Progetto Moniter: un modello di VIS per gli impianti di incenerimento

The Emilia-Romagna regional government decided to develop a monitoring and surveillance system, known as MonITER (Incineration Monitoring on the Emilia-Romagna Territory), in 8 areas characterized by the presence of municipal waste incinerating plants.The project was divided into 7 lines, among these the number 6 developed a procedure of Health Impact Assessments (HIA) to support the planning of new facilities for incineration or combustion. Line number 6 is divided into 3 actions action 1 aimed to developing and validating a participative HIA methodology, as well tools for the impact assessment and recommendations for implementing HIA on future plants; action 2 analysed connected issues on communication; action 3 was focused to developing a methodology for integrating HIA models into existing tools for mandatory impact assessment.Tailoring the HIA model development to the waste management context has highlighted the fundamental differences of the HIA approach with the other mandatory assessment tools, being theoretically founded on the principles of public involvement, equity, sustainable development and ethical use of evidence.Il Progetto Moniter della Regione Emilia-Romagna (delibera 466/2007) ha realizzato un sistema di sorveglianza ambientale e di valutazione epidemiologica nelle aree circostanti gli otto inceneritori di rifiuti urbani della regione. Il progetto ? articolato in sette linee progettuali (LP). La LP6 ha elaborato un percorso di Valutazione di impatto sulla salute (VIS) applicabile alla pianificazione di impianti di incenerimento o combustione di futura realizzazione. Essa si articola in 3 azioni: l\u27azione 1 ha condotto una specifica ricerca di materiali e metodi finalizzata alla stesura e validazione di una procedura di VIS partecipativa, degli strumenti di supporto al processo di valutazione e delle raccomandazioni per l\u27applicazione della VIS a futuri impianti; l\u27azione 2 ha approfondito l\u27analisi della comunicazione; l\u27azione 3 si ? occupata dell\u27elaborazione di modelli per l\u27integrazione della VIS nelle altre forme di valutazione esistenti nel territorio. Analizzando il tema dei rifiuti ? emerso con forza che la novit? della VIS rispetto alle altre valutazioni normate risiede nell\u27applicazione dei valori di fondo che la ispirano: partecipazione pubblica, equit?, sviluppo sostenibile e uso etico delle prove scientifiche

Oxidative Degradation of Trichloroethylene over Fe2O3-doped Mayenite: Chlorine Poisoning Mitigation and Improved Catalytic Performance

[EN] Mayenite was recently successfully employed as an active catalyst for trichloroethylene (TCE) oxidation. It was effective in promoting the conversion of TCE in less harmful products (CO2 and HCl) with high activity and selectivity. However, there is a potential limitation to the use of mayenite in the industrial degradation of chlorinated compounds-its limited operating lifespan owing to chlorine poisoning of the catalyst. To overcome this problem, in this work, mayenite-based catalysts loaded with iron (Fe/mayenite) were prepared and tested for TCE oxidation in a gaseous phase. The catalysts were characterized using different physico-chemical techniques, including XRD, ICP, N-2-sorption (BET), H-2-TPR analysis, SEM-EDX, XPS FESEM-EDS, and Raman. Fe/mayenite was found to be more active and stable than the pure material for TCE oxidation, maintaining the same selectivity. This result was interpreted as the synergistic effect of the metal and the oxo-anionic species present in the mayenite framework, thus promoting TCE oxidation, while avoiding catalyst deactivation.This work was supported by the grants ORSA167988 and ORSA174250 funded by the University of Salerno. AEP and JLC thank the Spanish Ministry of Economy and Competitiveness through RTI2018-101784-B-I00 and SEV-2016-0683 for the financial support. J.L. Cerrillo wishes to thank the Spanish Ministry of Economy and Competitiveness for the Severo Ochoa PhD fellowship (SVP-2014-068600).Cucciniello, R.; Intiso, A.; Siciliano, T.; Palomares Gimeno, AE.; Martínez-Triguero, J.; Cerrillo, JL.; Proto, A.... (2019). Oxidative Degradation of Trichloroethylene over Fe2O3-doped Mayenite: Chlorine Poisoning Mitigation and Improved Catalytic Performance. Catalysts. 9(9):1-13. https://doi.org/10.3390/catal9090747S11399Rossi, F., Cucciniello, R., Intiso, A., Proto, A., Motta, O., & Marchettini, N. (2015). 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Journal of Hazardous Materials, 190(1-3), 903-908. doi:10.1016/j.jhazmat.2011.04.007Cucciniello, R., Proto, A., Rossi, F., Marchettini, N., & Motta, O. (2015). An improved method for BTEX extraction from charcoal. Analytical Methods, 7(11), 4811-4815. doi:10.1039/c5ay00828jIntiso, A., Miele, Y., Marchettini, N., Proto, A., Sánchez-Domínguez, M., & Rossi, F. (2018). Enhanced solubility of trichloroethylene (TCE) by a poly-oxyethylene alcohol as green surfactant. Environmental Technology & Innovation, 12, 72-79. doi:10.1016/j.eti.2018.08.001Garza‐Arévalo, J. I., Intiso, A., Proto, A., Rossi, F., & Sanchez‐Dominguez, M. (2019). Trichloroethylene solubilization using a series of commercial biodegradable ethoxylated fatty alcohol surfactants. Journal of Chemical Technology & Biotechnology, 94(11), 3523-3529. doi:10.1002/jctb.5965Aranzabal, A., Pereda-Ayo, B., González-Marcos, M., González-Marcos, J., López-Fonseca, R., & González-Velasco, J. (2014). State of the art in catalytic oxidation of chlorinated volatile organic compounds. Chemical Papers, 68(9). doi:10.2478/s11696-013-0505-7Li, D., Li, C., & Suzuki, K. (2013). Catalytic oxidation of VOCs over Al- and Fe-pillared montmorillonite. Applied Clay Science, 77-78, 56-60. doi:10.1016/j.clay.2013.02.027Tian, W., Fan, X., Yang, H., & Zhang, X. (2010). Preparation of MnOx/TiO2 composites and their properties for catalytic oxidation of chlorobenzene. Journal of Hazardous Materials, 177(1-3), 887-891. doi:10.1016/j.jhazmat.2009.12.116Blanch-Raga, N., Palomares, A. E., Martínez-Triguero, J., Puche, M., Fetter, G., & Bosch, P. (2014). The oxidation of trichloroethylene over different mixed oxides derived from hydrotalcites. Applied Catalysis B: Environmental, 160-161, 129-134. doi:10.1016/j.apcatb.2014.05.014Taralunga, M., Mijoin, J., & Magnoux, P. (2006). Catalytic destruction of 1,2-dichlorobenzene over zeolites. 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Applied Catalysis B: Environmental, 204, 167-172. doi:10.1016/j.apcatb.2016.11.035Intiso, A., Martinez-Triguero, J., Cucciniello, R., Proto, A., Palomares, A. E., & Rossi, F. (2019). A Novel Synthetic Route to Prepare High Surface Area Mayenite Catalyst for TCE Oxidation. Catalysts, 9(1), 27. doi:10.3390/catal9010027Intiso, A., Martinez-Triguero, J., Cucciniello, R., Rossi, F., & Palomares, A. E. (2019). Influence of the synthesis method on the catalytic activity of mayenite for the oxidation of gas-phase trichloroethylene. Scientific Reports, 9(1). doi:10.1038/s41598-018-36708-2Proto, A., Cucciniello, R., Rossi, F., & Motta, O. (2013). Stable carbon isotope ratio in atmospheric CO2 collected by new diffusive devices. Environmental Science and Pollution Research, 21(4), 3182-3186. doi:10.1007/s11356-013-2369-3Eufinger, J.-P., Schmidt, A., Lerch, M., & Janek, J. (2015). Novel anion conductors – conductivity, thermodynamic stability and hydration of anion-substituted mayenite-type cage compounds C12A7:X (X = O, OH, Cl, F, CN, S, N). Physical Chemistry Chemical Physics, 17(10), 6844-6857. doi:10.1039/c4cp05442cSchmidt, A., Lerch, M., Eufinger, J.-P., Janek, J., Tranca, I., Islam, M. M., … Hölzel, M. (2014). Chlorine ion mobility in Cl-mayenite (Ca12Al14O32Cl2): An investigation combining high-temperature neutron powder diffraction, impedance spectroscopy and quantum-chemical calculations. Solid State Ionics, 254, 48-58. doi:10.1016/j.ssi.2013.10.042Teusner, M., De Souza, R. A., Krause, H., Ebbinghaus, S. G., Belghoul, B., & Martin, M. (2015). Oxygen Diffusion in Mayenite. The Journal of Physical Chemistry C, 119(18), 9721-9727. doi:10.1021/jp512863uRuszak, M., Inger, M., Witkowski, S., Wilk, M., Kotarba, A., & Sojka, Z. (2008). Selective N2O Removal from the Process Gas of Nitric Acid Plants Over Ceramic 12CaO · 7Al2O3 Catalyst. 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The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence

Late-onset Pompe disease (LOPD) is characterized by progressive muscle weakness, respiratory muscle dysfunction, and minor cardiac involvement. Although in LOPD, as in other neuromuscular diseases, controlled low impact sub-maximal aerobic exercise and functional ability exercise can improve general functioning and quality of life, as well as respiratory rehabilitation, the bulk of evidence on that is weak and guidelines are lacking. To date, there is no specific focus on rehabilitation issues in clinical recommendations for the care of patients with Pompe disease, and standard practice predominantly follows general recommendation guidelines for neuromuscular diseases. The Italian Association of Myology, the Italian Association of Pulmonologists, the Italian Society of Neurorehabilitation, and the Italian Society of Physical Medicine and Rehabilitation, have endorsed a project to formulate recommendations on practical, technical, and, whenever possible, disease-specific guidance on rehabilitation procedures in LOPD, with specific reference to the Italian scenario. In this first paper, we review available evidence on the role of rehabilitation in LOPD patients, particularly addressing the unmet needs in the management of motor and respiratory function for these patients

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry

OBJECTIVES: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically linked to reduced numbers ( 64 8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases, characterised by an infantile onset and presence of additional extra-muscular features, have been associated with the shortest D4Z4 reduced alleles with 1-3 repeats (1-3 DRA). We searched for signs of perinatal onset and evaluated disease outcome through the systematic collection of clinical and anamnestic records of de novo and familial index cases and their relatives, carrying 1-3 DRA. SETTING: Italy. PARTICIPANTS: 66 index cases and 33 relatives carrying 1-3 DRA. OUTCOMES: The clinical examination was performed using the standardised FSHD evaluation form with validated inter-rater reliability. To investigate the earliest signs of disease, we designed the Infantile Anamnestic Questionnaire (IAQ). Comparison of age at onset was performed using the non-parametric Wilcoxon rank-sum or Kruskal-Wallis test. Comparison of the FSHD score was performed using a general linear model and Wald test. Kaplan-Meier survival analysis was used to estimate the age-specific cumulative motor impairment risk. RESULTS: No patients had perinatal onset. Among index cases, 36 (54.5%) showed the first signs by 10 years of age. The large majority of patients with early disease onset (26 out of 36, 72.2%) were de novo; whereas the majority of patients with disease onset after 10 years of age were familial (16, 53.3%). Comparison of the disease severity outcome between index cases with age at onset before and over 10 years of age, failed to detect statistical significance (Wald test p value=0.064). Of 61 index cases, only 17 (27.9%) presented extra-muscular conditions. Relatives carrying 1-3 DRA showed a large clinical variability ranging from healthy subjects, to patients with severe motor impairment. CONCLUSIONS: The size of the D4Z4 allele is not always predictive of severe clinical outcome. The high degree of clinical variability suggests that additional factors contribute to the phenotype complexity

Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy

Objective: To determine whether a set of functional tests, clinical scales, patient-reported questionnaires, and specific biomarkers can be considered reliable outcome measures in patients with primary mitochondrial myopathy (PMM), we analyzed a cohort of Italian patients. Methods: Baseline data were collected from 118 patients with PMM, followed by centers of the Italian network for mitochondrial diseases. We used the 6-Minute Walk Test (6MWT), Timed Up-and-Go Test (x3) (3TUG), Five-Times Sit-To-Stand Test (5XSST), Timed Water Swallow Test (TWST), and Test of Masticating and Swallowing Solids (TOMASS) as functional outcome measures; the Fatigue Severity Scale and West Haven-Yale Multidimensional Pain Inventory as patient-reported outcome measures; and FGF21, GDF15, lactate, and creatine kinase (CK) as biomarkers. Results: A total of 118 PMM cases were included. Functional outcome measures (6MWT, 3TUG, 5XSST, TWST, and TOMASS) and biomarkers significantly differed from healthy reference values and controls. Moreover, functional measures correlated with patients' perceived fatigue and pain severity. Patients with either mitochondrial or nuclear DNA point mutations performed worse in functional measures than patients harboring single deletion, even if the latter had an earlier age at onset but similar disease duration. Both the biomarkers FGF21 and GDF15 were significantly higher in the patients compared with a matched control population; however, there was no relation with severity of disease. Conclusions: We characterized a large cohort of PMM by evaluating baseline mitochondrial biomarkers and functional scales that represent potential outcome measures to monitor the efficacy of treatment in clinical trials; these outcome measures will be further reinvestigated longitudinally to define the natural history of PMM

Elevated TGF \u3b22 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes

Among rare diseases caused by mutations in LMNA gene, Emery-Dreifuss Muscular Dystrophy type 2 and Limb-Girdle muscular Dystrophy 1B are characterized by muscle weakness and wasting, joint contractures, cardiomyopathy with conduction system disorders. Circulating biomarkers for these pathologies have not been identified. Here, we analyzed the secretome of a cohort of patients affected by these muscular laminopathies in the attempt to identify a common signature. Multiplex cytokine assay showed that transforming growth factor beta 2 (TGF \u3b22) and interleukin 17 serum levels are consistently elevated in the vast majority of examined patients, while interleukin 6 and basic fibroblast growth factor are altered in subgroups of patients. Levels of TGF \u3b22 are also increased in fibroblast and myoblast cultures established from patient biopsies as well as in serum from mice bearing the H222P Lmna mutation causing Emery-Dreifuss Muscular Dystrophy in humans. Both patient serum and fibroblast conditioned media activated a TGF \u3b22-dependent fibrogenic program in normal human myoblasts and tenocytes and inhibited myoblast differentiation. Consistent with these results, a TGF \u3b22 neutralizing antibody avoided fibrogenic marker activation and myogenesis impairment. Cell intrinsic TGF \u3b22-dependent mechanisms were also determined in laminopathic cells, where TGF \u3b22 activated AKT/mTOR phosphorylation. These data show that TGF \u3b22 contributes to the pathogenesis of Emery-Dreifuss Muscular Dystrophy type 2 and Limb-Girdle muscular Dystrophy 1B and can be considered a potential biomarker of those diseases. Further, the evidence of TGF \u3b22 pathogenetic effects in tenocytes provides the first mechanistic insight into occurrence of joint contractures in muscular laminopathies

A PM10 chemically characterised nation-wide dataset for Italy. Geographical influence on urban air pollution and source apportionment

: Urban textures of the Italian cities are peculiarly shaped by the local geography generating similarities among cities placed in different regions but comparable topographical districts. This suggested the following scientific question: can such different topographies generate significant differences on the PM10 chemical composition at Italian urban sites that share similar geography despite being in different regions? To investigate whether such communalities can be found and are applicable at Country-scale, we propose here a novel methodological approach. A dataset comprising season-averages of PM10 mass concentration and chemical composition data was built, covering the decade 2005-2016 and referring to urban sites only (21 cities). Statistical analyses, estimation of missing data, identification of latent clusters and source apportionment modelling by Positive Matrix Factorization (PMF) were performed on this unique dataset. The first original result is the demonstration that a dataset with atypical time resolution can be successfully exploited as an input matrix for PMF obtaining Country-scale representative chemical profiles, whose physical consistency has been assessed by different tests of modelling performance. Secondly, this dataset can be considered a reference repository of season averages of chemical species over the Italian territory and the chemical profiles obtained by PMF for urban Italian agglomerations could contribute to emission repositories. These findings indicate that our approach is powerful, and it could be further employed with datasets typically available in the air pollution monitoring networks

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)

Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The genotype-phenotype correlation has been extensively discussed, and caution is recommended when interpreting the clinical significance of any mutation in a single patient. As there is no evidence that environmental factors can modulate the phenotype, the observed clinical variability in PD suggests that genetic variants other than pathogenic GAA mutations influence the mechanisms of muscle damage/repair and the overall clinical picture. Genes encoding proteins involved in glycogen synthesis and catabolism may represent excellent candidates as phenotypic modifiers of PD. The genes analyzed for glycogen synthesis included UGP2, glycogenin (GYG1-muscle, GYG2, and other tissues), glycogen synthase (GYS1-muscle and GYS2-liver), GBE1, EPM2A, NHLRC1, GSK3A, and GSK3B. The only enzyme involved in glycogen catabolism in lysosomes is alpha-glucosidase, which is encoded by GAA, while two cytoplasmic enzymes, phosphorylase (PYGB-brain, PGL-liver, and PYGM-muscle) and glycogen debranching (AGL) are needed to obtain glucose 1-phosphate or free glucose. Here, we report the potentially relevant variants in genes related to glycogen synthesis and catabolism, identified by whole exome sequencing in a group of 30 patients with late-onset Pompe disease (LOPD). In our exploratory analysis, we observed a reduced number of variants in the genes expressed in muscles versus the genes expressed in other tissues, but we did not find a single variant that strongly affected the phenotype. From our work, it also appears that the current clinical scores used in LOPD do not describe muscle impairment with enough qualitative/quantitative details to correlate it with genes that, even with a slightly reduced function due to genetic variants, impact the phenotype

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients.

Lipomas have often been associated with mtDNA mutations and were mainly observed in patients with mutation in mitochondrial tRNAlysine which is also the most frequent mutation associated with MERRF. Up to date, no systematic studies have been developed in order to assess the incidence of lipomas in large cohorts of mitochondrial patients.The aim of this study is to analyze the incidence and characteristics of lipomas among an Italian cohort of patients with mitochondrial diseases. A retrospective, database-based study (Nation-wide Italian Collaborative Network of Mitochondrial Diseases) of patients with lipomas was performed. A total of 22 (1.7%) patients with lipomas have been identified among the 1,300 mitochondrial patients, enrolled in the Italian database. In about 18% multiple systemic lipomatosis (MSL) was the only clinical manifestation; 54% of patients showed a classical MERRF syndrome. Myopathy, alone or in association with other symptoms, was found in 27% of patients. Lactate was elevated in all the 12 patients in which was measured. Muscle biopsy was available in 18/22 patients: in all of them mitochondrial abnormalities were present. Eighty six percent had mutations in mtDNA coding for tRNA lysine. In most of patients, lipomas were localized along the cervical-cranial-thoracic region. In 68% of the patients were distributed symmetrically. Only two patients had lipomas in a single anatomical site (1 in right arm and 1 in gluteus maximum). MSL is often overlooked by clinicians in patients with mitochondrial diseases where the clinical picture could be dominated by a severe multi-systemic involvement. Our data confirmed that MSL is a rare sign of mitochondrial disease with a strong association between multiple lipomas and lysine tRNA mutations. MSL could be considered, even if rare, a red flag for mitochondrial disorders, even in patients with an apparently isolated MSL

Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey

Objective: Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy. Methods: An online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on the number of patients with SMA subdivided according to age, type, SMN2 copy number, and treatment were collected. Results: One thousand two hundred fifty-five patients with SMA are currently followed in the Italian centers with an estimated prevalence of 2.12/100,000. Of the 1,255, 284 were type I, 470 type II, 467 type III, and 15 type IV with estimated prevalence of 0.48, 0.79, 0.79 and 0.02/100,000, respectively. Three patients with SMA 0 and 16 presymptomatic patients were also included. Approximately 85% were receiving one of the available treatments. The percentage of treated patients decreased with decreasing severity (SMA I: 95.77%, SMA II: 85.11%, SMA III: 79.01%). Discussion: The results provide for the first time an estimate of the prevalence of SMA at the national level and the current distribution of patients treated with the available therapeutical options. These data provide a baseline to assess future changes in relation to the evolving therapeutical scenario