146 results on '"Murru, Maria Rita"'
Search Results
2. Cardiac Abnormalities in Alzheimer Disease: Clinical Relevance Beyond Pathophysiological Rationale and Instrumental Findings?
- Author
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Sanna, Giuseppe D., Nusdeo, Giuseppe, Piras, Maria Rita, Forteleoni, Antonietta, Murru, Maria Rita, Saba, Pier Sergio, Dore, Simone, Sotgiu, Giovanni, Parodi, Guido, and Ganau, Antonello
- Published
- 2019
- Full Text
- View/download PDF
3. The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations
- Author
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Canosa, A, Calvo, A, Mora, G, Moglia, C, Brunetti, M, Barberis, M, Borghero, G, Caponnetto, C, Trojsi, F, Spataro, R, Volanti, P, Simone, I, Salvi, F, Logullo, F, Riva, N, Tremolizzo, L, Giannini, F, Mandrioli, J, Tanel, R, Murru, M, Mandich, P, Conforti, F, Zollino, M, Sabatelli, M, Tarlarini, C, Lunetta, C, Mazzini, L, D'Alfonso, S, Guy, N, Meininger, V, Clavelou, P, Camu, W, Chiò, A, Canosa, Antonio, Calvo, Andrea, Mora, Gabriele, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Borghero, Giuseppe, Caponnetto, Claudia, Trojsi, Francesca, Spataro, Rossella, Volanti, Paolo, Simone, Isabella Laura, Salvi, Fabrizio, Logullo, Francesco Ottavio, Riva, Nilo, Tremolizzo, Lucio, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Conforti, Francesca Luisa, Zollino, Marcella, Sabatelli, Mario, Tarlarini, Claudia, Lunetta, Christian, Mazzini, Letizia, D'Alfonso, Sandra, Guy, Nathalie, Meininger, Vincent, Clavelou, Pierre, Camu, William, Chiò, Adriano, Canosa, A, Calvo, A, Mora, G, Moglia, C, Brunetti, M, Barberis, M, Borghero, G, Caponnetto, C, Trojsi, F, Spataro, R, Volanti, P, Simone, I, Salvi, F, Logullo, F, Riva, N, Tremolizzo, L, Giannini, F, Mandrioli, J, Tanel, R, Murru, M, Mandich, P, Conforti, F, Zollino, M, Sabatelli, M, Tarlarini, C, Lunetta, C, Mazzini, L, D'Alfonso, S, Guy, N, Meininger, V, Clavelou, P, Camu, W, Chiò, A, Canosa, Antonio, Calvo, Andrea, Mora, Gabriele, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Borghero, Giuseppe, Caponnetto, Claudia, Trojsi, Francesca, Spataro, Rossella, Volanti, Paolo, Simone, Isabella Laura, Salvi, Fabrizio, Logullo, Francesco Ottavio, Riva, Nilo, Tremolizzo, Lucio, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Conforti, Francesca Luisa, Zollino, Marcella, Sabatelli, Mario, Tarlarini, Claudia, Lunetta, Christian, Mazzini, Letizia, D'Alfonso, Sandra, Guy, Nathalie, Meininger, Vincent, Clavelou, Pierre, Camu, William, and Chiò, Adriano
- Abstract
Background: Data from published studies about the effect of HFE polymorphisms on ALS risk, phenotype, and survival are still inconclusive. We aimed at evaluating whether the p.H63D polymorphism is a modifier of phenotype and survival in SOD1-mutated patients. Methods: We included 183 SOD1-mutated ALS patients. Mutations were classified as severe or mild according to the median survival of the study population. Patients were screened for the HFE p.H63D polymorphism. Survival was calculated using the Kaplan–Meier modeling, and differences were measured by the log-rank test. Multivariable analysis was performed with the Cox proportional hazards model (stepwise backward). Results: SOD1 severe mutation carriers show more frequent familial history for ALS and shorter survival compared to mild mutation carriers. Carriers and non-carriers of the p.H63D polymorphism did not differ in terms of sex ratio, frequency of positive familial history, age at onset, and bulbar/spinal ratio. In univariate and in Cox multivariable analysis using sex, age at onset, site of onset, family history, country of origin, and mutation severity as covariates, p.H63D carriers had a longer survival (p = 0.034 and p = 0.004). Conclusions: We found that SOD1-mutated ALS patients carrying the p.H63D HFE polymorphism have a longer survival compared to non-carriers, independently of sex, age and site of onset, family history, nation of origin, and severity of mutations, suggesting a possible role as disease progression modifier for the p.H63D HFE polymorphism in SOD1-ALS.
- Published
- 2023
4. The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations
- Author
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Canosa, Antonio, Calvo, Andrea, Mora, Gabriele, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Borghero, Giuseppe, Caponnetto, Claudia, Trojsi, Francesca, Spataro, Rossella, Volanti, Paolo, Simone, Isabella Laura, Salvi, Fabrizio, Logullo, Francesco Ottavio, Riva, Nilo, Tremolizzo, Lucio, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Conforti, Francesca Luisa, Zollino, Marcella, Sabatelli, Mario, Tarlarini, Claudia, Lunetta, Christian, Mazzini, Letizia, D'Alfonso, Sandra, Guy, Nathalie, Meininger, Vincent, Clavelou, Pierre, Camu, William, Chiò, Adriano, On Behalf Of Italsgen Consortium, Null, Zollino, Marcella (ORCID:0000-0003-4871-9519), Sabatelli, Mario (ORCID:0000-0001-6635-4985), Canosa, Antonio, Calvo, Andrea, Mora, Gabriele, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Borghero, Giuseppe, Caponnetto, Claudia, Trojsi, Francesca, Spataro, Rossella, Volanti, Paolo, Simone, Isabella Laura, Salvi, Fabrizio, Logullo, Francesco Ottavio, Riva, Nilo, Tremolizzo, Lucio, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Conforti, Francesca Luisa, Zollino, Marcella, Sabatelli, Mario, Tarlarini, Claudia, Lunetta, Christian, Mazzini, Letizia, D'Alfonso, Sandra, Guy, Nathalie, Meininger, Vincent, Clavelou, Pierre, Camu, William, Chiò, Adriano, On Behalf Of Italsgen Consortium, Null, Zollino, Marcella (ORCID:0000-0003-4871-9519), and Sabatelli, Mario (ORCID:0000-0001-6635-4985)
- Abstract
Background: Data from published studies about the effect of HFE polymorphisms on ALS risk, phenotype, and survival are still inconclusive. We aimed at evaluating whether the p.H63D polymorphism is a modifier of phenotype and survival in SOD1-mutated patients. Methods: We included 183 SOD1-mutated ALS patients. Mutations were classified as severe or mild according to the median survival of the study population. Patients were screened for the HFE p.H63D polymorphism. Survival was calculated using the Kaplan-Meier modeling, and differences were measured by the log-rank test. Multivariable analysis was performed with the Cox proportional hazards model (stepwise backward). Results: SOD1 severe mutation carriers show more frequent familial history for ALS and shorter survival compared to mild mutation carriers. Carriers and non-carriers of the p.H63D polymorphism did not differ in terms of sex ratio, frequency of positive familial history, age at onset, and bulbar/spinal ratio. In univariate and in Cox multivariable analysis using sex, age at onset, site of onset, family history, country of origin, and mutation severity as covariates, p.H63D carriers had a longer survival (p = 0.034 and p = 0.004). Conclusions: We found that SOD1-mutated ALS patients carrying the p.H63D HFE polymorphism have a longer survival compared to non-carriers, independently of sex, age and site of onset, family history, nation of origin, and severity of mutations, suggesting a possible role as disease progression modifier for the p.H63D HFE polymorphism in SOD1-ALS.
- Published
- 2023
5. Charcot–Marie–Tooth disease: genetic subtypes in the Sardinian population
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Lorefice, Lorena, Murru, Maria Rita, Coghe, Giancarlo, Fenu, Giuseppe, Corongiu, Daniela, Frau, Jessica, Tranquilli, Stefania, Tacconi, Paolo, Vannelli, Alessandro, Marrosu, Giovanni, Mamusa, Elena, Cocco, Eleonora, and Marrosu, Maria Giovanna
- Published
- 2017
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6. C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson’s disease complicated by psychosis or dementia in a Sardinian population
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Cannas, Antonino, Solla, Paolo, Borghero, Giuseppe, Floris, Gian Luca, Chio, Adriano, Mascia, Marcello Mario, Modugno, Nicola, Muroni, Antonella, Orofino, Gianni, Di Stefano, Francesca, Calvo, Andrea, Moglia, Cristina, Restagno, Gabriella, Meloni, Mario, Farris, Rita, Ciaccio, Daniela, Puddu, Roberta, Vacca, Melisa Iris, Melis, Rosanna, Murru, Maria Rita, Tranquilli, Stefania, Corongiu, Daniela, Rolesu, Marcella, Cuccu, Stefania, Marrosu, Maria Giovanna, and Marrosu, Francesco
- Published
- 2015
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7. Epidemiology of Huntington's disease in Sardinia, Italy
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Muroni, Antonella, Murru, Maria Rita, Ulgheri, Lucia, Sechi, Maria Margherita, Ercoli, Tommaso, Marrosu, Francesco, Scaglione, Cesa, Bentivoglio, Anna Rita, Petracca, Martina, Soliveri, Paola, Cocco, Eleonora, Cuccu, Stefania, Deriu, Marcello, Zuccato, Chiara, and Defazio, Giovanni
- Published
- 2021
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8. Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: Importance of G2019S and R1441C mutations in sporadic Parkinson's disease patients
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Floris, Gianluca, Cannas, Antonino, Solla, Paolo, Murru, Maria Rita, Tranquilli, Stefania, Corongiu, Daniela, Rolesu, Marcella, Cuccu, Stefania, Sardu, Claudia, Marrosu, Francesco, and Marrosu, Maria Giovanna
- Published
- 2009
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9. TBK1 is associated with ALS and ALS-FTD in Sardinian patients
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Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Capasso, Margherita, Caponnetto, Claudia, Mandich, Paolo, Mancardi, Gianluigi, Origone, Paola, Conforti, Francesca L., Vita, Giuseppe, Messina, Sonia, Russo, Massimo, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Lunetta, Christian, Penco, Silvana, Mosca, Lorena, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Tremolizzo, Lucio, Ferrarese, Carlo, Fini, Nicola, Fasano, Antonio, Monsurrò, Maria Rosaria, Tedeschi, Gioacchino, Trojsi, Francesca, Piccirillo, Giovanni, Cristillo, Viviana, Mazzini, Letizia, D'Alfonso, Sandra, Bersano, Anna, Corrado, Lucia, Bagarotti, Alessandra, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Santarelli, Marialuisa, Petrucci, Antonio, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Ilardi, Antonio, Bertuzzo, Davide, Tanel, Raffaella, Pisano, Fabrizio, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Pirisi, Angelo, Parish, Leslie D., Ortu, Enzo, Borghero, Giuseppe, Pugliatti, Maura, Marrosu, Francesco, Marrosu, Maria Giovanna, Murru, Maria Rita, Floris, Gianluca, Cannas, Antonino, Occhineri, Patrizia, Cau, Tea B., Loi, Daniela, Ticca, Anna, Traccis, Sebastiano, Manera, Umberto, Canosa, Antonio, Moglia, Cristina, Calvo, Andrea, Barberis, Marco, Brunetti, Maura, Gibbs, J. Raphael, Renton, Alan E., Errichiello, Edoardo, Zoledziewska, Magdalena, Mulas, Antonella, Qian, Yong, Din, Jun, Pliner, Hannah A., Traynor, Bryan J., and Chiò, Adriano
- Published
- 2016
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10. ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion
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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, Trojsi, Francesca, La Bella, Vincenzo, Volanti, Paolo, Simone, Isabella, Salvi, Fabrizio, Logullo, Francesco O., Riva, Nilo, Carrera, Paola, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Capasso, Margherita, Tremolizzo, Lucio, Battistini, Stefania, Murru, Maria Rita, Origone, Paola, Zollino, Marcella, Penco, Silvana, Mazzini, Letizia, D'Alfonso, Sandra, Restagno, Gabriella, Brunetti, Maura, Barberis, Marco, and Conforti, Francesca L.
- Published
- 2016
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11. The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms
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Cannas, Antonino, Borghero, Giuseppe, Floris, Gian Luca, Solla, Paolo, Chiò, Adriano, Traynor, Bryan J., Calvo, Andrea, Restagno, Gabriella, Majounie, Elisa, Costantino, Emanuela, Piras, Valeria, Lavra, Loredana, Pani, Carla, Orofino, Gianni, Di Stefano, Francesca, Tacconi, Paolo, Mascia, Marcello Mario, Muroni, Antonella, Murru, Maria Rita, Tranquilli, Stefania, Corongiu, Daniela, Rolesu, Marcella, Cuccu, Stefania, Marrosu, Francesco, and Marrosu, Maria Giovanna
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- 2013
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12. Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charlote-Marie-Tooth and distal hereditary motor neuropathy
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Solla, Paolo, Vannelli, Alessandro, Bolino, Alessandra, Marrosu, Giovanni, Coviello, Silvia, Murru, Maria Rita, Tranquilli, Stefania, Corongiu, Daniela, Benedetti, Sara, and Marrosu, Maria Giovanna
- Subjects
Charcot-Marie-Tooth disease -- Genetic aspects ,Charcot-Marie-Tooth disease -- Causes of ,Charcot-Marie-Tooth disease -- Research ,Heat shock proteins -- Identification and classification ,Heat shock proteins -- Physiological aspects ,Heat shock proteins -- Genetic aspects ,Heat shock proteins -- Research ,Gene mutations -- Demographic aspects ,Gene mutations -- Research ,Health ,Psychology and mental health - Published
- 2010
13. Prevalence of Huntington's disease in Southern Sardinia, Italy
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Muroni, Antonella, Murru, Maria Rita, Sechi, Margherita, Ercoli, Tommaso, Marrosu, Francesco, Bentivoglio, Anna Rita, Petracca, Martina, Maria Scaglione, Cesa Lorella, Soliveri, Paola, Cocco, Eleonora, Pedron, Monica, Murgia, Moreno, Deriu, Marcello, Cuccu, Stefania, Ulgheri, Lucia, Zuccato, Chiara, and Defazio, Giovanni
- Published
- 2020
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14. C9ORF72 repeat expansion and bipolar disorder – is there a link? No mutation detected in a Sardinian cohort of patients with bipolar disorder
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Floris, Gianluca, Di Stefano, Francesca, Pisanu, Claudia, Chillotti, Caterina, Murru, Maria Rita, Congiu, Donatella, Cuccu, Stefania, Ruiu, Elisa, Borghero, Giuseppe, Cannas, Antonino, Marrosu, Maria Giovanna, Marrosu, Francesco, Del Zompo, Maria, and Squassina, Alessio
- Published
- 2014
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15. Genetic counselling in ALS: facts, uncertainties and clinical suggestions
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Chiò, Adriano, Battistini, Stefania, Calvo, Andrea, Caponnetto, Claudia, Conforti, Francesca L, Corbo, Massimo, Giannini, Fabio, Mandrioli, Jessica, Mora, Gabriele, Sabatelli, Mario, Monsurrò, Maria Rosaria, Tedeschi, Gioacchino, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Volanti, Paolo, Marinou, Kalliopi, Papetti, Laura, Lunetta, Christian, Pintor, Giuseppe Lauria, Salvi, Fabrizio, Bartolomei, Ilaria, Quattrone, Aldo, Gambardella, Antonio, Logroscino, Giancarlo, Simone, Isabella, Pisano, Fabrizio, Spataro, Rossella, La Bella, Vincenzo, Colletti, Tiziana, Mancardi, Gianluigi, Origone, Paola, Sola, Patrizia, Borghero, Giuseppe, Marrosu, Francesco, Marrosu, Maria Giovanna, Murru, Maria Rita, Floris, Gianluca, Cannas, Antonino, Piras, Valeria, Costantino, Emanuela, Pani, Carla, Sotgiu, Maria Alessandra, Pugliatti, Maura, Parish, Leslie D., Cossu, Paola, Ticca, Anna, Rodolico, Carmelo, Portaro, Simona, Ricci, Claudia, Moglia, Cristina, Ossola, Irene, Brunetti, Maura, Barberis, Marco, Canosa, Antonio, Cammarosano, Stefania, Bertuzzo, Davide, Fuda, Giuseppe, Ilardi, Antonio, Manera, Umberto, Pastore, Ilaria, Sproviero, William, Logullo, Francesco, Tanel, Raffaella, Ajmone, Clara, Mastro, Enza, Pain, Debora, Mandich, Paola, Penco, Silvana, Restagno, Gabriella, Zollino, Marcella, and Surbone, Antonella
- Published
- 2014
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16. HFE p.H63D polymorphism does not influence ALS phenotype and survival
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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, Monsurrò, 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, and Restagno, Gabriella
- Published
- 2015
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17. ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry
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Borghero, Giuseppe, Pugliatti, Maura, Marrosu, Francesco, Marrosu, Maria Giovanna, Murru, Maria Rita, Floris, Gianluca, Cannas, Antonino, Parish, Leslie D., Cau, Tea B., Loi, Daniela, Ticca, Anna, Traccis, Sebastiano, Manera, Umberto, Canosa, Antonio, Moglia, Cristina, Calvo, Andrea, Barberis, Marco, Brunetti, Maura, Renton, Alan E., Nalls, Mike A., Traynor, Bryan J., Restagno, Gabriella, and Chiò, Adriano
- Published
- 2015
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18. CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients
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Chiò, Adriano, Mora, Gabriele, Sabatelli, Mario, Caponnetto, Claudia, Traynor, Bryan J., Johnson, Janel O., Nalls, Mike A., Calvo, Andrea, Moglia, Cristina, Borghero, Giuseppe, Monsurrò, 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, and Lunetta, Christian
- Published
- 2015
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19. Erratum to: Charcot−Marie−Tooth disease: genetic subtypes in the Sardinian population
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Lorefice, Lorena, Murru, Maria Rita, Coghe, Giancarlo, Fenu, Giuseppe, Corongiu, Daniela, Frau, Jessica, Tranquilli, Stefania, Tacconi, Paolo, Vannelli, Alessandro, Marrosu, Giovanni, Mamusa, Elena, Cocco, Eleonora, and Marrosu, Maria Giovanna
- Published
- 2017
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20. Interaction of loci within the HLA region influences multiple sclerosis course in the Sardinian population
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Marrosu, Maria Giovanna, Cocco, Eleonora, Costa, Gianna, Murru, Maria Rita, Mancosu, Cristina, Murru, Raffaele, Lai, Marina, Sardu, Claudia, and Contu, Paolo
- Subjects
Sardinia -- Health aspects ,Multiple sclerosis -- Causes of ,Multiple sclerosis -- Diagnosis ,Multiple sclerosis -- Care and treatment ,Multiple sclerosis -- Genetic aspects ,Health - Published
- 2006
21. PTPRC (CD45) C77G mutation does not contribute to multiple sclerosis susceptibility in Sardinian patients
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Cocco, Eleonora, Murru, Maria Rita, Melis, Cristina, Schirru, Lucia, Solla, Elisabetta, Lai, Marina, Rolesu, Marcella, and Marrosu, Maria Giovanna
- Published
- 2004
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22. Lack of evidence for a role of the myelin basic protein gene in multiple sclerosis susceptibility in Sardinian patients
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Cocco, Eleonora, Mancosu, Cristina, Fadda, Elisabetta, Murru, Maria Rita, Costa, Gianna, Murru, Raffaele, and Marrosu, Maria Giovanna
- Published
- 2002
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23. Genetic architecture of ALS in Sardinia
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Borghero, Giuseppe, Pugliatti, Maura, Marrosu, Francesco, Marrosu, Maria Giovanna, Murru, Maria Rita, Floris, Gianluca, Cannas, Antonino, Parish, Leslie D., Occhineri, Patrizia, Cau, Tea B., Loi, Daniela, Ticca, Anna, Traccis, Sebastiano, Manera, Umberto, Canosa, Antonio, Moglia, Cristina, Calvo, Andrea, Barberis, Marco, Brunetti, Maura, Pliner, Hannah A., Renton, Alan E., Nalls, Mike A., Traynor, Bryan J., Restagno, Gabriella, and Chiò, Adriano
- Published
- 2014
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24. ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations
- Author
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Chiò, Adriano, Restagno, Gabriella, Brunetti, Maura, Ossola, Irene, Calvo, Andrea, Canosa, Antonio, Moglia, Cristina, Floris, Gianluca, Tacconi, Paolo, Marrosu, Francesco, Marrosu, Maria Giovanna, Murru, Maria Rita, Majounie, Elisa, Renton, Alan E, Abramzon, Yvegeniya, Pugliatti, Maura, Sotgiu, Maria Alessandra, Traynor, Bryan J, and Borghero, Giuseppe
- Published
- 2012
- Full Text
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25. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
- Author
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Chiò, Adriano, Borghero, Giuseppe, Restagno, Gabriella, Mora, Gabriele, Drepper, Carsten, Traynor, Bryan J., Sendtner, Michael, Brunetti, Maura, Ossola, Irene, Calvo, Andrea, Pugliatti, Maura, Sotgiu, Maria Alessandra, Murru, Maria Rita, Marrosu, Maria Giovanna, Marrosu, Francesco, Marinou, Kalliopi, Mandrioli, Jessica, Sola, Patrizia, Caponnetto, Claudia, Mancardi, Gianluigi, Mandich, Paola, La Bella, Vincenzo, Spataro, Rossella, Conte, Amelia, Monsurrò, Maria Rosaria, Tedeschi, Gioacchino, Pisano, Fabrizio, Bartolomei, Ilaria, Salvi, Fabrizio, Lauria Pinter, Giuseppe, Simone, Isabella, Logroscino, Giancarlo, Gambardella, Antonio, Quattrone, Aldo, Lunetta, Christian, Volanti, Paolo, Zollino, Marcella, Penco, Silvana, Battistini, Stefania, Renton, Alan E., Majounie, Elisa, Abramzon, Yevgeniya, Conforti, Francesca Luisa, Giannini, Fabio, Corbo, Massimo, and Sabatelli, Mario
- Published
- 2012
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26. Large Proportion of Amyotrophic Lateral Sclerosis Cases in Sardinia Due to a Single Founder Mutation of the TARDBP Gene
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Chiò, Adriano, Borghero, Giuseppe, Pugliatti, Maura, Ticca, Anna, Calvo, Andrea, Moglia, Cristina, Mutani, Roberto, Brunetti, Maura, Ossola, Irene, Marrosu, Maria Giovanna, Murru, Maria Rita, Floris, Gianluca, Cannas, Antonino, Parish, Leslie D., Cossu, Paola, Abramzon, Yevgeniya, Johnson, Janel O., Nalls, Michael A., Arepalli, Sampath, Chong, Sean, Hernandez, Dena G., Traynor, Bryan J., and Restagno, Gabriella
- Published
- 2011
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27. Amyotrophic Lateral Sclerosis–Frontotemporal Lobar Dementia in 3 Families With p.Ala382Thr TARDBP Mutations
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Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Restagno, Gabriella, Ossola, Irene, Brunetti, Maura, Montuschi, Anna, Cistaro, Angelina, Ticca, Anna, Traynor, Bryan J., Schymick, Jennifer C., Mutani, Roberto, Marrosu, Maria Giovanna, Murru, Maria Rita, and Borghero, Giuseppe
- Published
- 2010
28. Dissection of the HLA association with multiple sclerosis in the founder isolated population of Sardinia
- Author
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Marrosu, Maria Giovanna, Murru, Raffaele, Murru, Maria Rita, Costa, Gianna, Zavattari, Patrizia, Whalen, Michael, Cocco, Eleonora, Mancosu, Cristina, Schirru, Lucia, Solla, Elisabetta, Fadda, Elisabetta, Melis, Cristina, Porru, Ilaria, Rolesu, Marcella, and Cucca, Francesco
- Published
- 2001
29. C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population
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Sabatelli, Mario, Conforti, Francesca Luisa, Zollino, Marcella, Mora, Gabriele, Monsurrò, Maria Rosaria, Volanti, Paolo, Marinou, Kalliopi, Salvi, Fabrizio, Corbo, Massimo, Giannini, Fabio, Battistini, Stefania, Penco, Silvana, Lunetta, Christian, Quattrone, Aldo, Gambardella, Antonio, Logroscino, Giancarlo, Simone, Isabella, Bartolomei, Ilaria, Pisano, Fabrizio, Tedeschi, Gioacchino, Conte, Amelia, Spataro, Rossella, La Bella, Vincenzo, Caponnetto, Claudia, Mancardi, Gianluigi, Mandich, Paola, Sola, Patrizia, Mandrioli, Jessica, Renton, Alan E., Majounie, Elisa, Abramzon, Yevgeniya, Marrosu, Francesco, Marrosu, Maria Giovanna, Murru, Maria Rita, Sotgiu, Maria Alessandra, Pugliatti, Maura, Rodolico, Carmelo, Moglia, Cristina, Calvo, Andrea, Ossola, Irene, Brunetti, Maura, Traynor, Bryan J., Borghero, Giuseppe, Restagno, Gabriella, and Chiò, Adriano
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- 2012
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30. Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
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Johnson, Janel O., Mandrioli, Jessica, Benatar, Michael, Abramzon, Yevgeniya, Van Deerlin, Vivianna M., Trojanowski, John Q., Gibbs, J. Raphael, Brunetti, Maura, Gronka, Susan, Wuu, Joanne, Ding, Jinhui, Mccluskey, Leo, Martinez Lage, Maria, Falcone, Dana, Hernandez, Dena G., Arepalli, Sampath, Chong, Sean, Schymick, Jennifer C., Rothstein, Jeffrey, Landi, Francesco, Wang, Yong Dong, Calvo, Andrea, Mora, Gabriele, Sabatelli, Mario, Battistini, Stefania, Salvi, Fabrizio, Spataro, Rossella, Sola, Patrizia, Borghero, Giuseppe, Giannini, Fabio, Ricci, Claudia, Moglia, Cristina, Ossola, Irene, Canosa, Antonio, Gallo, Sara, Bartolomei, Ilaria, Marinou, Kalliopi, Papetti, Laura, Conte, Amelia, Luigetti, Marco, La Bella, Vincenzo, Paladino, Piera, Caponnetto, Claudia, Volanti, Paolo, Marrosu, Maria Teresa, Murru, Maria Rita, Galassi, Giuliana, Scholz, Sonja W., Taylor, J. Paul, Restagno, Gabriella, Chiò, Adriano, Traynor, Bryan J., MONSURRO', Maria Rosaria, TEDESCHI, Gioacchino, Johnson, JO, Mandrioli, J, Benatar, M, Abramzon, Y, Van Deerlin, VM, Trojanowski, JQ, Gibbs, JR, Brunetti, M, Gronka, S, Wuu, J, Ding, J, McCluskey, L, Martinez-Lage, M, Falcone, D, Hernandez, DG, Arepalli, S, Chong, S, Schymick, JC, Rothstein, J, Landi, F, Wang, Y-D, Calvo, A, Mora, G, Sabatelli, M, Monsurrò, MR, Battistini, S, Salvi, F, Spataro, R, Sola, P, Borghero, G, Galassi, G, Scholz, SW, Taylor, JP, Restagno, G, Chiò, A, Traynor, BJ, Johnson, Janel O., Mandrioli, Jessica, Benatar, Michael, Abramzon, Yevgeniya, Van Deerlin, Vivianna M., Trojanowski, John Q., Gibbs, J. Raphael, Brunetti, Maura, Gronka, Susan, Wuu, Joanne, Ding, Jinhui, Mccluskey, Leo, Martinez Lage, Maria, Falcone, Dana, Hernandez, Dena G., Arepalli, Sampath, Chong, Sean, Schymick, Jennifer C., Rothstein, Jeffrey, Landi, Francesco, Wang, Yong Dong, Calvo, Andrea, Mora, Gabriele, Sabatelli, Mario, Monsurro', Maria Rosaria, Battistini, Stefania, Salvi, Fabrizio, Spataro, Rossella, Sola, Patrizia, Borghero, Giuseppe, Giannini, Fabio, Ricci, Claudia, Moglia, Cristina, Ossola, Irene, Canosa, Antonio, Gallo, Sara, Tedeschi, Gioacchino, Bartolomei, Ilaria, Marinou, Kalliopi, Papetti, Laura, Conte, Amelia, Luigetti, Marco, La Bella, Vincenzo, Paladino, Piera, Caponnetto, Claudia, Volanti, Paolo, Marrosu, Maria Teresa, Murru, Maria Rita, Galassi, Giuliana, Scholz, Sonja W., Taylor, J. Paul, Restagno, Gabriella, Chiò, Adriano, and Traynor, Bryan J.
- Subjects
Adenosine Triphosphatase ,Male ,Cell Cycle Proteins ,UBQLN2 ,Cohort Studies ,0302 clinical medicine ,Reference Values ,Valosin Containing Protein ,Cell Cycle Protein ,Reference Value ,Amyotrophic lateral sclerosis ,Exome sequencing ,Adenosine Triphosphatases ,Genetics ,0303 health sciences ,General Neuroscience ,Exons ,Middle Aged ,Pedigree ,3. Good health ,Multisystem proteinopathy ,Female ,Settore MED/26 - Neurologia ,Case-Control Studie ,Chromosomes, Human, Pair 9 ,Human ,Frontotemporal dementia ,Neuroscience(all) ,Valosin-containing protein ,Exon ,Biology ,Protein degradation ,TARDBP ,Article ,03 medical and health sciences ,medicine ,Humans ,Aged ,030304 developmental biology ,Amyotrophic lateral sclerosis, familial ALS, exome sequencing ,Neuroscience (all) ,business.industry ,Amyotrophic Lateral Sclerosis ,medicine.disease ,Amino Acid Substitution ,Case-Control Studies ,Mutation ,biology.protein ,Cohort Studie ,business ,030217 neurology & neurosurgery ,Amyotrophic Lateral Sclerosi - Abstract
Summary Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein ( VCP ) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mutation in a pathologically proven case of ALS. VCP protein is essential for maturation of ubiquitin-containing autophagosomes, and mutant VCP toxicity is partially mediated through its effect on TDP-43 protein, a major constituent of ubiquitin inclusions that neuropathologically characterize ALS. Our data broaden the phenotype of IBMPFD to include motor neuron degeneration, suggest that VCP mutations may account for ∼1%–2% of familial ALS, and provide evidence directly implicating defects in the ubiquitination/protein degradation pathway in motor neuron degeneration.
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- 2010
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31. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
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Nicolas, A, Kenna, K, Renton, A, Ticozzi, N, Faghri, F, Chia, R, Dominov, J, Kenna, B, Nalls, M, Keagle, P, Rivera, A, van Rheenen, W, Murphy, N, van Vugt, J, Geiger, J, van der Spek, R, Pliner, H, Shankaracharya, N, Smith, B, Marangi, G, Topp, S, Abramzon, Y, Gkazi, A, Eicher, J, Kenna, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Borghero, G, Murru, M, 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, Capasso, M, Caponnetto, C, Mancardi, G, Origone, P, Mandich, P, Conforti, F, Cavallaro, S, Mora, G, Marinou, K, Sideri, R, Penco, S, Mosca, L, Lunetta, C, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Mandrioli, J, Fini, N, Fasano, A, Tremolizzo, L, Arosio, A, Ferrarese, C, Trojsi, F, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Ticca, A, Ortu, E, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Santarelli, M, Petrucci, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Cau, T, Loi, D, Calvo, A, Moglia, C, Brunetti, M, Barberis, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Canosa, A, Ilardi, A, Manera, U, Grassano, M, Tanel, R, Pisano, F, Mazzini, L, Messina, S, D'Alfonso, S, Corrado, L, Ferrucci, L, Harms, M, Goldstein, D, Shneider, N, Goutman, S, Simmons, Z, Miller, T, Chandran, S, Pal, S, Manousakis, G, Appel, S, Simpson, E, Wang, L, Baloh, R, Gibson, S, Bedlack, R, Lacomis, D, Sareen, D, Sherman, A, Bruijn, L, Penny, M, Moreno, C, Kamalakaran, S, Allen, A, Boone, B, Brown, R, Carulli, J, Chesi, A, Chung, W, Cirulli, E, Cooper, G, Couthouis, J, Day-Williams, A, Dion, P, Gitler, A, Glass, J, Han, Y, Harris, T, Hayes, S, Jones, A, Keebler, J, Krueger, B, Lasseigne, B, Levy, S, Lu, Y, Maniatis, T, McKenna-Yasek, D, Myers, R, Petrovski, S, Pulst, S, Raphael, A, Ravits, J, Ren, Z, Rouleau, G, Sapp, P, Sims, K, Staropoli, J, Waite, L, Wang, Q, Wimbish, J, Xin, W, Phatnani, H, Kwan, J, Broach, J, Arcila-Londono, X, Lee, E, Van Deerlin, V, Fraenkel, E, Ostrow, L, Baas, F, Zaitlen, N, Berry, J, Malaspina, A, Fratta, P, Cox, G, Thompson, L, Finkbeiner, S, Dardiotis, E, Hornstein, E, Macgowan, D, Heiman-Patterson, T, Hammell, M, Patsopoulos, N, Dubnau, J, Nath, A, Musunuri, R, Evani, U, Abhyankar, A, Zody, M, Kaye, J, Wyman, S, Lenail, A, Lima, L, Rothstein, J, Svendsen, C, Van Eyk, J, Maragakis, N, Kolb, S, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, J, Wu, G, Rampersaud, E, Wuu, J, Rademakers, R, Züchner, S, Schule, R, Mccauley, J, Hussain, S, Cooley, A, Wallace, M, Clayman, C, Barohn, R, Statland, J, Swenson, A, Jackson, C, Trivedi, J, Khan, S, Katz, J, Jenkins, L, Burns, T, Gwathmey, K, Caress, J, Mcmillan, C, Elman, L, Pioro, E, Heckmann, J, So, Y, Walk, D, Maiser, S, Zhang, J, Silani, V, Gellera, C, Ratti, A, Taroni, F, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, G, Sorarù, G, Cereda, C, De Marchi, F, Corti, S, Ceroni, M, Siciliano, G, Filosto, M, Inghilleri, M, Peverelli, S, Colombrita, C, Poletti, B, Maderna, L, Del Bo, R, Gagliardi, S, Querin, G, Bertolin, C, Pensato, V, Castellotti, B, Camu, W, Mouzat, K, Lumbroso, S, Corcia, P, Meininger, V, Besson, G, Lagrange, E, Clavelou, P, Guy, N, Couratier, P, Vourch, P, Danel, V, Bernard, E, Lemasson, G, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, R, Sidle, K, Hardy, J, Singleton, A, Johnson, J, Arepalli, S, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, ten Asbroek, A, Muñoz-Blanco, J, Hernandez, D, Ding, J, Gibbs, J, Scholz, S, Floeter, M, Campbell, R, Landi, F, Bowser, R, Kirby, J, Pamphlett, R, Gerhard, G, Dunckley, T, Brady, C, Kowall, N, Troncoso, J, Le Ber, I, Kamel, F, Van Den Bosch, L, Strom, T, Meitinger, T, Shatunov, A, Van Eijk, K, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, Mclaughlin, R, Van Es, M, Weber, M, Boylan, K, Van Blitterswijk, M, Morrison, K, Basak, A, Mora, J, Drory, V, Shaw, P, Turner, M, Talbot, K, Hardiman, O, Williams, K, Fifita, J, Nicholson, G, Blair, I, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Al Kheifat, A, Andersen, P, Chio, A, Cooper-Knock, J, Dekker, A, Redondo, A, Gotkine, M, Hide, W, Iacoangeli, A, Kiernan, M, Landers, J, Mill, J, Neto, M, Pardina, J, Newhouse, S, Pinto, S, Pulit, S, Robberecht, W, Shaw, C, Sproviero, W, Tazelaar, G, van Damme, P, van den Berg, L, van Eijk, K, van Es, M, Veldink, J, Zatz, M, Bauer, D, Twine, N, Rogaeva, E, Zinman, L, Brice, A, Feldman, E, Ludolph, A, Weishaupt, J, Trojanowski, J, Stone, D, Tienari, P, Chiò, A, Traynor, B, Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J. F. A., Geiger, Joshua T., van der Spek, Rick, Pliner, Hannah A., Shankaracharya, null, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, 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, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Mazzini, Letizia, Messina, Sonia, D'Alfonso, Sandra, Corrado, Lucia, Ferrucci, Luigi, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, George, Appel, Stanley, Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard S., Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Allen, Andrew S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steven, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Kaye, Julia, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Wyman, Stacia K., Van Eyk, Jennifer E., Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L. M. A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J. L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Shatunov, Aleksey, Van Eijk, Kristel R., de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Bas, Moisse, Mattieu, McLaughlin, Russell L., Van Es, Michael A., Weber, Markus, Boylan, Kevin B., Van Blitterswijk, Marka, Morrison, Karen E., Basak, A. Nazli, Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Williams, Kelly L., Fifita, Jennifer A., Nicholson, Garth A., Blair, Ian P., Esteban-Pérez, Jesús, García-Redondo, Alberto, Al-Chalabi, Ammar, Al Kheifat, Ahmad, Andersen, Peter, Chio, Adriano, Cooper-Knock, Jonathan, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Landers, John, McLaughlin, Russell, Mill, Jonathan, Neto, Miguel Mitne, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van Eijk, Kristel, van Es, Michael, van Vugt, Joke, Veldink, Jan, Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Rogaeva, Ekaterina, Zinman, Lorne, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., Landers, John E., Nicolas, A, Kenna, K, Renton, A, Ticozzi, N, Faghri, F, Chia, R, Dominov, J, Kenna, B, Nalls, M, Keagle, P, Rivera, A, van Rheenen, W, Murphy, N, van Vugt, J, Geiger, J, van der Spek, R, Pliner, H, Shankaracharya, N, Smith, B, Marangi, G, Topp, S, Abramzon, Y, Gkazi, A, Eicher, J, Kenna, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Borghero, G, Murru, M, 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, Capasso, M, Caponnetto, C, Mancardi, G, Origone, P, Mandich, P, Conforti, F, Cavallaro, S, Mora, G, Marinou, K, Sideri, R, Penco, S, Mosca, L, Lunetta, C, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Mandrioli, J, Fini, N, Fasano, A, Tremolizzo, L, Arosio, A, Ferrarese, C, Trojsi, F, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Ticca, A, Ortu, E, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Santarelli, M, Petrucci, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Cau, T, Loi, D, Calvo, A, Moglia, C, Brunetti, M, Barberis, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Canosa, A, Ilardi, A, Manera, U, Grassano, M, Tanel, R, Pisano, F, Mazzini, L, Messina, S, D'Alfonso, S, Corrado, L, Ferrucci, L, Harms, M, Goldstein, D, Shneider, N, Goutman, S, Simmons, Z, Miller, T, Chandran, S, Pal, S, Manousakis, G, Appel, S, Simpson, E, Wang, L, Baloh, R, Gibson, S, Bedlack, R, Lacomis, D, Sareen, D, Sherman, A, Bruijn, L, Penny, M, Moreno, C, Kamalakaran, S, Allen, A, Boone, B, Brown, R, Carulli, J, Chesi, A, Chung, W, Cirulli, E, Cooper, G, Couthouis, J, Day-Williams, A, Dion, P, Gitler, A, Glass, J, Han, Y, Harris, T, Hayes, S, Jones, A, Keebler, J, Krueger, B, Lasseigne, B, Levy, S, Lu, Y, Maniatis, T, McKenna-Yasek, D, Myers, R, Petrovski, S, Pulst, S, Raphael, A, Ravits, J, Ren, Z, Rouleau, G, Sapp, P, Sims, K, Staropoli, J, Waite, L, Wang, Q, Wimbish, J, Xin, W, Phatnani, H, Kwan, J, Broach, J, Arcila-Londono, X, Lee, E, Van Deerlin, V, Fraenkel, E, Ostrow, L, Baas, F, Zaitlen, N, Berry, J, Malaspina, A, Fratta, P, Cox, G, Thompson, L, Finkbeiner, S, Dardiotis, E, Hornstein, E, Macgowan, D, Heiman-Patterson, T, Hammell, M, Patsopoulos, N, Dubnau, J, Nath, A, Musunuri, R, Evani, U, Abhyankar, A, Zody, M, Kaye, J, Wyman, S, Lenail, A, Lima, L, Rothstein, J, Svendsen, C, Van Eyk, J, Maragakis, N, Kolb, S, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, J, Wu, G, Rampersaud, E, Wuu, J, Rademakers, R, Züchner, S, Schule, R, Mccauley, J, Hussain, S, Cooley, A, Wallace, M, Clayman, C, Barohn, R, Statland, J, Swenson, A, Jackson, C, Trivedi, J, Khan, S, Katz, J, Jenkins, L, Burns, T, Gwathmey, K, Caress, J, Mcmillan, C, Elman, L, Pioro, E, Heckmann, J, So, Y, Walk, D, Maiser, S, Zhang, J, Silani, V, Gellera, C, Ratti, A, Taroni, F, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, G, Sorarù, G, Cereda, C, De Marchi, F, Corti, S, Ceroni, M, Siciliano, G, Filosto, M, Inghilleri, M, Peverelli, S, Colombrita, C, Poletti, B, Maderna, L, Del Bo, R, Gagliardi, S, Querin, G, Bertolin, C, Pensato, V, Castellotti, B, Camu, W, Mouzat, K, Lumbroso, S, Corcia, P, Meininger, V, Besson, G, Lagrange, E, Clavelou, P, Guy, N, Couratier, P, Vourch, P, Danel, V, Bernard, E, Lemasson, G, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, R, Sidle, K, Hardy, J, Singleton, A, Johnson, J, Arepalli, S, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, ten Asbroek, A, Muñoz-Blanco, J, Hernandez, D, Ding, J, Gibbs, J, Scholz, S, Floeter, M, Campbell, R, Landi, F, Bowser, R, Kirby, J, Pamphlett, R, Gerhard, G, Dunckley, T, Brady, C, Kowall, N, Troncoso, J, Le Ber, I, Kamel, F, Van Den Bosch, L, Strom, T, Meitinger, T, Shatunov, A, Van Eijk, K, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, Mclaughlin, R, Van Es, M, Weber, M, Boylan, K, Van Blitterswijk, M, Morrison, K, Basak, A, Mora, J, Drory, V, Shaw, P, Turner, M, Talbot, K, Hardiman, O, Williams, K, Fifita, J, Nicholson, G, Blair, I, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Al Kheifat, A, Andersen, P, Chio, A, Cooper-Knock, J, Dekker, A, Redondo, A, Gotkine, M, Hide, W, Iacoangeli, A, Kiernan, M, Landers, J, Mill, J, Neto, M, Pardina, J, Newhouse, S, Pinto, S, Pulit, S, Robberecht, W, Shaw, C, Sproviero, W, Tazelaar, G, van Damme, P, van den Berg, L, van Eijk, K, van Es, M, Veldink, J, Zatz, M, Bauer, D, Twine, N, Rogaeva, E, Zinman, L, Brice, A, Feldman, E, Ludolph, A, Weishaupt, J, Trojanowski, J, Stone, D, Tienari, P, Chiò, A, Traynor, B, Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J. F. A., Geiger, Joshua T., van der Spek, Rick, Pliner, Hannah A., Shankaracharya, null, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, 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, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Mazzini, Letizia, Messina, Sonia, D'Alfonso, Sandra, Corrado, Lucia, Ferrucci, Luigi, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, George, Appel, Stanley, Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard S., Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Allen, Andrew S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steven, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Kaye, Julia, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Wyman, Stacia K., Van Eyk, Jennifer E., Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L. M. A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J. L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Shatunov, Aleksey, Van Eijk, Kristel R., de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Bas, Moisse, Mattieu, McLaughlin, Russell L., Van Es, Michael A., Weber, Markus, Boylan, Kevin B., Van Blitterswijk, Marka, Morrison, Karen E., Basak, A. Nazli, Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Williams, Kelly L., Fifita, Jennifer A., Nicholson, Garth A., Blair, Ian P., Esteban-Pérez, Jesús, García-Redondo, Alberto, Al-Chalabi, Ammar, Al Kheifat, Ahmad, Andersen, Peter, Chio, Adriano, Cooper-Knock, Jonathan, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Landers, John, McLaughlin, Russell, Mill, Jonathan, Neto, Miguel Mitne, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van Eijk, Kristel, van Es, Michael, van Vugt, Joke, Veldink, Jan, Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Rogaeva, Ekaterina, Zinman, Lorne, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., and Landers, John E.
- Abstract
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS. Using a large-scale genome-wide association study and exome sequencing, we identified KIF5A as a novel gene associated with ALS. Our data broaden the phenotype resulting from mutations in KIF5A and highlight the importance of cytoskeletal defects in the pathogenesis of ALS.
- Published
- 2018
32. ATNX2 is not a regulatory gene in Italian ALS patients with C9ORF72 GGGGCC expansion
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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, Trojsi, Francesca, La Bella, Vincenzo, Volanti, Paolo, Simone, Isabella, Salvi, Fabrizio, Logullo, Francesco O., Riva, Nilo, Carrera, Paola, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Capasso, Margherita, Tremolizzo, Lucio, Battistini, Stefania, Murru, Maria Rita, Origone, Paola, Zollino, Marcella, Penco, Silvana, Mazzini, Letizia, D’Alfonso, Sandra, Restagno, Gabriella, Brunetti, Maura, Barberis, Marco, and Conforti, Francesca L.
- Subjects
Male ,DNA Repeat Expansion ,C9orf72 Protein ,Italy ,Amyotrophic Lateral Sclerosis ,Humans ,Proteins ,Female ,Middle Aged ,Article ,Genetic Association Studies ,Aged ,Ataxin-2 - Abstract
There are indications that both familial amyotrophic lateral sclerosis (ALS) and sporadic ALS phenotype and prognosis are partly regulated by genetic and environmental factors, supporting the theory that ALS is a multifactorial disease. The aim of this article was to assess the role of ATXN2 intermediate length repeats in a large series of Italian and Sardinian ALS patients and controls carrying a pathogenetic C9ORF72 GGGGCC hexanucleotide repeat. A total of 1972 ALS cases were identified through the database of the Italian ALS Genetic consortium, a collaborative effort including 18 ALS centers throughout Italy. The study population included: (1) 276 Italian and 57 Sardinian ALS cases who carried the C9ORF72 expansion; (2) 1340 Italian and 299 Sardinian ALS cases not carrying the C9ORF72 expansion. A total of healthy 1043 controls were also assessed. Most Italian and Sardinian cases and controls were homozygous for 22/22 or 23/23 repeats or heterozygous for 22/23 repeats of the ATXN2 gene. ATXN2 intermediate length repeats alleles (≥28) were detected in 3 (0.6%) Italian ALS cases carrying the C9ORF72 expansion, in none of the Sardinian ALS cases carrying the expansion, in 60 (4.3%) Italian cases not carrying the expansion, and in 6 (2.0%) Sardinian ALS cases without C9ORF72 expansion. Intermediate length repeat alleles were found in 12 (1.5%) Italian controls and 1 (0.84%) Sardinian controls. Therefore, ALS patients with C9ORF72 expansion showed a lower frequency of ATXN2 polyQ intermediate length repeats than both controls (Italian cases, p = 0.137; Sardinian cases, p = 0.0001) and ALS patients without C9ORF72 expansion (Italian cases, p = 0.005; Sardinian cases, p = 0.178). In our large study on Italian and Sardinian ALS patients with C9ORF72 GGGGCC hexanucleotide repeat expansion, compared to age-, gender- and ethnic-matched controls, ATXN2 polyQ intermediate length does not represent a modifier of ALS risk, differently from non-C9ORF72 mutated patients.
- Published
- 2015
33. Assessing the Metabolomic Profile of Multiple Sclerosis Patients Treated with Interferon Beta 1a by 1H-NMR Spectroscopy.
- Author
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Lorefice, Lorena, Murgia, Federica, Fenu, Giuseppe, Frau, Jessica, Coghe, Giancarlo, Murru, Maria Rita, Tranquilli, Stefania, Visconti, Andrea, Marrosu, Maria Giovanna, Atzori, Luigi, and Cocco, Eleonora
- Abstract
Metabolomic research has emerged as a promising approach to identify potential biomarkers in multiple sclerosis (MS). The aim of the present study was to determine the effect of interferon beta (IFN ß) on the metabolome of MS patients to explore possible biomarkers of disease activity and therapeutic response. Twenty-one MS patients starting IFN ß therapy (Rebif® 44 μg; s.c. 3 times per week) were enrolled. Blood samples were obtained at baseline and after 6, 12, and 24 months of IFN ß treatment and were analyzed by high-resolution nuclear magnetic resonance spectroscopy. Changes in metabolites were analyzed. After IFN ß exposure, patients were divided into responders and nonresponders according to the "no evidence of disease activity" (NEDA-3) definition (absence of relapses, disability progression, and magnetic resonance imaging activity), and samples obtained at baseline were analyzed to evaluate the presence of metabolic differences predictive of IFN ß response. The results of the investigation demonstrated differential distribution of baseline samples compared to those obtained during IFN ß exposure, particularly after 24 months of treatment (R2X = 0.812, R2Y = 0.797, Q2 = 0.613, p = 0.003). In addition, differences in the baseline metabolome between responder and nonresponder patients with respect to lactate, acetone, 3-OH-butyrate, tryptophan, citrate, lysine, and glucose levels were found (R2X = 0.442, R2Y = 0.768, Q2 = 0.532, p = 0.01). In conclusion, a metabolomic approach appears to be a promising, noninvasive tool that could potentially contribute to predicting the efficacy of MS therapies. [ABSTRACT FROM AUTHOR]
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- 2019
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34. CHCH10 mutations in an Italian cohort of familial and sporadic ALS patients
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Chiò, Adriano, Mora, Gabriele, Sabatelli, Mario, Caponnetto, Claudia, Traynor, Bryan J., Johnson, Janel O., Nalls, Mike A., Calvo, Andrea, Moglia, Cristina, Borghero, Giuseppe, Monsurrò, 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, and Lunetta, Christian
- Subjects
Male ,Amyotrophic Lateral Sclerosis ,Middle Aged ,Article ,Cohort Studies ,Mitochondrial Proteins ,Italy ,Frontotemporal Dementia ,mental disorders ,Mutation ,Humans ,Female ,Genetic Predisposition to Disease ,Genetic Association Studies ,Aged - Abstract
Mutations in CHCHD10 have recently been described as a cause of frontotemporal dementia (FTD) co-morbid 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 two 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 subject without dementia or other atypical clinical signs.
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- 2015
35. TBK1 is associated with ALS and ALS-FTD in Sardinian patients
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Borghero, Giuseppe, primary, Pugliatti, Maura, additional, Marrosu, Francesco, additional, Marrosu, Maria Giovanna, additional, Murru, Maria Rita, additional, Floris, Gianluca, additional, Cannas, Antonino, additional, Occhineri, Patrizia, additional, Cau, Tea B., additional, Loi, Daniela, additional, Ticca, Anna, additional, Traccis, Sebastiano, additional, Manera, Umberto, additional, Canosa, Antonio, additional, Moglia, Cristina, additional, Calvo, Andrea, additional, Barberis, Marco, additional, Brunetti, Maura, additional, Gibbs, J. Raphael, additional, Renton, Alan E., additional, Errichiello, Edoardo, additional, Zoledziewska, Magdalena, additional, Mulas, Antonella, additional, Qian, Yong, additional, Din, Jun, additional, Pliner, Hannah A., additional, Traynor, Bryan J., additional, Chiò, Adriano, additional, Logullo, Francesco O., additional, Simone, Isabella, additional, Logroscino, Giancarlo, additional, Salvi, Fabrizio, additional, Bartolomei, Ilaria, additional, Capasso, Margherita, additional, Caponnetto, Claudia, additional, Mandich, Paolo, additional, Mancardi, Gianluigi, additional, Origone, Paola, additional, Conforti, Francesca L., additional, Vita, Giuseppe, additional, Messina, Sonia, additional, Russo, Massimo, additional, Mora, Gabriele, additional, Marinou, Kalliopi, additional, Sideri, Riccardo, additional, Lunetta, Christian, additional, Penco, Silvana, additional, Mosca, Lorena, additional, Pinter, Giuseppe Lauria, additional, Corbo, Massimo, additional, Riva, Nilo, additional, Carrera, Paola, additional, Volanti, Paolo, additional, Tremolizzo, Lucio, additional, Ferrarese, Carlo, additional, Fini, Nicola, additional, Fasano, Antonio, additional, Monsurrò, Maria Rosaria, additional, Tedeschi, Gioacchino, additional, Trojsi, Francesca, additional, Piccirillo, Giovanni, additional, Cristillo, Viviana, additional, Mazzini, Letizia, additional, D'Alfonso, Sandra, additional, Bersano, Anna, additional, Corrado, Lucia, additional, Bagarotti, Alessandra, additional, La Bella, Vincenzo, additional, Spataro, Rossella, additional, Colletti, Tiziana, additional, Sabatelli, Mario, additional, Zollino, Marcella, additional, Conte, Amelia, additional, Luigetti, Marco, additional, Lattante, Serena, additional, Marangi, Giuseppe, additional, Santarelli, Marialuisa, additional, Petrucci, Antonio, additional, Giannini, Fabio, additional, Battistini, Stefania, additional, Ricci, Claudia, additional, Benigni, Michele, additional, Restagno, Gabriella, additional, Casale, Federico, additional, Marrali, Giuseppe, additional, Fuda, Giuseppe, additional, Ossola, Irene, additional, Cammarosano, Stefania, additional, Ilardi, Antonio, additional, Bertuzzo, Davide, additional, Tanel, Raffaella, additional, Pisano, Fabrizio, additional, Costantino, Emanuela, additional, Pani, Carla, additional, Puddu, Roberta, additional, Caredda, Carla, additional, Piras, Valeria, additional, Tranquilli, Stefania, additional, Cuccu, Stefania, additional, Corongiu, Daniela, additional, Melis, Maurizio, additional, Milia, Antonio, additional, Pirisi, Angelo, additional, Parish, Leslie D., additional, and Ortu, Enzo, additional
- Published
- 2016
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36. 1 H-NMR analysis provides a metabolomic profile of patients with multiple sclerosis
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Cocco, Eleonora, primary, Murgia, Federica, additional, Lorefice, Lorena, additional, Barberini, Luigi, additional, Poddighe, Simone, additional, Frau, Jessica, additional, Fenu, Giuseppe, additional, Coghe, Giancarlo, additional, Murru, Maria Rita, additional, Murru, Raffaele, additional, Del Carratore, Francesco, additional, Atzori, Luigi, additional, and Marrosu, Maria Giovanna, additional
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- 2016
- Full Text
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37. TBK1 is associated with ALS and ALS-FTD in Sardinian patients
- Author
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Borghero, Giuseppe, Pugliatti, Maura, Marrosu, Francesco, Marrosu, Maria Giovanna, Murru, Maria Rita, Floris, Gianluca, Cannas, Antonino, Occhineri, Patrizia, Cau, Tea B., Loi, Daniela, Ticca, Anna, Traccis, Sebastiano, Manera, Umberto, Canosa, Antonio, Moglia, Cristina, Calvo, Andrea, Barberis, Marco, Brunetti, Maura, Gibbs, J. Raphael, Renton, Alan E., Errichiello, Edoardo, Zoledziewska, Magdalena, Mulas, Antonella, Qian, Yong, Din, Jun, Pliner, Hannah A., Traynor, Bryan J., Chiò, Adriano, Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Capasso, Margherita, Caponnetto, Claudia, Mandich, Paolo, Mancardi, Gianluigi, Origone, Paola, Conforti, Francesca L., Vita, Giuseppe, Messina, Sonia, Russo, Massimo, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Lunetta, Christian, Penco, Silvana, Mosca, Lorena, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Tremolizzo, Lucio, Ferrarese, Carlo, Fini, Nicola, Fasano, Antonio, Monsurrò, Maria Rosaria, Tedeschi, Gioacchino, Trojsi, Francesca, Piccirillo, Giovanni, Cristillo, Viviana, Mazzini, Letizia, D'Alfonso, Sandra, Bersano, Anna, Corrado, Lucia, Bagarotti, Alessandra, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Santarelli, Marialuisa, Petrucci, Antonio, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Ilardi, Antonio, Bertuzzo, Davide, Tanel, Raffaella, Pisano, Fabrizio, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Pirisi, Angelo, Parish, Leslie D., Ortu, Enzo, Sabatelli, Mario (ORCID:0000-0001-6635-4985), Zollino, Marcella (ORCID:0000-0003-4871-9519), Luigetti, Marco (ORCID:0000-0001-7539-505X), Lattante, Serena (ORCID:0000-0003-2891-0340), Marangi, Giuseppe (ORCID:0000-0002-6898-8882), Borghero, Giuseppe, Pugliatti, Maura, Marrosu, Francesco, Marrosu, Maria Giovanna, Murru, Maria Rita, Floris, Gianluca, Cannas, Antonino, Occhineri, Patrizia, Cau, Tea B., Loi, Daniela, Ticca, Anna, Traccis, Sebastiano, Manera, Umberto, Canosa, Antonio, Moglia, Cristina, Calvo, Andrea, Barberis, Marco, Brunetti, Maura, Gibbs, J. Raphael, Renton, Alan E., Errichiello, Edoardo, Zoledziewska, Magdalena, Mulas, Antonella, Qian, Yong, Din, Jun, Pliner, Hannah A., Traynor, Bryan J., Chiò, Adriano, Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Capasso, Margherita, Caponnetto, Claudia, Mandich, Paolo, Mancardi, Gianluigi, Origone, Paola, Conforti, Francesca L., Vita, Giuseppe, Messina, Sonia, Russo, Massimo, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Lunetta, Christian, Penco, Silvana, Mosca, Lorena, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Tremolizzo, Lucio, Ferrarese, Carlo, Fini, Nicola, Fasano, Antonio, Monsurrò, Maria Rosaria, Tedeschi, Gioacchino, Trojsi, Francesca, Piccirillo, Giovanni, Cristillo, Viviana, Mazzini, Letizia, D'Alfonso, Sandra, Bersano, Anna, Corrado, Lucia, Bagarotti, Alessandra, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Santarelli, Marialuisa, Petrucci, Antonio, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Ilardi, Antonio, Bertuzzo, Davide, Tanel, Raffaella, Pisano, Fabrizio, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Pirisi, Angelo, Parish, Leslie D., Ortu, Enzo, Sabatelli, Mario (ORCID:0000-0001-6635-4985), Zollino, Marcella (ORCID:0000-0003-4871-9519), Luigetti, Marco (ORCID:0000-0001-7539-505X), Lattante, Serena (ORCID:0000-0003-2891-0340), and Marangi, Giuseppe (ORCID:0000-0002-6898-8882)
- Abstract
Recently, mutations in the TANK-binding kinase 1 (TBK1) gene were identified as a cause for amyotrophic lateral sclerosis (ALS) with or without comorbid frontotemporal dementia. We have assessed the frequency and clinical characteristics of TBK1 mutations in a cohort of ALS patients of Sardinian ancestry. Whole-exome sequencing was performed on Hiseq2000 platform (Illumina). Genome analysis Toolkit was used to align and to code variants according to Human Genome (UCSC hg19). Mutation was confirmed with Sanger sequence. In our screening of 186 Sardinian ALS cases, we found 3 (1.6%) patients carrying 3 distinct novel genetic variants: a nonsynonymous SNV c.1150C>T leading to a p.Arg384Thr change in exon 9; a nonsynonymous SNV c.1331G>A causes a p.Arg444Gln change in exon 11; and a frameshift deletion c.2070delG (p.Met690fs) at the exon 20 of the gene leading to a stop at 693 codon. The latter patients also carried missense mutation c.98C>T of the SQSTM1 gene causing a substitution of an arginine with a valine at the position 33 (p.Arg33Val). All variants were found to be deleterious according to in silico predictions. All cases were apparently sporadic and one of them showed frontotemporal dementia associated to ALS. These mutations were not found in 2 cohorts of 6780 ethnic-matched controls. We have found that TBK1 mutations account for 1.6% of Sardinian ALS cases. Our data support the notion that TBK1 is a novel ALS gene, providing important evidence complementary to the first descriptions.
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- 2015
38. Heat shock protein 27 R127W mutation: evidence of a continuum between axonal CMT and distal HMN
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Solla, Paolo, Vannelli, Alessandro, Bolino, Alessandra, Marrosu, Giovanni, Coviello, Silvia, Murru, Maria Rita, Tranquilli, Stefania, Corongiu, Daniela, Benedetti, Sara, Marrosu, Maria Giovanna, University of Cagliari, Centro Sclerosi Multipla, Ospedale Binaghi, Via Is Guadazzonis 2, Cagliari, Italy, San Raffaele Scientific Institute, Milan, Italy, and Laboratory of Clinical Molecular Biology DIBIT 2, Diagnostic and Research San Raffaele, Milan, Ital
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animal structures ,GENETICS ,CLINICAL ,NEUROPATHY ,HMSN (CHARCOT-MARIE-TOOTH) ,NEUROPHYSIOL - Abstract
International audience; Heat shock protein 27 (HSP27), also known as HSPB1, belongs to the superfamily of small heat-shock proteins and is mainly implicated in the assembly of neurofilament network1. HSP27 mutations have been reported to cause both Charcot-Marie-Tooth disease (CMT) type 2F and distal hereditary motor neuropathy (dHMN)1-6, although never previously in a single family. The aim of this study was to divulge clinical and electrophysiological findings obtained in a single large Sardinian family bearing the HSP27 R127W mutation, revealing how affected subjects featured a marked interfamilial phenotypic heterogeneity varying from pure axonal CMT2F or dHMN phenotype, with one single patient clearly presenting associated features of spastic paraplegia.
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- 2010
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39. Role of interferon-beta in Mycobacterium avium subspecies paratuberculosis antibody response in Sardinian MS patients
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Frau, Jessica, primary, Cossu, Davide, additional, Coghe, Giancarlo, additional, Lorefice, Lorena, additional, Fenu, Giuseppe, additional, Porcu, Gianluca, additional, Sardu, Claudia, additional, Murru, Maria Rita, additional, Tranquilli, Stefania, additional, Marrosu, Maria Giovanna, additional, Sechi, Leonardo Antonio, additional, and Cocco, Eleonora, additional
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- 2015
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40. C9ORF72repeat expansion and bipolar disorder - is there a link? No mutation detected in a Sardinian cohort of patients with bipolar disorder
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Floris, Gianluca, primary, Di Stefano, Francesca, additional, Pisanu, Claudia, additional, Chillotti, Caterina, additional, Murru, Maria Rita, additional, Congiu, Donatella, additional, Cuccu, Stefania, additional, Ruiu, Elisa, additional, Borghero, Giuseppe, additional, Cannas, Antonino, additional, Marrosu, Maria Giovanna, additional, Marrosu, Francesco, additional, Del Zompo, Maria, additional, and Squassina, Alessio, additional
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- 2014
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41. Vitamin D Responsive Elements within the HLA-DRB1 Promoter Region in Sardinian Multiple Sclerosis Associated Alleles
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Cocco, Eleonora, primary, Meloni, Alessandra, additional, Murru, Maria Rita, additional, Corongiu, Daniela, additional, Tranquilli, Stefania, additional, Fadda, Elisabetta, additional, Murru, Raffaele, additional, Schirru, Lucia, additional, Secci, Maria Antonietta, additional, Costa, Gianna, additional, Asunis, Isadora, additional, Cuccu, Stefania, additional, Fenu, Giuseppe, additional, Lorefice, Lorena, additional, Carboni, Nicola, additional, Mura, Gioia, additional, Rosatelli, Maria Cristina, additional, and Marrosu, Maria Giovanna, additional
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- 2012
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42. ParkinExon Rearrangements and Sequence Variants inLRRK2Mutations Carriers: Analysis on a Possible Modifier Effect onLRRK2Penetrance
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Solla, Paolo, primary, Cannas, Antonino, additional, Floris, Gianluca, additional, Murru, Maria Rita, additional, Corongiu, Daniela, additional, Tranquilli, Stefania, additional, Cuccu, Stefania, additional, Rolesu, Marcella, additional, Marrosu, Francesco, additional, and Marrosu, Maria Giovanna, additional
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- 2010
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43. Multiple Sclerosis in Sardinia Is Associated and in Linkage Disequilibrium with HLA‐DR3 and ‐DR4 Alleles
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Marrosu, Maria Giovanna, primary, Murru, Maria Rita, additional, Costa, Gianna, additional, Cucca, Francesco, additional, Sotgiu, Stefano, additional, Rosati, Giulio, additional, and Muntoni, Francesco, additional
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- 1997
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44. Parkin Exon Rearrangements and Sequence Variants in LRRK2 Mutations Carriers: Analysis on a Possible Modifier Effect on LRRK2 Penetrance.
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Solla, Paolo, Cannas, Antonino, Floris, Gianluca, Murru, Maria Rita, Corongiu, Daniela, Tranquilli, Stefania, Cuccu, Stefania, Rolesu, Marcella, Marrosu, Francesco, and Marrosu, Maria Giovanna
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- 2011
45. Parkin Exon Rearrangements and Sequence Variants in LRRK2 Mutations Carriers: Analysis on a PossibleModifier Effect on LRRK2 Penetrance.
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Solla, Paolo, Cannas, Antonino, Floris, Gianluca, Murru, Maria Rita, Corongiu, Daniela, Tranquilli, Stefania, Cuccu, Stefania, Rolesu, Marcella, Marrosu, Francesco, and Marrosu, Maria Giovanna
- Abstract
Mutations in LRRK2 represent the most common causes of Parkinson's disease (PD) identified to date, but their penetrance is incomplete and probably due to the presence of other genetic or environmental factors required for development of the disease.We analyzed the presence of parkin sequence variants (mutations or polymorphisms) and exon rearrangements in LRRK2 mutations carriers (both PD patients and unaffected relatives) in order to detect a possible modifier effect on penetrance. Eight families with nine PD patients with heterozygous LRRK2mutations (identified within 380 Sardinian PD patients screened for the presence of the five most common LRRK2 mutations) and sixteen additional relatives were genetically investigated for the presence of LRRK2 and parkin mutations. No evidence was found for the presence of pathological parkin mutations or exon rearrangements in patients or not affected family members. Three single-nucleotide polymorphisms (SNPs) were identified both in patients and unaffected relatives but did not significantly differ between the two groups. These data provide no support to the hypothesis whereby such parkin gene mutations may be commonly implicated in possible effect on penetrance in LRRK2 mutation carriers. [ABSTRACT FROM AUTHOR]
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- 2011
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46. Parkin Exon Rearrangements and Sequence Variants in LRRK2 Mutations Carriers: Analysis on a Possible Modifier Effect on LRRK2 Penetrance.
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Solla, Paolo, Cannas, Antonino, Floris, Gianluca, Murru, Maria Rita, Corongiu, Daniela, Tranquilli, Stefania, Cuccu, Stefania, Rolesu, Marcella, Marrosu, Francesco, and Marrosu, Maria Giovanna
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GENETIC mutation ,PARKINSON'S disease ,GENETIC polymorphisms ,GENETIC carriers ,HETEROZYGOSITY ,NUCLEOTIDES ,PATIENTS - Abstract
Mutations in LRRK2 represent the most common causes of Parkinson's disease (PD) identified to date, but their penetrance is incomplete and probably due to the presence of other genetic or environmental factors required for development of the disease.We analyzed the presence of parkin sequence variants (mutations or polymorphisms) and exon rearrangements in LRRK2 mutations carriers (both PD patients and unaffected relatives) in order to detect a possible modifier effect on penetrance. Eight families with nine PD patients with heterozygous LRRK2 mutations (identified within 380 Sardinian PD patients screened for the presence of the five most common LRRK2 mutations) and sixteen additional relatives were genetically investigated for the presence of LRRK2 and parkin mutations. No evidence was found for the presence of pathological parkin mutations or exon rearrangements in patients or not affected family members. Three single-nucleotide polymorphisms (SNPs) were identified both in patients and unaffected relatives but did not significantly differ between the two groups. These data provide no support to the hypothesis whereby such parkin gene mutations may be commonly implicated in possible effect on penetrance in LRRK2 mutation carriers. [ABSTRACT FROM AUTHOR]
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- 2010
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47. Semantic behavioral variant frontotemporal dementia and semantic dementia associated with <italic>TARDBP</italic> mutations.
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Piga, Giuseppe, Fadda, Laura, Borghero, Giuseppe, Maccabeo, Alessandra, Pala, Francesca, Murru, Maria Rita, Giglio, Sabrina, Puligheddu, Monica, and Floris, Gianluca
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- *
FRONTOTEMPORAL dementia , *MOTOR neuron diseases , *TEMPORAL lobe , *MISSENSE mutation , *NEURODEGENERATION - Abstract
AbstractFrontotemporal dementia (FTD) is a highly heritable group of neurodegenerative disorders, characterized by varying clinical and pathological features.
TARDBP gene has been described worldwide within the FTD/ALS spectrum but its association with right and left temporal variant of FTD (tvFTD) is still unclear. This study aimed to reclassify a Sardinian FTD cohort according to proposed criteria for the semantic behavioral variant FTD (sbvFTD), exploreTARDBP mutations’ association with tvFTD, and review related literature. From our FTD cohort of 94 patients, ten fulfilled the criteria for sbvFTD. Therefore, in light of the diagnostic reclassification carried out, we describe the largest series of unrelated patients withTARDBP p.A382T missense mutation, including four new cases of tvFTD: two sbvFTD and two svPPA, exhibiting semantic and behavioral disorders and showing predominant right and left anterior temporal lobe involvement, respectively. We present for the first time two sbvFTD cases carrying the pA382TTARDBP mutation. Comparison withC9orf72 and non-mutated patients revealed lower age at onset (p = 0.006), and a higher prevalence of tvFTD, particularly sbvFTD (p < 0.001), and motor neuron disease inTARDBP carriers (p < 0.001). Our findings along with a review of the literature highlightedTARDBP mutations’ association with sbvFTD and semantic dementia, suggesting a genetic role in temporal variants of FTD and emphasizing the need forTARDBP mutation screening in these cases. Reclassifying FTD cohorts, including the sbvFTD phenotype, could aid in better defining the clinical spectrum of tvFTD and guide differential diagnosis across different FTD populations withTARDBP or other FTD-related mutations. [ABSTRACT FROM AUTHOR]- Published
- 2024
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48. Influence of Dehydroepiandrosterone on G-6-PD Activity and 3H-Thymidine Uptake of Human Lymphocytes In Vitro.
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Ennas, Maria Grazia, Laconi, Sergio, Dessí, Sandra, Milia, Giovanna, Murru, Maria Rita, and Manconi, Paolo Emilio
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- 1987
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49. Lymphocyte subpopulations in blood and cerebrospinal fluid from patients with subacute sclerosing panencephalitis.
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Marrosu, Maria Giovanna, Cianchetti, Carlo, Tondi, Massimo, Ennas, Maria Grazia, Marrosu, Giovanni, Murru, Maria Rita, and Manconi, Paolo Emilio
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- 1983
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50. Role of Predisposing and Protective HLA-DQA and HLA-DQB Alleles in Sardinian Multiple Sclerosis
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Marrosu, Maria Giovanna, Muntoni, Francesco, Murru, Maria Rita, Costa, Gianna, Congia, Mauro, Marrosu, Giovanni, Aiello, Isidoro, Pirastu, Mario, and Cianchetti, Carlo
- Abstract
• OBJECTIVE. —To study the role of HLA genes in susceptibility and resistance to multiple sclerosis (MS) in Sardinian patients. To verify whether HLA-DQA and HLA-DQB genes differed between unrelated (MSU) and related (MSR) patients, and whether relapsing-remitting and chronic progressive forms of MS are immunogenetically distinct entities. DESIGN. —Case-control study of HLA-DQA and HLA-DQB gene frequency. SETTING. —All patients investigated were followed up by our MS referral centers. PATIENTS. —The study involved 116 MSU patients, 67 of whom had a relapsing-remitting form (MSr), 28 of whom had a chronic progressive from-the-onset form (MSc), and 21 of whom had a benign form (MSb), 32 patients with MSR, 19 parents and 27 healthy siblings of patients with MSR, and 86 controls. Selection of patients was random, while control subjects came from families without known immunologic diseases. All patients had definite MS. MAIN OUTCOME MEASURE. —Statistical analysis of gene frequencies was conducted with the ϰ2 test with correction (Pc) for the alleles investigated, as was decided before the study began. RESULTS. —The DQA1*0301 allele was found to be increased in patients (MSU vs controls, Pc=.008; patients with MSc vs controls, Pc=.001; patients with MSR vs controls, Pc=.02; and parents vs controls, Pc=.04), while the DQA1*0102 allele was found to be diminished in patients with MSr vs controls (Pc=.001 ). Among the DQB genes, the DQB1*0502 allele was diminished in patients with MSr vs controls (Pc=.04), while the sum of DQB1*0201 and *0302 alleles was significantly increased in patients with MSR vs controls (Pc=.003). CONCLUSION. —Both HLA-DQA and HLA-DQB genes influence genetic susceptibility and resistance to MS. The roles of these genes differ in the various forms of MS. Patients with MSU and MSR both share HLA-DQA susceptibility genes.
- Published
- 1993
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