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1. Interplay between spinal cord and cerebral cortex metabolism in amyotrophic lateral sclerosis

Author

Marini Cecilia 1, 2, Morbelli Silvia 2, 3, Cistaro Angelina 4, Campi Cristina 5, Caponnetto Claudia 6, 7, Bauckneht Matteo 3, Bellini Alessandro 3, Buschiazzo Ambra 3, Calamia Iolanda 3, Beltrametti Mauro C 8, Margotti, Simone 4, Fania Piercarlo 4, Poggi Ilaria 6, Cabona Corrado 6, Capitanio Selene 2, Piva Roberta 3, Calvo Andrea 9, Moglia Cristina 9, Canosa Antonio 9, Massone Anna Maria 11, Nobili Flavio 6, Mancardi Gianluigi 6, Chio Adriano 9, Piana Michele 8, and Sambuceti Gianmario 2

Subjects
Adult, Male, Pathology, medicine.medical_specialty, upper motor neuron, amyotrophic lateral sclerosis, neurodegeneration biomarkers, neuroinflammation, neuromuscular disease imaging, Neurology (clinical), Spinal disease, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Fluorodeoxyglucose F18, Cortex (anatomy), medicine, Humans, Amyotrophic lateral sclerosis, Neuroinflammation, Cerebral Cortex, Upper motor neuron, business.industry, Amyotrophic Lateral Sclerosis, Brain, Neuromuscular Diseases, Middle Aged, Spinal cord, medicine.disease, Spine, medicine.anatomical_structure, Spinal Cord, Cerebral cortex, Positron-Emission Tomography, Hypermetabolism, Female, business, 030217 neurology & neurosurgery, Reports
Abstract

Using a computational approach to extract the spinal canal from whole-body PET/CT images, Marini et al. reveal increased glucose consumption in the spinal cord in prospectively recruited patients with amyotrophic lateral sclerosis. Simultaneous measurement of brain 18F-Fluorodeoxyglucose uptake reveals a divergent metabolic response in the two structures., We recently reported the potential of Hough transform in delineating spinal cord metabolism by 18F-fluorodeoxyglucose PET/CT scanning in amyotrophic lateral sclerosis. The present study aimed to verify the relationship between spinal cord and brain metabolism in 44 prospectively recruited patients affected by amyotrophic lateral sclerosis submitted to 18F-fluorodeoxyglucose brain and whole-body PET/CT. Patients were studied to highlight the presence of brain hypo- or hypermetabolism with respect to healthy controls, and multiple regression analysis was performed to evaluate the correlation between spinal cord and brain metabolism. Our results confirmed higher 18F-fluorodeoxyglucose uptake in both cervical and dorsal spinal cord in patients with amyotrophic lateral sclerosis with respect to controls. This finding was paralleled by the opposite pattern in the brain cortex that showed a generalized reduction in tracer uptake. This hypometabolism was particularly evident in wide regions of the frontal-dorsolateral cortex while it did not involve the midbrain. Bulbar and spinal disease onset was associated with similar degree of metabolic activation in the spinal cord. However, among spinal onset patients, upper limb presentation was associated with a more pronounced metabolic activation of cervical segment. Obtained data suggest a differential neuro-pathological state or temporal sequence in disease progression.

Published
2018
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2. HFE p.H63D polymorphism does not influence ALS phenotype and survival

Author

Chiò, Adriano, Mora, Gabriele, Sabatelli, Mario, Caponnetto, Claudia, Lunetta, Christian, Traynor, Bryan J., Johnson, Janel O., Nalls, Mike A., Calvo, Andrea, Moglia, Cristina, Borghero, Giuseppe, La Bella, Vincenzo, Volanti, Paolo, Simone, Isabella, Salvi, Fabrizio, Logullo, Francesco O., Nilo, Riva, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Zollino, Marcella, Conforti, Francesca L., Penco, Silvana, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Logroscino, Giancarlo, Bartolomei, Ilaria, Capasso, Margherita, Mancardi, Gianluigi, Origone, Paola, Marinou, Kalliopi, Sideri, Riccardo, Mosca, Lorena, Pinter, Giuseppe Lauria, Corbo, Massimo, Fini, Nicola, Georgoulopoulou, Eleni, Tremolizzo, Lucio, Piccirillo, Giovanni, Cristillo, Viviana, Spataro, Rossella, Colletti, Tiziana, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Santarelli, Marialuisa, Petrucci, Antonio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Ilardi, Antonio, Bertuzzo, Davide, Pisano, Fabrizio, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Ticca, Anna, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Ortu, Enzo, Cau, Tea B., Loi, Daniela, MONSURRO', Maria Rosaria, TEDESCHI, Gioacchino, TROJSI, Francesca, Chiò, Adriano, Mora, Gabriele, Sabatelli, Mario, Caponnetto, Claudia, Lunetta, Christian, Traynor, Bryan J., Johnson, Janel O., Nalls, Mike A., Calvo, Andrea, Moglia, Cristina, Borghero, Giuseppe, Monsurro', Maria Rosaria, La Bella, Vincenzo, Volanti, Paolo, Simone, Isabella, Salvi, Fabrizio, Logullo, Francesco O., Nilo, Riva, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Zollino, Marcella, Conforti, Francesca L., Penco, Silvana, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Logroscino, Giancarlo, Bartolomei, Ilaria, Capasso, Margherita, Mancardi, Gianluigi, Origone, Paola, Marinou, Kalliopi, Sideri, Riccardo, Mosca, Lorena, Pinter, Giuseppe Lauria, Corbo, Massimo, Fini, Nicola, Georgoulopoulou, Eleni, Tremolizzo, Lucio, Tedeschi, Gioacchino, Trojsi, Francesca, Piccirillo, Giovanni, Cristillo, Viviana, Spataro, Rossella, Colletti, Tiziana, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Santarelli, Marialuisa, Petrucci, Antonio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Ilardi, Antonio, Bertuzzo, Davide, Pisano, Fabrizio, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Ticca, Anna, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Ortu, Enzo, Cau, Tea B., Loi, Daniela, Chio, A, Mora, G, Sabatelli, M, Caponnetto, C, Lunetta, C, Traynor, B, Johnson, J, Nalls, M, Calvo, A, Moglia, C, Borghero, G, Monsurro, M, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, F, Nilo, R, Giannini, F, Mandrioli, J, Tanel, R, Murru, M, Mandich, P, Zollino, M, Conforti, F, Penco, S, Brunetti, M, Barberis, M, Restagno, G, Logroscino, G, Bartolomei, I, Capasso, M, Mancardi, G, Origone, P, Marinou, K, Sideri, R, Mosca, L, Pinter, G, Corbo, M, Fini, N, Georgoulopoulou, E, Tremolizzo, L, Tedeschi, G, Trojsi, F, Piccirillo, G, Cristillo, V, Spataro, R, Colletti, T, Conte, A, Luigetti, M, Lattante, S, Marangi, G, Santarelli, M, Petrucci, A, Battistini, S, Ricci, C, Benigni, M, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Ilardi, A, Bertuzzo, D, Pisano, F, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Ticca, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Ortu, E, Cau, T, and Loi, D

Subjects
Male, Aging, Survival, Settore MED/03 - GENETICA MEDICA, Mice, Superoxide Dismutase-1, C9orf72, HFE polymorphism, Amyotrophic lateral sclerosis, HFE polymorphisms, Phenotype, SOD1, Aged, Alleles, Amyotrophic Lateral Sclerosis, Animals, Disease Progression, Female, Hemochromatosis Protein, Histocompatibility Antigens Class I, Humans, Italy, Membrane Proteins, Middle Aged, Polymorphism, Genetic, Superoxide Dismutase, Survival Rate, Genetic Association Studies, Membrane Protein, Allele, Neurology (clinical), Neuroscience (all), Developmental Biology, Geriatrics and Gerontology, General Neuroscience, phenotype, survival, Human, medicine.medical_specialty, Genetic Association Studie, Biology, TARDBP, Article, Genetic, Internal medicine, medicine, Polymorphism, Survival rate, Amyotrophic lateral sclerosi, Animal, nutritional and metabolic diseases, medicine.disease, Minor allele frequency, Endocrinology, Immunology
Abstract

It has been recently reported that the p.His63Asp polymorphism of the HFE gene accelerates disease progression both in the SOD1 transgenic mouse and in amyotrophic lateral sclerosis (ALS) patients. We have evaluated the effect of HFE p.His63Asp polymorphism on the phenotype in 1351 Italian ALS patients (232 of Sardinian ancestry). Patients were genotyped for the HFE p.His63Asp polymorphism (CC, GC, and GG). All patients were also assessed for C9ORF72, TARDBP, SOD1, and FUS mutations. Of the 1351 ALS patients, 363 (29.2%) were heterozygous (GC) for the p.His63Asp polymorphism and 30 (2.2%) were homozygous for the minor allele (GG). Patients with CC, GC, and GG polymorphisms did not significantly differ by age at onset, site of onset of symptoms, and survival; however, in SOD1 patients with CG or GG polymorphism had a significantly longer survival than those with a CC polymorphism. Differently from what observed in the mouse model of ALS, the HFE p.His63Asp polymorphism has no effect on ALS phenotype in this large series of Italian ALS patients.

Published
2015
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4. A phase I-II multicenter study on G-CSF in amyotrophic lateral sclerosis (STEMALS)

Author

Chib, Adriano, Gabriele Mora, Caponnetto, Claudia, Siciliano, Gabriele, Sabatelli, Mario, La Bella, Vincenzo, Silani, Vincenzo, Moglia, Cristina, Mancardi, Gianluigi, Tonali, Piero, Calvo, Andrea, Mutani, Roberto, Corbo, Massimo, Scime, Rosanna, D Onofrio, Giuseppe, Petrini, Mario, Melazzini, Mario, Gualandi, Francesca, and Tarella, Corrado

7. Long-term Clinical Outcomes of Hematopoietic Stem Cell Transplantation in Multiple Sclerosis

Author

Maria Pia Sormani, Marco Capobianco, Matilde Inglese, Emanuele Angelucci, Rosanna Scimè, Raffaella Greco, Salvatore Cottone, Giancarlo Comi, Antonio Bertolotto, Alessio Signori, Riccardo Saccardi, Luca Massacesi, Lucia Moiola, Jessica Frau, Antonio Uccelli, Marco De Gobbi, Anna Maria Repice, Maria Pia Amato, Fabio Ciceri, Alice Mariottini, G. B. Zimatore, Francesca Gualandi, Gianluigi Mancardi, Giacomo Boffa, Chiara Innocenti, Boffa, Giacomo, Massacesi, Luca, Inglese, Matilde, Mariottini, Alice, Capobianco, Marco, Lucia, Moiola, Amato, Maria Pia, Cottone, Salvatore, Gualandi, Francesca, De Gobbi, Marco, Greco, Raffaella, Scimè, Rosanna, Frau, Jessica, Zimatore, Giovanni Bosco, Bertolotto, Antonio, Comi, Giancarlo, Uccelli, Antonio, Signori, Alessio, Angelucci, Emanuele, Innocenti, Chiara, Ciceri, Fabio, Repice, Anna Maria, Sormani, Maria Pia, Saccardi, Riccardo, and Mancardi, Gianluigi

Subjects
Oncology, 0301 basic medicine, Melphalan, medicine.medical_specialty, Expanded Disability Status Scale, business.industry, Multiple sclerosis, medicine.medical_treatment, Hazard ratio, Hematopoietic stem cell transplantation, medicine.disease, Confidence interval, Term (time), Transplantation, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Internal medicine, Medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Etoposide, medicine.drug
Abstract

ObjectiveTo determine whether autologous hematopoietic stem cell transplantation (aHSCT) is able to induce durable disease remission in people with multiple sclerosis (MS), we analyzed the long-term outcomes after transplantation in a large cohort of patients with MS.MethodsTo be included, a minimum dataset (consisting of age, MS phenotype, Expanded Disability Status Scale [EDSS] score at baseline, information on transplantation technology, and at least 1 follow-up visit after transplantation) was required.ResultsTwo hundred ten patients were included (relapsing-remitting [RR] MS 122 [58%]). Median baseline EDSS score was 6 (1–9); mean follow-up was 6.2 (±5.0) years. Among patients with RRMS, disability worsening–free survival (95% confidence interval [CI]) was 85.5% (76.9%–94.1%) at 5 years and 71.3% (57.8%–84.8%) at 10 years. In patients with progressive MS, disability worsening–free survival was 71.0% (59.4%–82.6%) and 57.2% (41.8%–72.7%) at 5 and 10 years, respectively. In patients with RRMS, EDSS significantly reduced after aHSCT (p = 0.001; mean EDSS change per year −0.09 [95% CI −0.15% to −0.04%]). In patients with RRMS, the use of the BCNU+Etoposide+Ara-C+Melphalan (BEAM) + anti-thymocyte globulin (ATG) conditioning protocol was independently associated with a reduced risk of no evidence of disease activity 3 failure (hazard ratio 0.27 [95% CI 0.14–0.50], p < 0.001). Three patients died within 100 days from aHSCT (1.4%); no deaths occurred in patients transplanted after 2007.ConclusionsaHSCT prevents disability worsening in the majority of patients and induces durable improvement in disability in patients with RRMS. The BEAM + ATG conditioning protocol is associated with a more pronounced suppression of clinical relapses and MRI inflammatory activity.Classification of EvidenceThis study provides Class IV evidence that for people with MS, aHSCT induces durable disease remission in most patients.

Published
2021
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8. Pregnancy in multiple sclerosis women with relapses in the year before conception increases the risk of long-term disability worsening

Author

Emilio Portaccio, Laura Tudisco, Luisa Pastò, Lorenzo Razzolini, Mattia Fonderico, Angelo Bellinvia, Angelo Ghezzi, Pietro Annovazzi, Mauro Zaffaroni, Lucia Moiola, Vittorio Martinelli, Clara Grazia Chisari, Francesco Patti, Gianluigi Mancardi, Carlo Pozzilli, Laura De Giglio, Rocco Totaro, Alessandra Lugaresi, Valeria Di Tommaso, Damiano Paolicelli, Eleonora Cocco, Maria Giovanna Marrosu, Giancarlo Comi, Massimo Filippi, Maria Trojano, Maria Pia Amato, Clara Guaschino, Alessandra Protti, Chiara Spreafico, Raffaella Marazzi, Paola Cavalla, Roberto Bergamaschi, Claudio Solaro, Luisa Maria Caniatti, Maria Rosaria Tola, Franco Granella, Paolo Immovilli, Pasquale Annunziata, Katrin Plewnia, Maria Letizia Bartolozzi, Leonello Guidi, Monica Mazzoni, Giovanna De Luca, Luigina Musu, Salvatore Lo Fermo, Portaccio, Emilio, Tudisco, Laura, Pastò, Luisa, Razzolini, Lorenzo, Fonderico, Mattia, Bellinvia, Angelo, Ghezzi, Angelo, Annovazzi, Pietro, Zaffaroni, Mauro, Moiola, Lucia, Martinelli, Vittorio, Chisari, Clara Grazia, Patti, Francesco, Mancardi, Gianluigi, Pozzilli, Carlo, De Giglio, Laura, Totaro, Rocco, Lugaresi, Alessandra, Di Tommaso, Valeria, Paolicelli, Damiano, Cocco, Eleonora, Marrosu, Maria Giovanna, Comi, Giancarlo, Filippi, Massimo, Trojano, Maria, Amato, Maria Pia, Guaschino, Clara, Protti, Alessandra, Spreafico, Chiara, Marazzi, Raffaella, Cavalla, Paola, Bergamaschi, Roberto, Solaro, Claudio, Caniatti, Luisa Maria, Tola, Maria Rosaria, Granella, Franco, Immovilli, Paolo, Annunziata, Pasquale, Plewnia, Katrin, Bartolozzi, Maria Letizia, Guidi, Leonello, Mazzoni, Monica, De Luca, Giovanna, Musu, Luigina, Fermo, Salvatore Lo, and DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE

Subjects
2019-20 coronavirus outbreak, Pediatrics, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Multiple sclerosis, disability worsening, pregnancy, 03 medical and health sciences, Disability Evaluation, 0302 clinical medicine, Multiple Sclerosis, Relapsing-Remitting, Recurrence, medicine, Humans, Disabled Persons, 030212 general & internal medicine, Pregnancy, business.industry, Long term disability, medicine.disease, Neurology, Italy, Disease Progression, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

none 26 no Background: The influence of pregnancy on long-term disability in multiple sclerosis (MS) is still controversial. Objective: To assess the risk of long-term disability worsening after pregnancy in MS women as compared with a propensity-score (PS) matched group of MS women without pregnancy. Methods: In the setting of the Italian Pregnancy Dataset, MS patients with (pregnancy group (PG)) and without pregnancy (control group (CG)) were recruited. Time to disability worsening on the Expanded Disability Status Scale (EDSS) was assessed through a multivariable Cox regression model. Results: The PS-matching retained 230 PG and 102 CG patients. After a follow-up of 6.5 +/- 3.1 years, disability worsening occurred in 87 (26.2%) women. In the multivariable analysis, disability worsening was associated with pregnancy in women with relapses in the year before conception (adjusted hazard ratio (aHR) = 1.74; 95% confidence interval (CI) 1.06-2.84; p = 0.027), higher EDSS (aHR = 1.39; 95% CI 1.12-1.74; p = 0.003), younger age (aHR = 0.95; 95% CI 0.91-0.99; p = 0.022) and shorter DMD exposure over the follow-up (p < 0.008). Conclusion: Pregnancy in MS women with relapses in the year before conception increases the risk of long-term disability worsening. Our findings underscore the importance of counselling in MS women facing a pregnancy that should be planned after a period of clinical stability, favouring treatment optimization in patients with recent disease activity. mixed Portaccio, Emilio; Tudisco, Laura; Pastò, Luisa; Razzolini, Lorenzo; Fonderico, Mattia; Bellinvia, Angelo; Ghezzi, Angelo; Annovazzi, Pietro; Zaffaroni, Mauro; Moiola, Lucia; Martinelli, Vittorio; Chisari, Clara Grazia; Patti, Francesco; Mancardi, Gianluigi; Pozzilli, Carlo; De Giglio, Laura; Totaro, Rocco; Lugaresi, Alessandra; Di Tommaso, Valeria; Paolicelli, Damiano; Cocco, Eleonora; Marrosu, Maria Giovanna; Comi, Giancarlo; Filippi, Massimo; Trojano, Maria; Amato, Maria Pia Portaccio, Emilio; Tudisco, Laura; Pastò, Luisa; Razzolini, Lorenzo; Fonderico, Mattia; Bellinvia, Angelo; Ghezzi, Angelo; Annovazzi, Pietro; Zaffaroni, Mauro; Moiola, Lucia; Martinelli, Vittorio; Chisari, Clara Grazia; Patti, Francesco; Mancardi, Gianluigi; Pozzilli, Carlo; De Giglio, Laura; Totaro, Rocco; Lugaresi, Alessandra; Di Tommaso, Valeria; Paolicelli, Damiano; Cocco, Eleonora; Marrosu, Maria Giovanna; Comi, Giancarlo; Filippi, Massimo; Trojano, Maria; Amato, Maria Pia

Published
2022

9. Cingulum bundle alterations underlie subjective fatigue in multiple sclerosis

Author

Laura Bonzano, Abitha Murugavel, Matteo Pardini, Giulia Bommarito, Maurizio Bergamino, Antonio Uccelli, Marco Bove, Giampaolo Brichetto, Gianluigi Mancardi, Luca Roccatagliata, Paola Feraco, Pardini, Matteo, Bonzano, Laura, Bergamino, Maurizio, Bommarito, Giulia, Feraco, Paola, Murugavel, Abitha, Bove, Marco, Brichetto, Giampaolo, Uccelli, Antonio, Mancardi, Gianluigi, and Roccatagliata, Luca

Subjects
Adult, Male, medicine.medical_specialty, Audiology, computer.software_genre, Gyrus Cinguli, White matter, Cingulum bundle, Multiple Sclerosis, Relapsing-Remitting, Voxel, Fractional anisotropy, Image Interpretation, Computer-Assisted, medicine, Gyrus cinguli, Humans, Fatigue, Multiple sclerosis, Middle Aged, medicine.disease, diffusion tensor imaging, medicine.anatomical_structure, Diffusion Magnetic Resonance Imaging, Neurology, Female, Neurology (clinical), Psychology, cingulum bundle, Neuroscience, computer, Diffusion MRI, Human
Abstract

Objective: To evaluate the neural basis of subjective fatigue in subjects with multiple sclerosis (MS) using a connectionist framework. Methods: Seventy seven subjects with relapsing–remitting MS were recruited in the study and underwent subjective fatigue evaluations and a diffusion MRI scan. Firstly, local white matter Fractional Anisotropy values were correlated with subjective fatigue scores using a voxel-wise approach. The long-range loss of connectivity due to structural damage in the white matter voxels thus associated with subjective fatigue was then assessed using the Network Modification (NeMo) package. Results: A voxel-wise regression analysis with fatigue scores revealed a significant association between structural damage and fatigue levels in two discrete white matter clusters, both included in the left cingulate bundle. The connectivity analysis revealed that damage in these clusters was associated with loss of structural connectivity in the anterior and medial cingulate cortices, dorsolateral prefrontal areas and in the left caudate. Discussion: Our data point to the cingulum bundle and its projections as the key network involved in subjective fatigue perception in MS. More generally, these results suggest the potential of the connectionist framework to generate coherent models of the neural basis of complex symptomatology in MS.

Published
2014

10. CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

Author

Chiò, A, Mora, G, Sabatelli, M, Caponnetto, C, Traynor, B. J, Johnson, J. O, Nalls, M. A, Calvo, A, Moglia, C, Borghero, G, Monsurrò, M. R, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, F. O, Nilo, R, Battistini, S, Mandrioli, J, Tanel, R, Murru, M. R, Mandich, P, Zollino, M, Conforti, F. L, Brunetti, M, Barberis, M, Restagno, G, Penco, S, Lunetta, C, Giannini, F, Ricci, C, Mancardi, G, Bartolomei, I, Corbo, M, Conte, A, Luigetti, M, Lattante, S, Marangi, G, Ossola, I, Logroscino, G, Tedeschi, G, Pugliatti, M, Pinter, G. L, Glynn, S, Gibbs, J. R, Cammarosano, S, Canosa, A, Manera, U, Bertuzzo, D, Ilardi, A, Marinou, K, Sideri, R, Pisano, F, Spataro, R, Colletti, T, Floris, G, Cannas, A, Piras, V, Marrosu, F, Marrosu, M. G, Parish, L. D, Ticca, A, Pirisi, A, Ortu, E, Cau, T. B, Loi, D, Traccis, S, Fini, N, Georgoulopoulou, E, Casale, F, Marrali, G, Fuda, G, Solamone, P, Maestri, E, Mazzei, R, Cristillo, V, Puddu, R, Costantino, E, Pani, C, Caredda, C, Origone, P, Mosca, L, Capasso, M, Turri, M, Petrucci, A, Tremolizzo, L, Santarelli, M., Chiò, A, Mora, G, Sabatelli, M, Caponnetto, C, Traynor, B, Johnson, J, Nalls, M, Calvo, A, Moglia, C, Borghero, G, Monsurrò, M, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, F, Nilo, R, Battistini, S, Mandrioli, J, Tanel, R, Murru, M, Mandich, P, Zollino, M, Conforti, F, Brunetti, M, Barberis, M, Restagno, G, Penco, S, Lunetta, C, Giannini, F, Ricci, C, Mancardi, G, Bartolomei, I, Corbo, M, Conte, A, Luigetti, M, Lattante, S, Marangi, G, Ossola, I, Logroscino, G, Tedeschi, G, Pugliatti, M, Pinter, G, Glynn, S, Gibbs, J, Cammarosano, S, Canosa, A, Manera, U, Bertuzzo, D, Ilardi, A, Marinou, K, Sideri, R, Pisano, F, Spataro, R, Colletti, T, Floris, G, Cannas, A, Piras, V, Marrosu, F, Marrosu, M, Parish, L, Ticca, A, Pirisi, A, Ortu, E, Cau, T, Loi, D, Traccis, S, Fini, N, Georgoulopoulou, E, Casale, F, Marrali, G, Fuda, G, Solamone, P, Maestri, E, Mazzei, R, Cristillo, V, Puddu, R, Costantino, E, Pani, C, Caredda, C, Origone, P, Mosca, L, Capasso, M, Turri, M, Petrucci, A, Tremolizzo, L, Santarelli, M, Chiò, Adriano, Mora, Gabriele, Sabatelli, Mario, Caponnetto, Claudia, Traynor, Bryan J., Johnson, Janel O., Nalls, Mike A., Calvo, Andrea, Moglia, Cristina, Borghero, Giuseppe, Monsurro', Maria Rosaria, La Bella, Vincenzo, Volanti, Paolo, Simone, Isabella, Salvi, Fabrizio, Logullo, Francesco O., Nilo, Riva, Battistini, Stefania, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Zollino, Marcella, Conforti, Francesca L., Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Penco, Silvana, Lunetta, Christian, Giannini, Fabio, Ricci, Claudia, Mancardi, Gianluigi, Bartolomei, Ilaria, Corbo, Massimo, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Ossola, Irene, Logroscino, Giancarlo, Tedeschi, Gioacchino, Pugliatti, Maura, Pinter, Giuseppe Lauria, Glynn, Shannon, Gibbs, J. Raphael, Cammarosano, Stefania, Canosa, Antonio, Manera, Umberto, Bertuzzo, Davide, Ilardi, Altonio, Marinou, Kalliopi, Sideri, Riccardo, Pisano, Fabrizio, Spataro, Rossella, Colletti, Tiziana, Floris, Gianluca, Cannas, Antonino, Piras, Valeria, Marrosu, Francesco, Marrosu, Maria Giovanna, Parish, Leslie D., Ticca, Anna, Pirisi, Angelo, Ortu, Enzo, Cau, Tea B., Loi, Daniela, Traccis, Sebastiano, Fini, Nicola, Georgoulopoulou, Eleni, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Solamone, Paolina, Maestri, Eleonora, Mazzei, Rosalucia, Cristillo, Viviana, Puddu, Roberta, Costantino, Emanuela, Pani, Carla, Caredda, Carla, Origone, Paola, Mosca, Lorena, Capasso, Margherita, Turri, Mara, Petrucci, Antonio, Tremolizzo, Luico, Santarelli, Marialaura, Chiò, A., Mora, G., Sabatelli, M., Caponnetto, C., Traynor, B., Johnson, J., Nalls, M., Calvo, A., Moglia, C., Borghero, G., Monsurrò, M., LA BELLA, V., Volanti, P., Simone, I., Salvi, F., Logullo, F., Nilo, R., Battistini, S., Mandrioli, J., Tanel, R., Murru, M., Mandich, P., Zollino, M., Conforti, F., Brunetti, M., Barberis, M., Restagno, G., Penco, S., Lunetta, C., Giannini, F., Ricci, C., Mancardi, G., Bartolomei, I., Corbo, M., Conte, A., Luigetti, M., Lattante, S., Marangi, G., Ossola, I., Logroscino, G., Tedeschi, G., Pugliatti, M., Pinter, G., Glynn, S., Gibbs, J., Cammarosano, S., Canosa, A., Manera, U., Bertuzzo, D., Ilardi, A., Marinou, K., Sideri, R., Pisano, F., Spataro, R., Colletti, T., Floris, G., Cannas, A., Piras, V., Marrosu, F., Marrosu, M., Parish, L., Ticca, A., Pirisi, A., Ortu, E., Cau, T., Loi, D., Traccis, S., Fini, N., Georgoulopoulou, E., Casale, F., Marrali, G., Fuda, G., Solamone, P., Maestri, E., Mazzei, R., Cristillo, V., Puddu, R., Costantino, E., Pani, C., Caredda, C., Origone, P., Mosca, L., Capasso, M., Turri, M., Petrucci, A., Tremolizzo, L., and Santarelli, M.

Subjects
Male, Aging, Pediatrics, medicine.medical_specialty, Pathology, Amyotrophic lateral sclerosis, CHCHD10, Familial, Sporadic, Aged, Amyotrophic Lateral Sclerosis, Cohort Studies, Female, Frontotemporal Dementia, Genetic Predisposition to Disease, Humans, Italy, Middle Aged, Mitochondrial Proteins, Genetic Association Studies, Mutation, Genetic Association Studie, Disease, Settore MED/03 - GENETICA MEDICA, medicine.disease_cause, Exon, mental disorders, medicine, Mitochondrial Protein, Dementia, Neurology (clinical), Neuroscience (all), Developmental Biology, Geriatrics and Gerontology, Amyotrophic lateral sclerosi, business.industry, General Neuroscience, medicine.disease, 3. Good health, Cohort, Cohort Studie, business, Human, Frontotemporal dementia, Cohort study
Abstract

Mutations in CHCHD10 have recently been described as a cause of frontotemporal dementia (FTD) comorbid with amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the frequency and clinical characteristics of CHCHD10 mutations in Italian patients diagnosed with familial (n= 64) and apparently sporadic ALS (n= 224). Three apparently sporadic patients were found to carry c.100C>T (p.Pro34Ser) heterozygous variant in the exon 2 of CHCHD10. This mutation had been previously described in 2 unrelated French patients with FTD-ALS. However, our patients had a typical ALS, without evidence of FTD, cerebellar or extrapyramidal signs, or sensorineural deficits. We confirm that CHCHD10 mutations account for ~1% of Italian ALS patients and are a cause of disease in subjects without dementia or other atypical clinical signs.

Published
2015
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