mauro, A., additional, Zibetti, M., additional, Tessa, A., additional, Barghigiani, M., additional, Antenora, A., additional, Sirchia, F., additional, Piacentini, S., additional, Silvestri, G., additional, De Michele, G., additional, Filla, A., additional, Orsi, L., additional, Santorelli, F. M., additional, and Brusco, A., additional

Published
2018
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11. Erratum to: Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area (Journal of Neurology, DOI: 10.1007/s00415-016-8064-9)

Author

Cortese, A., Vita, G., Luigetti, M., Russo, M., Bisogni, G., Sabatelli, M., Manganelli, F., Santoro, L., Cavallaro, T., Fabrizi, G. M., Schenone, A., Grandis, M., Gemelli, C., Mauro, A., Pradotto, L. G., Gentile, L., Stancanelli, C., Lozza, A., Perlini, S., Piscosquito, G., Calabrese, D., Mazzeo, A., Obici, L., and Pareyson, D.

Subjects
Neurology, Neurology (clinical)
Published
2016

12. Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

Author

Cortese, A, Vita, G, Luigetti, Marco, Russo, M, Bisogni, Giulia, Sabatelli, Mario, Manganelli, F, Santoro, L, Cavallaro, T, Fabrizi, G. M, Schenone, A, Grandis, M, Gemelli, C, Mauro, A, Pradotto, L. G, Gentile, L, Stancanelli, C, Lozza, A, Perlini, S, Piscosquito, G, Calabrese, D, Mazzeo, A, Obici, L, Pareyson, D., Luigetti, Marco (ORCID:0000-0001-7539-505X), Sabatelli, Mario (ORCID:0000-0001-6635-4985), Cortese, A, Vita, G, Luigetti, Marco, Russo, M, Bisogni, Giulia, Sabatelli, Mario, Manganelli, F, Santoro, L, Cavallaro, T, Fabrizi, G. M, Schenone, A, Grandis, M, Gemelli, C, Mauro, A, Pradotto, L. G, Gentile, L, Stancanelli, C, Lozza, A, Perlini, S, Piscosquito, G, Calabrese, D, Mazzeo, A, Obici, L, Pareyson, D., Luigetti, Marco (ORCID:0000-0001-7539-505X), and Sabatelli, Mario (ORCID:0000-0001-6635-4985)

Abstract

Tafamidis is a transthyretin (TTR) stabilizer able to prevent TTR tetramer dissociation. There have been a few encouraging studies on Tafamidis efficacy in early-onset inherited transthyretin amyloidosis (ATTR) due to Val30Met mutation. However, less is known about its efficacy in later disease stages and in non-Val30Met mutations. We performed a multi-center observational study on symptomatic ATTR patients prescribed to receive Tafamidis. We followed up patients according to a standardized protocol including general medical, cardiological and neurological assessments at baseline and every 6 months up to 3 years. Sixty-one (42 males) patients were recruited. Only 28 % of enrolled subjects had the common Val30Met mutation, mean age of onset was remarkably late (59 years) and 18 % was in advanced disease stage at study entry. Tafamidis proved safe and well-tolerated. One-third of patients did not show significant progression along 36 months, independently from mutation type and disease stage. Neurological function worsened particularly in the first 6 months but progression slowed significantly thereafter. Autonomic function remained stable in 33 %, worsened in 56 % and improved in 10 %. Fifteen percent of patients showed cardiac disease progression and 30 % new onset of cardiomyopathy. Overall, Tafamidis was not able to prevent functional progression of the disease in 23 (43 %) subjects, including 16 patients who worsened in their walking ability and 12 patients who reached a higher NYHA score during the follow-up period. A higher mBMI at baseline was associated with better preservation of neurological function. In conclusion, neuropathy and cardiomyopathy progressed in a significant proportion of patients despite treatment. However, worsening of neurological function slowed after the first 6 months and also subjects with more advanced neuropathy, as well as patients with non-Val30Met mutation, benefited from treatment. Body weight preservation is an important favorab

Published
2016

13. A Multicentric Prospective Incidence Study of Guillain-Barre Syndrome in Italy. the ITANG Study

Author

Benedetti, M. D., Pugliatti, M., Dalessandro, R., Beghi, E., Chio, A., Logroscino, G., Filippini, G., Galeotti, F., Massari, M., Santuccio, C., Raschetti R., Abruzzi L, Agazzi, E, Agostoni, E, Ambrogio, L, Amidei, S, Arbasino, C, Argentiero, V, Arnaboldi, M, Baldini, D, Barki, R, Bassi, P, Basso, F, Belcastro, V, Bellotti, M, Bersano, E, Besana, R, Bettoni, L, Bezzi, G, Bianconi, C, Bondavalli, M, Bonometti, A, Borghi, Am, Borsato, C, Bortolotto, S, Bottacchi, Ef, Bresolin, N, Bruno, S, Burlina, A, Cafasso, G, Callegarini, C, Calvo, A, Candeloro, E, Casano, A, Cattaneo, Si, Cavallo, R, Cheldi, A, Ciardo, G, Cirignotta, F, Clerici, Am, Clerici, R, Comi, G, Conti, R, Coppo, F, Covelli, V, Crespi, V, Currò Dossi, M, Curtò, Na, D'Adda, E, Dallocchio, C, D'Anna, S, De Massis, P, De Toni Franceschini, L, Di Vito, N, Didonè, G, Dileone, M, Donati, E, Dotta, M, Fazio, R, Federico, F, Ferrarese, C, Ferrazzini, F, Ferrero, B, Filosto, M, Frasson, E, Fusina, S, Galbussera, A, Gastaldo, E, Geda, C, Ghiglione, P, Giometto, B, Gionco, M, Giorgetti, A, Giussani, G, Gobbin, F, Grampa, G, Granieri, E, Greco, G, Guidetti, D, Guidi, C, Guidotti, M, Gusmaroli, G, Imperiale, D, Internò, S, Jann, S, La Spina, I, Leo, A, Leone, M, Leoni, S, Leotta, D, Lerario, R, Liotta, G, Livrea, P, Luda di Cortemiglio, E, Maggio, B, Magni, Eugenio, Magnoni, A, Maistrelli, J, Manca, D, Mandrioli, J, Manera, U, Marcello, N, Marchi, P, Marchini, C, Marconi, S, Mattioli, M, Mauro, A, Mazzaglia, G, Medici, D, Meineri, P, Meola, G, Micaglio, G, Michelucci, R, Michieli, G, Micieli, G, Minardi, C, Moglia, C, Monaco, S, Montanari, E, Moretto, G, Munerati, V, Mura, G, Mussutto, V, Nascimbene, C, Neri, W, Nichelli, P, Nobile-Orazio, E, Oddenino, E, Onorato, S, Padovani, A, Palermo, M, Papurello, Dm, Passarella, B, Pavesi, G, Penza, Mt, Perini, M, Perini, F, Perla, F, Perlotto, N, Perrone, P, Pignatta, P, Pisano, F, Poglio, F, Polo, A, Poloni, M, Porazzi, D, Pradotto, L, Previdi, P, Quatrale, R, Rasi, F, Ravasio, A, Ravetti, C, Repaci, M, Riccardi, T, Riguzzi, P, Rinaldi, R, Riva, M, Romeo, V, Romorini, A, Rosso, T, Rotondo, G, Sacquegna, T, Sanson, F, Santamato, V, Santoro, D, Sartori, V, Sasanelli, F, Savio, K, Serena, M, Silani, V, Silvestri, L, Simioni, V, Squintani, Gm, Suardelli, M, Tartagla, L, Terenghi, F, Terlizzi, E, Terzano, Mg, Tesser, F, Testa, L, Ticca, A, Ticozzi, N, Tiriticco, M, Tola, Mr, Tonietti, S, Trianni, G, Trojano, M, Trotta, F, Turatti, M, Ursino, E, Vanotti, A, Vercellino, M, Villani, A, Vitelli, E, Zambito Marsala, S, Zanette, G, Zarcone, D, Zimatore, G, Zoccolella, S., Magni E (ORCID:0000-0002-2235-2280), Benedetti, M. D., Pugliatti, M., Dalessandro, R., Beghi, E., Chio, A., Logroscino, G., Filippini, G., Galeotti, F., Massari, M., Santuccio, C., Raschetti R., Abruzzi L, Agazzi, E, Agostoni, E, Ambrogio, L, Amidei, S, Arbasino, C, Argentiero, V, Arnaboldi, M, Baldini, D, Barki, R, Bassi, P, Basso, F, Belcastro, V, Bellotti, M, Bersano, E, Besana, R, Bettoni, L, Bezzi, G, Bianconi, C, Bondavalli, M, Bonometti, A, Borghi, Am, Borsato, C, Bortolotto, S, Bottacchi, Ef, Bresolin, N, Bruno, S, Burlina, A, Cafasso, G, Callegarini, C, Calvo, A, Candeloro, E, Casano, A, Cattaneo, Si, Cavallo, R, Cheldi, A, Ciardo, G, Cirignotta, F, Clerici, Am, Clerici, R, Comi, G, Conti, R, Coppo, F, Covelli, V, Crespi, V, Currò Dossi, M, Curtò, Na, D'Adda, E, Dallocchio, C, D'Anna, S, De Massis, P, De Toni Franceschini, L, Di Vito, N, Didonè, G, Dileone, M, Donati, E, Dotta, M, Fazio, R, Federico, F, Ferrarese, C, Ferrazzini, F, Ferrero, B, Filosto, M, Frasson, E, Fusina, S, Galbussera, A, Gastaldo, E, Geda, C, Ghiglione, P, Giometto, B, Gionco, M, Giorgetti, A, Giussani, G, Gobbin, F, Grampa, G, Granieri, E, Greco, G, Guidetti, D, Guidi, C, Guidotti, M, Gusmaroli, G, Imperiale, D, Internò, S, Jann, S, La Spina, I, Leo, A, Leone, M, Leoni, S, Leotta, D, Lerario, R, Liotta, G, Livrea, P, Luda di Cortemiglio, E, Maggio, B, Magni, Eugenio, Magnoni, A, Maistrelli, J, Manca, D, Mandrioli, J, Manera, U, Marcello, N, Marchi, P, Marchini, C, Marconi, S, Mattioli, M, Mauro, A, Mazzaglia, G, Medici, D, Meineri, P, Meola, G, Micaglio, G, Michelucci, R, Michieli, G, Micieli, G, Minardi, C, Moglia, C, Monaco, S, Montanari, E, Moretto, G, Munerati, V, Mura, G, Mussutto, V, Nascimbene, C, Neri, W, Nichelli, P, Nobile-Orazio, E, Oddenino, E, Onorato, S, Padovani, A, Palermo, M, Papurello, Dm, Passarella, B, Pavesi, G, Penza, Mt, Perini, M, Perini, F, Perla, F, Perlotto, N, Perrone, P, Pignatta, P, Pisano, F, Poglio, F, Polo, A, Poloni, M, Porazzi, D, Pradotto, L, Previdi, P, Quatrale, R, Rasi, F, Ravasio, A, Ravetti, C, Repaci, M, Riccardi, T, Riguzzi, P, Rinaldi, R, Riva, M, Romeo, V, Romorini, A, Rosso, T, Rotondo, G, Sacquegna, T, Sanson, F, Santamato, V, Santoro, D, Sartori, V, Sasanelli, F, Savio, K, Serena, M, Silani, V, Silvestri, L, Simioni, V, Squintani, Gm, Suardelli, M, Tartagla, L, Terenghi, F, Terlizzi, E, Terzano, Mg, Tesser, F, Testa, L, Ticca, A, Ticozzi, N, Tiriticco, M, Tola, Mr, Tonietti, S, Trianni, G, Trojano, M, Trotta, F, Turatti, M, Ursino, E, Vanotti, A, Vercellino, M, Villani, A, Vitelli, E, Zambito Marsala, S, Zanette, G, Zarcone, D, Zimatore, G, Zoccolella, S., and Magni E (ORCID:0000-0002-2235-2280)

Abstract

To assess Guillain-Barre syndrome (GBS) incidence we relied on the Italian Network for the study of GBS (ITANG) established in 2010 in 7 Italian regions to analyse the association between influenza vaccination and GBS. Methods: All individuals aged ≥18 years, presenting with clinical manifestations that suggested GBS according to the universally accepted Asbury's diagnostic criteria (1990) were prospectively notified to a centralised database by ITANG neurologists over the period October 1, 2010-September 30, 2011. Through a telephone survey, 9 trained interviewers followed up the cases to diagnosis and then for 1 year since hospital discharge. Validation of case reporting was performed with the support of administrative data in 5 regions. Results: We found 365 cases fulfilling the definition for GBS or one of its variants over 19,846,068 population ≥18 years of age, yielding an annual incidence rate of 1.84 per 100,000 (95% CI 1.65-2.03), 2.30 (95% CI 1.99-2.60) in men and 1.41 (95% CI 1.18-1.64) in women. A highly significant peak of incidence was observed in February 2011 as compared to reference month (September 2011, rate ratio 3.3:1, p < 0.01). Conclusions: In Italy, GBS incidence was among the highest reported in Europe and higher than previously observed in Italian studies.

Published
2015

14. Frontal assessment battery scores and non-motor symptoms in parkinsonian disorders

Author

Marconi, R., Grasso, L., Antonini, A., De Gaspari, D., Barone, P., Santangelo, G., Colosimo, C., Meco, G., Avarello, T. P., Bottacchi, E., Cannas, A., Ceravolo, M. G., Ceravolo, R., Cicarelli, G., Gaglio, R. M., Giglia, L., Iemolo, F., Manfredi, M., Nicoletti, A., Pederzoli, M., Petrone, A., Pisani, A., Pontieri, F. E., Quatrale, R., Ramat, S., Scala, R., Volpe, G., Zappulla, S., Bentivoglio, R., Stocchi, F., Trianni, G., Del Dotto, P., Morgante, F., Morgante, L., Fabbrini, G., Benincasa, D., Sensi, M., Braga, M., Capecci, M., Caravona, N., D'Asta, G., De Falco, F. A., Pezzoli, G., Di Giovanni, M., Floris, G., Gallerini, S., Gurgone, G., Frosini, D., Meoni, S., Savica, R., Moschella, V., Pepe, F., Petretta, V., Randisi, M. G., Romeno, M., Picillo, M., Sorbello, V., Tiple, D., Guidubaldi, A., Muoio, R., Toni, V., Logi, C., Bartalini, S., Ulivelli, M., Perini, M., Lanfranchi, S., Griffini, S., Troianiello, B., Baratti, M., Amidei, S., Consoli, D., Iellamo, M., Cuomo, T., Scaglioni, A., Medici, D., Abbruzzese, G., Di Brigida, G., Cocco, G. A., Agnetti, V., Cossu, G., Deriu, M., Abrignani, M., Modica, C., Albani, G., Pradotto, L., Martinelli, P., Scaglione, C., Mucchiut, M., Zanini, S., Pennisi, F., Soliveri, P., Albanese, A., Bartolomei, L., L'Erario, R., Capus, L., Ferigo, L., Marano, R., Nastasi, V., Luciano, R., Maiello, L., Simone, P., Fogli, D., Lopiano, L., Pesare, M., Nordera, G., Pilleri, E., Scaravilli, T., Giaccaglini, E., Alesi, C., Corbetta, T., Sgarbi, S., Rapisarda, A., Rizzoli, S., Zanoli, L., Manfredi, A., Marconi, R, Antonini, A, Barone, P, Colosimo, C, Avarello, Tp, Bottacchi, E, Cannas, A, Ceravolo, Mg, Ceravolo, R, Cicarelli, G, Gaglio, Rm, Giglia, L, Iemolo, F, Manfredi, M, Meco, G, Nicoletti, A, Pederzoli, M, Petrone, A, Pisani, A, Pontieri, Fe, Quatrale, R, Ramat, S, Scala, R, Volpe, G, Zappulla, S, Bentivoglio, Ar, Stocchi, F, Trianni, G, Del Dotto, P, De Gaspari, D, Grasso, L, Morgante, F, Santangelo, Gabriella, Fabbrini, G, Morgante, L, and PRIAMO study, Group

Subjects
Questionnaires, Lung Diseases, Male, Aged, Aged, 80 and over, Attention Deficit Disorder with Hyperactivity, Cardiovascular Diseases, Cognition Disorders, Fatigue, Female, Frontal Lobe, Gastrointestinal Diseases, Humans, Kidney Diseases, Logistic Models, Longitudinal Studies, Middle Aged, Parkinsonian Disorders, Predictive Value of Tests, Skin Diseases, Sleep Wake Disorders, Surveys and Questionnaires, Neuropsychological Tests, 2708, Neurology (clinical), Psychiatry and Mental Health, Neurology, Disease, Logistic regression, Parkinson and cognitive impairment, 80 and over, Verbal fluency test, Neuroradiology, Sleep Disorders, General Medicine, non-motor symptoms, Psychiatry and Mental health, Settore MED/26 - NEUROLOGIA, Frontal lobe, Predictive value of tests, Psychology, medicine.medical_specialty, Dermatology, behavioral disciplines and activities, Internal medicine, medicine, Psychiatry, Surrogate endpoint, Frontal functions, Non-motor symptoms, frontal functions, parkinson and cognitive impairment
Abstract

Using data from the PRIAMO study, we investigated non-motor symptoms (NMS) versus frontal lobe dysfunction in patients with idiopathic Parkinson disease (PD); 808 patients with PD and 118 with atypical parkinsonisms (AP) were consecutively enrolled at 55 Centers in Italy. Twelve categories of NMS were investigated. Cognitive impairment was defined as a Mini-Mental Status Evaluation score ≤ 23.8 and frontal lobe dysfunction as a Frontal Assessment Battery (FAB) score ≤ 3.48. Multivariable logistic regression was used to identify predictor of frontal lobe dysfunction in 524 PD patients, and a generalized linear model was used for each of the six FAB items. Not only the total FAB scores but also the single FAB items were lower in AP versus PD (p ≤ 0.005). Age (OR = 1.05), cognitive impairment (OR = 9.54), lack of cardiovascular symptoms (OR = 3.25), attention or memory problems (OR = 0.59) and treatment with L: -DOPA (OR = 5.58) were predictors of frontal lobe dysfunction. MMSE was negatively associated with all FAB items (β ≤ -0.16) and age with all FAB items but prehension behavior (β ≤ -0.01). Previous use of L: -DOPA was negatively associated with verbal fluency (β = -0.32) possibly acting as surrogate marker of disease duration. Cognitive impairment is a predictor of frontal lobe dysfunction. Among NMS, lack of attention or memory problems were negatively associated with frontal impairment. Further studies are nonetheless needed to better identify the predictors of frontal impairment in PD patients.

Published
2012

21. PRACTICAL AND PSYCHOLOGICAL DIFFICULTIES EXPERIENCED BY PATIENTS WITH HEREDITARY TRANSTHYRETIN AMYLOIDOSIS (HATTR) IN ITALY: PRELIMINARY RESULTS FROM THE TELETHON GUP 15010 STUDY

Author

Magliano, L., Citarelli, G., Obici, L., Sforzini, C., Di Buduo, E., Sabatelli, M., Luigetti, M., Bisogni, G., Grandis, M., Gemelli, C., Fabrizi, G., Cavallaro, T., Pareyson, D., Fenu, S., Santoro, L., Manganelli, F., Mauro, A., Pradotto, L., Antonini, G., Leonardi, L., Fiammetta Vanoli, Russo, M., Stancanelli, C., Mazzeo, A., and Vita, G.

25. Electrogastrographyc activity in Parkinson's disease patients with and without motor fluctuations

Author

Albani, G., El Assawy, N., Cattaldo, S., Gennaro, M., Gregorini, F., Pradotto, L., and Alessandro Mauro

Subjects
Antiparkinson Agents, Electrophysiology, Levodopa, Male, Random Allocation, Gastrointestinal Diseases, Humans, Female, Parkinson Disease, Middle Aged, Motor Activity, Gastrointestinal Motility, Aged
Abstract

Gastroenteric dysfunctions are very common in Parkinson's disease, but their relationship with dopaminergic response and motor fluctuations is still unclear. Electrogastrography is a noninvasive method for measuring gastric myoelectrical activity.We evaluated the effects of levodopa intake on the motility of empty stomachs in Parkinson's disease patients with and without motor fluctuations.The electrogastrography findings showed a normal pattern not influenced by levodopa intake, unrelated to plasmatic levodopa concentrations and to clinical parameters.Our results suggest that at rest gastric activity of Parkinson's disease patients is normal and plasmatic levodopa variability is not influenced by gastric motility.

26. Nerve Compression Injuries After Prolonged Prone Position Ventilation in Patients With SARS-CoV-2: A Case Series

Author

Francesca Bianchi, Pietro Mortini, Giacomo Monti, Calogera Butera, Alfio Spina, Sandro Iannaccone, Paola Castellazzi, Luigia Brugliera, Luca Pradotto, Ubaldo Del Carro, Paolo Cimino, Massimo Filippi, Paolo Capodaglio, Lorenzo Priano, Brugliera, L., Filippi, M., Del Carro, U., Butera, C., Bianchi, F., Castellazzi, P., Cimino, P., Capodaglio, P., Monti, G., Mortini, P., Pradotto, L. G., Priano, L., Spina, A., and Iannaccone, S.

Subjects
Adult, Male, 030506 rehabilitation, medicine.medical_specialty, ARDS, Physical Therapy, Sports Therapy and Rehabilitation, medicine.disease_cause, Patient Positioning, law.invention, 03 medical and health sciences, Prone position, 0302 clinical medicine, law, Medicine, Humans, Brachial plexus, Coronavirus, Aged, Retrospective Studies, Respiratory distress, business.industry, SARS-CoV-2, Respiration, Nerve Compression Syndromes, Rehabilitation, COVID-19, Middle Aged, medicine.disease, Intensive care unit, Respiration, Artificial, Nerve compression syndrome, Plexopathy, Italy, Artificial, Emergency medicine, Prone Position, 0305 other medical science, business, 030217 neurology & neurosurgery
Abstract

Background Prone positioning improves oxygenation in adult respiratory distress syndrome. This procedure has been widely used during the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic. However, this procedure can also be responsible for nerve damage and plexopathy. Methods We retrospectively reviewed a series of 7 infectious patients with coronavirus disease 2019 who underwent prone positioning ventilation at the San Raffaele Hospital of Milan, Italy, during the SARS-CoV-2 pandemic. Results Clinical and neurophysiological data of 7 patients with nerve compression injuries have been reported. Conclusions Health care workers should take into consideration the risk factors for prone positioning–related plexopathy and nerve damage, especially in patients with coronavirus disease 2019, to prevent this type of complication.

Published
2021

27. Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy

Author

Magliano, Lorenza, Obici, Laura, Sforzini, Claudia, Mazzeo, Anna, Russo, Massimo, Cappelli, Francesco, Fenu, Silvia, Luigetti, Marco, Tagliapietra, Matteo, Gemelli, Chiara, Leonardi, Luca, Tozza, Stefano, Pradotto, Luca Guglielmo, Citarelli, Giulia, Mauro, Alessandro, Manganelli, Fiore, Antonini, Giovanni, Grandis, Marina, Fabrizi, Gian Maria, Sabatelli, Mario, Pareyson, Davide, Perfetto, Federico, Merlini, Giampaolo, Vita, Giuseppe, Giulia, Bisogni, Daniela, Calabrese, Davide, Cardellini, Silvia, Casagrande, Tiziana, Cavallaro, Eleonora Di Buduo, Andrea Di Paolantonio, Gentile, Luca, Graceffa, Anita Maria Stella, Sara, Massucco, Alessandra, Milesi, Stefania, Morino, Roberta, Mussinelli, Paola, Saveri, Daniele, Severi, Magliano, Lorenza, Obici, Laura, Sforzini, Claudia, Mazzeo, Anna, Russo, Massimo, Cappelli, Francesco, Fenu, Silvia, Luigetti, Marco, Tagliapietra, Matteo, Gemelli, Chiara, Leonardi, Luca, Tozza, Stefano, Pradotto, Luca Guglielmo, Citarelli, Giulia, Mauro, Alessandro, Manganelli, Fiore, Antonini, Giovanni, Grandis, Marina, Fabrizi, Gian Maria, Sabatelli, Mario, Pareyson, Davide, Perfetto, Federico, Merlini, Giampaolo, Vita, Giuseppe, Magliano, L., Obici, L., Sforzini, C., Mazzeo, A., Russo, M., Cappelli, F., Fenu, S., Luigetti, M., Tagliapietra, M., Gemelli, C., Leonardi, L., Tozza, S., Pradotto, L. G., Citarelli, G., Mauro, A., Manganelli, F., Antonini, G., Grandis, M., Fabrizi, G. M., Sabatelli, M., Pareyson, D., Perfetto, F., Merlini, G., Vita, G., Bisogni, G., Calabrese, D., Cardellini, D., Casagrande, S., Cavallaro, T., Dibuduo, E., Dipaolantonio, A., Gentile, L., Graceffa, A., Massucco, S., Milesi, A., Morino, S., Mussinelli, R., Saveri, P., and Severi, D.

Subjects
0301 basic medicine, Adult, medicine.medical_specialty, Activities of daily living, media_common.quotation_subject, Psychological intervention, lcsh:Medicine, ATTRv, Burden, Caregiving, Hereditary transthyretin amyloidosis, Professional support, Social network support, Amyloid Neuropathies, Familial, Humans, Italy, Surveys and Questionnaires, Quality of Life, Social Support, Disease, 030105 genetics & heredity, Amyloid Neuropathies, Hereditary transthyretin amyloidosis, ATTRv, Burden, Professional support, Social network support, Caregiving, 03 medical and health sciences, Social support, 0302 clinical medicine, Quality of life (healthcare), Familial, medicine, Pharmacology (medical), Psychiatry, Genetics (clinical), media_common, Social network, business.industry, Research, lcsh:R, General Medicine, Hereditary transthyretin amyloidosi, Settore MED/26 - NEUROLOGIA, Feeling, business, Psychosocial, 030217 neurology & neurosurgery
Abstract

Background Hereditary transthyretin amyloidosis (hATTR), alias ATTR variant (ATTRv) is a severe and disabling disease causing sensory and motor neuropathy, autonomic dysfunction, and cardiomyopathy. The progressive decline of patient’s functional autonomy negatively affects the patient’s quality of life and requires increasing involvement of relatives in the patient’s daily life. Family caregiving may become particularly demanding when the patient is no longer able to move independently. This study is focused on the psychosocial aspects of ATTRv from the patient and relative perspectives. In particular, it explored: the practical and psychological burdens experienced by symptomatic patients with ATTRv and their key relatives and the professional and social network support they may rely on; whether burden varied in relation to patients’ and relatives’ socio-demographic variables, patients’ clinical variables, and perceived professional and social network support; and, any difference in burden and support between patients and their matched relatives. Methods The study was carried out on symptomatic patients included in the ATTRv Italian national registry and living with at least one adult relative not suffering from severe illness and being free from ATTRv symptoms. Patients and relatives’ assessments were performed using validated self-reported tools. Results Overall, 141 patients and 69 relatives were evaluated. Constraints of leisure activities, feelings of loss and worries for the future were the consequences of ATTRv most frequently reported by patients and relatives. Both in patients and their relatives, the burden increased with the duration of symptoms and the level of help in daily activities needed by the patient. In the 69 matched patient-relative pairs, the practical burden was significantly higher among the patients than among their relatives, while the psychological burden was similar in the two groups. Moreover, compared to their relatives, patients with ATTRv reported higher levels of professional and social network support. Conclusions These results show that ATTRv is a disease affecting quality of life of both patients and their families. Supporting interventions should be guaranteed to patients, to facilitate their adaptation to the disease, and to their families, to cope as best as possible with the difficulties that this pathology may involve.

Published
2020

28. Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy

Author

Marta Ferrero, G. De Michele, Elisa Pozzi, Gabriella Silvestri, L. Pradotto, Elisa Giorgio, Simona Cavalieri, Elisa Rubino, Cecilia Mancini, Filippo M. Santorelli, Antonella Antenora, Anna Rubegni, Alfredo Brusco, Melissa Barghigiani, Siro Bagnoli, Fabio Sirchia, Alessandro Mauro, Alessandro Filla, Patrizia Ferrero, S. Piacentini, Laura Orsi, Maurizio Zibetti, E. Di Gregorio, Paolo Prontera, Pasquale Nigro, Alessandra Tessa, Evelise Riberi, Mancini, C, Giorgio, E, Rubegni, A, Pradotto, L, Bagnoli, S, Rubino, E, Prontera, P, Cavalieri, S, Di Gregorio, E, Ferrero, M, Pozzi, E, Riberi, E, Ferrero, P, Nigro, P, Mauro, A, Zibetti, M, Tessa, A, Barghigiani, M, Antenora, A, Sirchia, F, Piacentini, S, Silvestri, G, De Michele, G, Filla, A, Orsi, L, Santorelli, Fm, and Brusco, A

Subjects
Male, Urinary urgency, hereditary ataxia, SCAR, Ala510Val, SPG7, paraplegin, spastic ataxia, Compound heterozygosity, Gastroenterology, Polymerase Chain Reaction, Cohort Studies, Dysarthria, 0302 clinical medicine, Prevalence, Medicine, 030212 general & internal medicine, Age of Onset, Sanger sequencing, Aged, 80 and over, Paraplegin, Homozygote, Metalloendopeptidases, Middle Aged, Phenotype, Neurology, Italy, symbols, Female, medicine.symptom, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Heterozygote, Ataxia, Cerebellar Ataxia, 03 medical and health sciences, symbols.namesake, Internal medicine, Humans, Genetic Association Studies, Aged, Ala510Valhereditary ataxiaparapleginautosomal recessive spinocerebellar ataxiasspastic ataxiaSPG7, Cerebellar ataxia, business.industry, Mutation, ATPases Associated with Diverse Cellular Activities, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

Background and purpose Hereditary ataxias are heterogeneous groups of neurodegenerative disorders, characterized by cerebellar syndromes associated with dysarthria, oculomotor and corticospinal signs, neuropathy and cognitive impairment. Recent reports have suggested mutations in the SPG7 gene, causing the most common form of autosomal recessive spastic paraplegia (MIM#607259), as a main cause of ataxias. The majority of described patients were homozygotes or compound heterozygotes for the c.1529C>T (p.Ala510Val) change. We screened a cohort of 895 Italian patients with ataxia for p.Ala510Val in order to define the prevalence and genotype-phenotype correlation of this variant. Methods We set up a rapid assay for c.1529C>T using restriction enzyme analysis after polymerase chain reaction amplification. We confirmed the diagnosis with Sanger sequencing. Results We identified eight homozygotes and 13 compound heterozygotes, including two novel variants affecting splicing. Mutated patients showed a pure cerebellar ataxia at onset, evolving in mild spastic ataxia (alternatively) associated with dysarthria (similar to 80% of patients), urinary urgency (similar to 30%) and pyramidal signs (similar to 70%). Comparing homozygotes and compound heterozygotes, we noted a difference in age at onset and Scale for the Assessment and Rating of Ataxia score between the two groups, supporting an earlier and more severe phenotype in compound heterozygotes versus homozygotes. Conclusions The SPG7 c.1529C>T (p.Ala510Val) mutants accounted for 2.3% of cerebellar ataxia cases in Italy, suggesting that this variant should be considered as a priority test in the presence of late-onset pure ataxia. Moreover, the heterozygous/homozygous genotype appeared to predict the onset of clinical manifestation and disease progression.

Published
2019

29. Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

Author

Andrea Cortese, Chiara Gemelli, Fiore Manganelli, Davide Pareyson, Claudia Stancanelli, Giuseppe Piscosquito, Anna Mazzeo, Gianluca Vita, Marco Luigetti, Lucio Santoro, Tiziana Cavallaro, Luca Gentile, Alessandro Mauro, Mario Sabatelli, Stefano Perlini, Laura Obici, Alessandro Lozza, Luca Pradotto, Margherita Russo, Daniela Calabrese, Angelo Schenone, Giulia Bisogni, Marina Grandis, Gian Maria Fabrizi, Cortese, A., Vita, G., Luigetti, M., Russo, M., Bisogni, G., Sabatelli, M., Manganelli, Fiore, Santoro, Lucio, Cavallaro, T., Fabrizi, G. M., Schenone, A., Grandis, M., Gemelli, C., Mauro, A., Pradotto, L. G., Gentile, L., Stancanelli, C., Lozza, A., Perlini, S., Piscosquito, G., Calabrese, D., Mazzeo, A., Obici, L., and Pareyson, D.

Subjects
Male, Tafamidis, Amyloid polyneuropathy, Neurology, Cardiomyopathy, Disease, 030204 cardiovascular system & hematology, Severity of Illness Index, Transthyretin, chemistry.chemical_compound, 0302 clinical medicine, Prealbumin, Tafamidi, Longitudinal Studies, Stage (cooking), Aged, 80 and over, Benzoxazoles, biology, Amyloidosis, Middle Aged, amyloid polyneuropathy, tafamidis, transthyretin, Prognosis, Settore MED/26 - NEUROLOGIA, Treatment Outcome, Italy, Disease Progression, Female, Neurology (clinical), Adult, medicine.medical_specialty, 03 medical and health sciences, Internal medicine, Severity of illness, medicine, Humans, Aged, Amyloid Neuropathies, Familial, business.industry, nutritional and metabolic diseases, medicine.disease, Surgery, chemistry, Mutation, biology.protein, business, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract

Tafamidis is a transthyretin (TTR) stabilizer able to prevent TTR tetramer dissociation. There have been a few encouraging studies on Tafamidis efficacy in early-onset inherited transthyretin amyloidosis (ATTR) due to Val30Met mutation. However, less is known about its efficacy in later disease stages and in non-Val30Met mutations. We performed a multi-center observational study on symptomatic ATTR patients prescribed to receive Tafamidis. We followed up patients according to a standardized protocol including general medical, cardiological and neurological assessments at baseline and every 6 months up to 3 years. Sixty-one (42 males) patients were recruited. Only 28 % of enrolled subjects had the common Val30Met mutation, mean age of onset was remarkably late (59 years) and 18 % was in advanced disease stage at study entry. Tafamidis proved safe and well-tolerated. One-third of patients did not show significant progression along 36 months, independently from mutation type and disease stage. Neurological function worsened particularly in the first 6 months but progression slowed significantly thereafter. Autonomic function remained stable in 33 %, worsened in 56 % and improved in 10 %. Fifteen percent of patients showed cardiac disease progression and 30 % new onset of cardiomyopathy. Overall, Tafamidis was not able to prevent functional progression of the disease in 23 (43 %) subjects, including 16 patients who worsened in their walking ability and 12 patients who reached a higher NYHA score during the follow-up period. A higher mBMI at baseline was associated with better preservation of neurological function. In conclusion, neuropathy and cardiomyopathy progressed in a significant proportion of patients despite treatment. However, worsening of neurological function slowed after the first 6 months and also subjects with more advanced neuropathy, as well as patients with non-Val30Met mutation, benefited from treatment. Body weight preservation is an important favorable prognostic factor.

Published
2016
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30. Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.

Author

Mancini C, Giorgio E, Rubegni A, Pradotto L, Bagnoli S, Rubino E, Prontera P, Cavalieri S, Di Gregorio E, Ferrero M, Pozzi E, Riberi E, Ferrero P, Nigro P, Mauro A, Zibetti M, Tessa A, Barghigiani M, Antenora A, Sirchia F, Piacentini S, Silvestri G, De Michele G, Filla A, Orsi L, Santorelli FM, and Brusco A

Subjects
Age of Onset, Aged, Aged, 80 and over, Cohort Studies, Female, Genetic Association Studies, Heterozygote, Homozygote, Humans, Italy epidemiology, Male, Middle Aged, Mutation, Polymerase Chain Reaction, Prevalence, ATPases Associated with Diverse Cellular Activities genetics, Cerebellar Ataxia epidemiology, Cerebellar Ataxia genetics, Metalloendopeptidases genetics
Abstract

Background and Purpose: Hereditary ataxias are heterogeneous groups of neurodegenerative disorders, characterized by cerebellar syndromes associated with dysarthria, oculomotor and corticospinal signs, neuropathy and cognitive impairment. Recent reports have suggested mutations in the SPG7 gene, causing the most common form of autosomal recessive spastic paraplegia (MIM#607259), as a main cause of ataxias. The majority of described patients were homozygotes or compound heterozygotes for the c.1529C>T (p.Ala510Val) change. We screened a cohort of 895 Italian patients with ataxia for p.Ala510Val in order to define the prevalence and genotype-phenotype correlation of this variant., Methods: We set up a rapid assay for c.1529C>T using restriction enzyme analysis after polymerase chain reaction amplification. We confirmed the diagnosis with Sanger sequencing., Results: We identified eight homozygotes and 13 compound heterozygotes, including two novel variants affecting splicing. Mutated patients showed a pure cerebellar ataxia at onset, evolving in mild spastic ataxia (alternatively) associated with dysarthria (~80% of patients), urinary urgency (~30%) and pyramidal signs (~70%). Comparing homozygotes and compound heterozygotes, we noted a difference in age at onset and Scale for the Assessment and Rating of Ataxia score between the two groups, supporting an earlier and more severe phenotype in compound heterozygotes versus homozygotes., Conclusions: The SPG7 c.1529C>T (p.Ala510Val) mutants accounted for 2.3% of cerebellar ataxia cases in Italy, suggesting that this variant should be considered as a priority test in the presence of late-onset pure ataxia. Moreover, the heterozygous/homozygous genotype appeared to predict the onset of clinical manifestation and disease progression., (© 2018 EAN.)

Published
2019
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31. Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.

Author

Iorio A, De Lillo A, De Angelis F, Di Girolamo M, Luigetti M, Sabatelli M, Pradotto L, Mauro A, Mazzeo A, Stancanelli C, Perfetto F, Frusconi S, My F, Manfellotto D, Fuciarelli M, and Polimanti R

Subjects
Amyloidosis diagnosis, Female, Genotype, Heterozygote, Humans, Male, Prealbumin metabolism, Amyloidosis genetics, Mutation, Phenotype, Prealbumin genetics
Abstract

Coding mutations in TTR gene cause a rare hereditary form of systemic amyloidosis, which has a complex genotype-phenotype correlation. We investigated the role of non-coding variants in regulating TTR gene expression and consequently amyloidosis symptoms. We evaluated the genotype-phenotype correlation considering the clinical information of 129 Italian patients with TTR amyloidosis. Then, we conducted a re-sequencing of TTR gene to investigate how non-coding variants affect TTR expression and, consequently, phenotypic presentation in carriers of amyloidogenic mutations. Polygenic scores for genetically determined TTR expression were constructed using data from our re-sequencing analysis and the GTEx (Genotype-Tissue Expression) project. We confirmed a strong phenotypic heterogeneity across coding mutations causing TTR amyloidosis. Considering the effects of non-coding variants on TTR expression, we identified three patient clusters with specific expression patterns associated with certain phenotypic presentations, including late onset, autonomic neurological involvement, and gastrointestinal symptoms. This study provides novel data regarding the role of non-coding variation and the gene expression profiles in patients affected by TTR amyloidosis, also putting forth an approach that could be used to investigate the mechanisms at the basis of the genotype-phenotype correlation of the disease.

Published
2017
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32. Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation.

Author

Pradotto L, Mencarelli M, Bigoni M, Milesi A, Di Blasio A, and Mauro A

Subjects
Adolescent, Ataxia diagnostic imaging, Ataxia therapy, Brain diagnostic imaging, Child, Family, Female, Humans, Male, Middle Aged, Phenotype, Spinocerebellar Ataxias diagnostic imaging, Spinocerebellar Ataxias therapy, Young Adult, Ataxia genetics, Calcium Channels genetics, Mutation, Spinocerebellar Ataxias genetics
Abstract

Several dominant mutations of CACNA1A gene were associated with at least three different allelic disorders: spino-cerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2), and familial hemiplegic migraine-1 (FHM1). It is generally thought that loss-of-function mutations are associated with EA2, gain-of-function missense mutations with FHM1, and abnormal CAG expansions with SCA6. But, overlapping features, atypical symptoms and co-occurrence of distinct phenotypes within the same family were reported. We describe a four generation family showing different phenotypes ranging from EA2 to SCA6 and carrying the p.D302N CACNA1A gene mutation. In our family the phenotypes maintained separate and gender differences corresponding to different phenotypes were observed., (Copyright © 2016 Elsevier B.V. All rights reserved.)

Published
2016
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33. Recurrent transient global amnesia as presenting symptoms of CADASIL.

Author

Pradotto L, Orsi L, Mencarelli M, Caglio M, Lauro D, Milesi A, Di Blasio A, and Mauro A

Abstract

Despite transient global amnesia is considered unusual in Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and causal relation is still unclear, this report suggests to consider CADASIL in those patients with recurrent transient global amnesia, especially when MRI shows multifocal hyperintensities affecting the cerebral white matter or when it is followed by cognitive decline.

Published
2016
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34. Most recent common ancestor of TTR Val30Met mutation in Italian population and its potential role in genotype-phenotype correlation.

Author

Iorio A, De Angelis F, Di Girolamo M, Luigetti M, Pradotto L, Mauro A, Manfellotto D, Fuciarelli M, and Polimanti R

Subjects
Amyloidosis genetics, Genetic Variation genetics, Haplotypes genetics, Humans, Portugal, Sweden, Genetic Association Studies methods, Mutation genetics, Prealbumin genetics
Abstract

Introduction: Transthyretin (TTR)-related amyloidosis is characterized by autosomal transmission of amyloidogenic mutated TTR. Val30Met is one of the most common amyloidogenic TTR mutations, showing a worldwide distribution with phenotypic heterogeneity among human populations. Multiple founder mutations for Val30Met foci have been hypothesized and the different origins may explain the phenotypic variability. The aim of our study is to determine the origin of Italian Val30Met and to analyze the genetic relationship of other Val30Met foci., Methods: We analyzed the origin of Italian Val30Met through 11 microsatellite markers around the TTR gene in 29 patients and 34 healthy controls., Results: Our genetic analysis showed an estimated age of origin of 34-36 generations ago for the Italian Val30Met. Comparing Italian Val30Met haplotypes with those from Sweden and Portugal highlights relevant differences that seem to be consistent with an independent origin of Italian Val30Met mutation. This genetic evidence agrees with the disease phenotypic variation in these populations., Discussion and Conclusions: Italian Val30Met mutation should have originated before the Portuguese and Swedish Val30Met ones (which arose through independent mutational events). This indicates a genetic diversity in the surrounding regions of three different Val30Met mutations, supporting the hypothesis that TTR non-coding regions may contribute to phenotypic heterogeneity.

Published
2015
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35. Amyloid polyneuropathy following domino liver transplantation.

Author

Pradotto L, Franchello A, Milesi A, Romagnoli R, Bigoni M, Vigna L, Di Sapio A, Salizzoni M, and Mauro A

Subjects
Action Potentials physiology, Aged, Amyloid Neuropathies physiopathology, Disease Progression, Hepatitis B complications, Hepatitis C complications, Humans, Liver Cirrhosis virology, Male, Sural Nerve physiopathology, Amyloid Neuropathies diagnosis, Amyloid Neuropathies etiology, Liver Cirrhosis surgery, Liver Transplantation adverse effects
Published
2012
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36. A new NOTCH3 mutation presenting as primary intracerebral haemorrhage.

Author

Pradotto L, Orsi L, Daniele D, Caroppo P, Lauro D, Milesi A, Sellitti L, and Mauro A

Subjects
Aged, Diagnosis, Differential, Humans, Male, Receptor, Notch3, Cerebral Hemorrhage diagnosis, Cerebral Hemorrhage genetics, Mutation genetics, Receptors, Notch genetics
Abstract

Primary intracerebral haemorrhages (PICH) are defined as haemorrhages within the brain parenchyma in the absence of readily identifiable causes. CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary vascular disease and its mainly clinical manifestations are early-onset infarcts. Spontaneous lobar haematomas are a rare occurrence. We report a very unusual presentation of CADASIL in a 65 year-old man carrying a new NOTCH3 mutation. The clinical onset of the disease was related to an intracerebral haematoma following colon surgery and causing a delirium. In brief, our report suggests that CADASIL must be considered in patient with PICH., (Copyright © 2011 Elsevier B.V. All rights reserved.)

Published
2012
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37. Electrogastrographyc activity in Parkinson's disease patients with and without motor fluctuations.

Author

Albani G, El Assawy N, Cattaldo S, De Gennaro M, Gregorini F, Pradotto L, and Mauro A

Subjects
Aged, Antiparkinson Agents adverse effects, Antiparkinson Agents pharmacokinetics, Female, Gastrointestinal Diseases chemically induced, Gastrointestinal Motility drug effects, Humans, Levodopa adverse effects, Levodopa pharmacokinetics, Male, Middle Aged, Motor Activity drug effects, Parkinson Disease drug therapy, Random Allocation, Electrophysiology methods, Gastrointestinal Diseases physiopathology, Gastrointestinal Motility physiology, Motor Activity physiology, Parkinson Disease physiopathology
Abstract

Background: Gastroenteric dysfunctions are very common in Parkinson's disease, but their relationship with dopaminergic response and motor fluctuations is still unclear. Electrogastrography is a noninvasive method for measuring gastric myoelectrical activity., Methods: We evaluated the effects of levodopa intake on the motility of empty stomachs in Parkinson's disease patients with and without motor fluctuations., Results: The electrogastrography findings showed a normal pattern not influenced by levodopa intake, unrelated to plasmatic levodopa concentrations and to clinical parameters., Conclusions: Our results suggest that at rest gastric activity of Parkinson's disease patients is normal and plasmatic levodopa variability is not influenced by gastric motility., (Copyright © 2011 Movement Disorder Society.)

Published
2011
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38. Molecular genetic changes in a series of neuroepithelial tumors of childhood.

Author

Di Sapio A, Morra I, Pradotto L, Guido M, Schiffer D, and Mauro A

Subjects
Adolescent, Child, Child, Preschool, Cyclin-Dependent Kinase 4, Cyclin-Dependent Kinases genetics, DNA Mutational Analysis, DNA, Neoplasm analysis, Genes, erbB-1 genetics, Genes, p53 genetics, Humans, Infant, Polymerase Chain Reaction, Proto-Oncogene Proteins c-mdm2, Receptors, Platelet-Derived Growth Factor genetics, Astrocytoma genetics, Brain Neoplasms genetics, Gene Amplification, Nuclear Proteins, Proto-Oncogene Proteins genetics
Abstract

Amplification of the EGFR, mdm2, CDK4 and PDGFR A genes has been widely demonstrated in adult malignant gliomas, almost exclusively glioblastomas. To determine the role of these mutational events in pediatric astrocytic gliomas we investigated the presence of EGFR, mdm2, CDK4 and PDGFR A gene amplification in 38 childhood brain tumor biopsies, including 24 low-grade astrocytomas and 14 malignant tumors. We used differential PCR assay on DNA extracted either from paraffin embedded or frozen tissues. EGFR gene amplification was detected in 4 out of 14 malignant tumors; no low-grade astrocytoma showed amplification. Tumors with EGFR gene amplification were negative for the presence of p53 mutations, as observed in a previous study. One glioblastoma showed PDGFR A amplification, while no amplifications were observed for mdm2 and CDK4 genes. These data are in line with those obtained from studies on gliomas of adults and suggest the existence of two different subsets of malignant gliomas also in pediatric brain tumors: one carrying EGFR gene amplification, the other showing p53 mutations.

Published
2002
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39. MDM2 overexpression is associated with short survival in adults with medulloblastoma.

Author

Giordana MT, Duó D, Gasverde S, Trevisan E, Boghi A, Morra I, Pradotto L, Mauro A, and Chió A

Subjects
Adult, Cerebellar Neoplasms metabolism, Cerebellar Neoplasms radiotherapy, Female, Gene Amplification, Gene Expression, Genes, p53, Humans, Immunoenzyme Techniques, Male, Medulloblastoma metabolism, Medulloblastoma radiotherapy, Middle Aged, Polymerase Chain Reaction, Prognosis, Proto-Oncogene Proteins analysis, Proto-Oncogene Proteins c-mdm2, Survival Rate, Tumor Suppressor Protein p53 analysis, Cerebellar Neoplasms genetics, Cerebellar Neoplasms mortality, Medulloblastoma genetics, Medulloblastoma mortality, Nuclear Proteins, Proto-Oncogene Proteins genetics, Tumor Suppressor Protein p53 genetics
Abstract

In adult medulloblastoma, postoperative radiotherapy is significantly effective in prolonging time to recurrence and survival time; however, the response of individual cases to radiotherapy, that is the total survival, is different. Apoptosis is an important cellular response to radiation. It can be hypothesized that the individual radiosensitivity of medulloblastomas depends on the individual capability to undergo apoptosis. p53 protein is involved in the apoptotic response to ionizing radiation; loss of function of p53 can be the consequence not only of TP53 mutations, but also of amplification and/or overexpression of the MDM2 gene. We have analyzed cerebellar medulloblastomas from 51 adults (>16 years of age) for MDM2 gene amplification (by differential polymerase chain reaction assay), TP53 gene mutation (by polymerase chain reaction single-strand conformation polymorphism analysis of exons 5-8), and immunohistochemical expression of p53 (clone DO1) and MDM2 (clone IF2). The results have been evaluated in relation to age, tumor location, classic or desmoplastic type, MIB-1 labeling index, and total survival. No tumor had MDM2 amplification. Ten tumors had MDM2 positive tumor cells. One case had a mutated TP53 gene; 16/51 cases had intense p53 immunostaining. Only 2 MDM2 protein-positive tumors were also p53-positive. Both subgroups of MDM2 - and p53-positive tumors had a significantly shorter postoperative survival. In conclusion, the overexpression of MDM2 protein and the accumulation of wild-type p53 are unrelated in adult medulloblastoma; they may result in a reduced apoptotic response after radiotherapy and contribute to a shortened survival. Also, MDM2 amplification and TP53 gene mutation are rare events in medulloblastomas of adults.

Published
2002
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