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1. Additional file 6 of Changes in expression profiles of internal jugular vein wall and plasma protein levels in multiple sclerosis

Author

Marchetti, Giovanna, Ziliotto, Nicole, Meneghetti, Silvia, Baroni, Marcello, Lunghi, Barbara, Menegatti, Erica, Pedriali, Massimo, Salvi, Fabrizio, Bartolomei, Ilaria, Straudi, Sofia, Manfredini, Fabio, Voltan, Rebecca, Basaglia, Nino, Mascoli, Francesco, Zamboni, Paolo, and Bernardi, Francesco

Abstract

Table S6. Plasma protein levels in the 2nd MS population according to clinical phenotypes. (DOCX 18 kb)

Published
2018
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2. Additional file 4 of Changes in expression profiles of internal jugular vein wall and plasma protein levels in multiple sclerosis

Author

Marchetti, Giovanna, Ziliotto, Nicole, Meneghetti, Silvia, Baroni, Marcello, Lunghi, Barbara, Menegatti, Erica, Pedriali, Massimo, Salvi, Fabrizio, Bartolomei, Ilaria, Straudi, Sofia, Manfredini, Fabio, Voltan, Rebecca, Basaglia, Nino, Mascoli, Francesco, Zamboni, Paolo, and Bernardi, Francesco

Abstract

Table S4. qRT-PCR expression levels of selected genes in MS (n =â 7) vs control (n =â 4) jugular vein walls. (DOCX 21 kb)

Published
2018
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3. Additional file 5 of Changes in expression profiles of internal jugular vein wall and plasma protein levels in multiple sclerosis

Author

Marchetti, Giovanna, Ziliotto, Nicole, Meneghetti, Silvia, Baroni, Marcello, Lunghi, Barbara, Menegatti, Erica, Pedriali, Massimo, Salvi, Fabrizio, Bartolomei, Ilaria, Straudi, Sofia, Manfredini, Fabio, Voltan, Rebecca, Basaglia, Nino, Mascoli, Francesco, Zamboni, Paolo, and Bernardi, Francesco

Subjects
cardiovascular system
Abstract

Table S5. List of genes, differentially expressed in MS jugular vein walls (MS-IJW) compared to control vein walls (C-IJW), selected for protein level analysis in plasma. (DOCX 22 kb)

Published
2018
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4. Additional file 2 of Changes in expression profiles of internal jugular vein wall and plasma protein levels in multiple sclerosis

Author

Marchetti, Giovanna, Ziliotto, Nicole, Meneghetti, Silvia, Baroni, Marcello, Lunghi, Barbara, Menegatti, Erica, Pedriali, Massimo, Salvi, Fabrizio, Bartolomei, Ilaria, Straudi, Sofia, Manfredini, Fabio, Voltan, Rebecca, Basaglia, Nino, Mascoli, Francesco, Zamboni, Paolo, and Bernardi, Francesco

Abstract

Table S2. qRT-PCR Forward and Reverse Primers. (DOCX 15 kb)

Published
2018
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5. Additional file 1 of Changes in expression profiles of internal jugular vein wall and plasma protein levels in multiple sclerosis

Author

Marchetti, Giovanna, Ziliotto, Nicole, Meneghetti, Silvia, Baroni, Marcello, Lunghi, Barbara, Menegatti, Erica, Pedriali, Massimo, Salvi, Fabrizio, Bartolomei, Ilaria, Straudi, Sofia, Manfredini, Fabio, Voltan, Rebecca, Basaglia, Nino, Mascoli, Francesco, Zamboni, Paolo, and Bernardi, Francesco

Abstract

Table S1. Demographics and clinical characteristics of the 2nd study MS population. (DOCX 16 kb)

Published
2018
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6. Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Author

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.

Published
2010
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7. 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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8. Chronic cerebrospinal venous insufficiency in patients with multiple sclerosis

Author

Zamboni, Paolo, Galeotti, Roberto, Menegatti, Erica, Malagoni, Anna Maria, Tacconi, Giovanna, Dall'Ara, Sergio, Bartolomei, Ilaria, and Salvi, F.

Subjects
Adult, Male, medicine.medical_specialty, Multiple Sclerosis, Ultrasonography, Doppler, Transcranial, Posture, Venography, Constriction, Pathologic, Spinal Cord Diseases, NO, Multiple Sclerosis, Relapsing-Remitting, Internal medicine, medicine, Supine Position, Humans, In patient, Ultrasonography, Doppler, Color, Extracranial Vascular, medicine.diagnostic_test, business.industry, Multiple sclerosis, Clinical course, Healthy subjects, Venous haemodynamics, Middle Aged, medicine.disease, Research Papers, Magnetic Resonance Imaging, Spine, Surgery, Psychiatry and Mental health, Stenosis, Chronic cerebrospinal venous insufficiency, Cerebrovascular Disorders, Regional Blood Flow, Chronic Disease, Cardiology, Disease Progression, Female, Neurology (clinical), business
Abstract

Background: The extracranial venous outflow routes in clinically defined multiple sclerosis (CDMS) have not previously been investigated. Methods: Sixty-five patients affected by CDMS, and 235 controls composed, respectively, of healthy subjects, healthy subjects older than CDMS patients, patients affected by other neurological diseases and older controls not affected by neurological diseases but scheduled for venography (HAV-C) blindly underwent a combined transcranial and extracranial colour-Doppler high-resolution examination (TCCS-ECD) aimed at detecting at least two of five parameters of anomalous venous outflow. According to the TCCS-ECD screening, patients and HAV-C further underwent selective venography of the azygous and jugular venous system with venous pressure measurement. Results: CDMS and TCCS-ECD venous outflow anomalies were dramatically associated (OR 43, 95% CI 29 to 65, p

Published
2008

10. FUS mutations in a large series of sporadic and familial ALS

Author

Moglia, Cristina, Calvo, Andrea, Lai, Shiao-Lin, Abramzon, Yevgeniya, Schymick, Jennifer C., Guerreiro, Rita J., Stephan, Dietrich A., Dunckley, Travis, Mutani, Roberto, Gabriele Mora, Gallo, Sara, Giannini, Fabio, Battistini, Stefania, Salvi, Fabrizio, Bartolomei, Ilaria, Carlesi, Cecilia, Siciliano, Gabriele, Mandrioli, Jessica, Sola, Patrizia, Caponnetto, Claudia, Mancardi, Giovanni, Marinou, Kalliopi, Brunetti, Mauro, Conte, Amelia, Sabatelli, Mario, Valentino, Francesca, La Bella, Vincenzo, Tedeschi, Gioacchino, Monsurro, Maria Rosaria, Restagno, Gabriella, Traynor, Brian J., and Chio, Adriano

11. 11 C‐PK11195 PET–based molecular study of microglia activation in SOD1 amyotrophic lateral sclerosis

Author

Ilaria Bartolomei, Christian Lunetta, Leonardo Iaccarino, Fabrizio Salvi, Chiara Cerami, Daniela Perani, Lorena Mosca, Giovanna Vanoli, Angela Coliva, Giacomo Tondo, Luca Presotto, Valeria Masiello, Tondo, Giacomo, Iaccarino, Leonardo, Cerami, Chiara, Vanoli, Giovanna Emilia, Presotto, Luca, Masiello, Valeria, Coliva, Angela, Salvi, Fabrizio, Bartolomei, Ilaria, Mosca, Lorena, Lunetta, Christian, Perani, Daniela, Tondo, G, Iaccarino, L, Cerami, C, Vanoli, G, Presotto, L, Masiello, V, Coliva, A, Salvi, F, Bartolomei, I, Mosca, L, Lunetta, C, and Perani, D

Subjects
0301 basic medicine, Cerebellum, SOD1, Thalamus, prion disease, Neurosciences. Biological psychiatry. Neuropsychiatry, Gene mutation, 03 medical and health sciences, 0302 clinical medicine, medicine, Amyotrophic lateral sclerosis, RC346-429, Neuroinflammation, Research Articles, Microglia, business.industry, General Neuroscience, Neurodegeneration, full quantification, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, nervous system, kinetic modelling, Neurology. Diseases of the nervous system, Neurology (clinical), business, Neuroscience, 030217 neurology & neurosurgery, RC321-571, Research Article
Abstract

Objective Neuroinflammation is considered a key driver for neurodegeneration in several neurological diseases, including amyotrophic lateral sclerosis (ALS). SOD1 mutations cause about 20% of familial ALS, and related pathology might generate microglial activation triggering neurodegeneration. 11 C-PK11195 is the prototypical and most validated PET radiotracer, targeting the 18-kDa translocator protein which is overexpressed in activated microglia. In this study, we investigated microglia activation in asymptomatic (ASYM) and symptomatic (SYM) SOD1 mutated carriers, by using 11 C-PK11195 and PET imaging. Methods We included 20 subjects: 4 ASYM-carriers, neurologically normal, 6 SYM-carriers with probable ALS, and 10 healthy controls. A receptor parametric mapping procedure estimated 11 C-PK11195 binding potentials and voxel-wise statistical comparisons were performed at group and single-subject levels. Results Both the SYM- and ASYM-carriers showed significant microglia activation in cortical and subcortical structures, with variable patterns at individual level. Clusters of activation were present in occipital and temporal regions, cerebellum, thalamus, and medulla oblongata. Notably, SYM-carriers showed microglia activation also in supplementary and primary motor cortices and in the somatosensory regions. Interpretation In vivo neuroinflammation occurred in all SOD1 mutated cases since the presymptomatic stages, as shown by a significant cortical and subcortical microglia activation. The involvement of sensorimotor cortex became evident at the symptomatic disease stage. Although our data indicate the role of in vivo PET imaging for assessing resident microglia in the investigation of SOD1-ALS pathophysiology, further studies are needed to clarify the temporal and spatial dynamics of microglia activation and its relationship with neurodegeneration.

Published
2020

12. Prevalence and Psychopathological Determinants of Sexual Dysfunction and Related Distress in Women With and Without Multiple Sclerosis

Author

Maria Cristina Meriggiola, Matteo Visconti, Renato Seracchioli, Ilaria Bartolomei, Giulia Gava, Fabrizio Salvi, Gava, Giulia, Visconti, Matteo, Salvi, Fabrizio, Bartolomei, Ilaria, Seracchioli, Renato, and Meriggiola, Maria Cristina

Subjects
Adult, Multiple Sclerosis, Urology, Endocrinology, Diabetes and Metabolism, Sexual Behavior, Female sexual dysfunction, 030232 urology & nephrology, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Surveys and Questionnaires, Multiple Sclerosi, medicine, Prevalence, Humans, Sexual Dysfunctions, Psychological, Sexual Function, Aged, 030219 obstetrics & reproductive medicine, Expanded Disability Status Scale, Disability, business.industry, Depression, Beck Depression Inventory, Middle Aged, medicine.disease, Psychiatry and Mental health, Distress, Sexual Dysfunction, Physiological, Sexual dysfunction, Reproductive Medicine, Italy, Premenopause, Cohort, Female Sexual Dysfunction, Female, medicine.symptom, Sexual function, business, Sexuality, Stress, Psychological, Clinical psychology, Psychopathology
Abstract

Introduction Sexual dysfunction (SD) is common but still underdiagnosed in women with multiple sclerosis (MS); in fact, the lack of a consistent use of validated diagnostic tools makes the prevalence of SD and related distress difficult to define precisely. Aim To assess the prevalence of SD in Italian women with MS compared with age-matched healthy control subjects (HC) and the association with demographic, psychological, and MS-related characteristics. Methods The Female Sexual Function Index (FSFI) and the Female Sexual Distress Scale were administered to 153 women with MS and 153 HC. Demographic, gynecologic, and neurologic data were obtained. Disability was assessed using the Expanded Disability Status Scale. Psychological symptoms were evaluated in MS patients with Profile of Mood State and the Beck Depression Inventory II. Main Outcomes Measures Prevalence of SD and sexual distress in women with MS compared with HC. Results Among women sexually active in the last month, we found an increased prevalence of SD in MS patients compared with HC subjects (42.0% vs 16.0%, P = .0001). The prevalence of dysfunctional FSFI global scores ( Clinical Implications This study suggests that sexual function investigation should always be a standard part of the consultation with healthcare professionals for MS. Strength & Limitations The strength of this study was the comparison with an age-matched healthy control group and the use of validated questionnaires to assess both sexual function and sexual distress. Larger and multicenter studies may further support our findings. Conclusion In our cohort, the prevalence of SD and sexual distress was higher in women with MS compared to the HC group. Age, disability, and depressive symptoms were associated with increased SD.

Published
2018

13. Long-term influence of combined oral contraceptive use on the clinical course of relapsing–remitting multiple sclerosis

Author

Stefano Venturoli, Maria Cristina Meriggiola, Ilaria Bartolomei, Giulia Gava, Marta Berra, Fabrizio Salvi, Antonietta Costantino, Gava, Giulia, Bartolomei, Ilaria, Costantino, Antonietta, Berra, Marta, Venturoli, Stefano, Salvi, Fabrizio, and Meriggiola, Maria Cristina

Subjects
Time Factors, Kaplan-Meier Estimate, Disease, neurologic outcome, Severity of Illness Index, sex steroid, Disability Evaluation, Risk Factors, oral contraceptive, Retrospective Studie, Medicine, Academic Medical Centers, education.field_of_study, Obstetrics and Gynecology, Middle Aged, Multiple Sclerosis, Chronic Progressive, Prognosis, Academic Medical Center, Contraceptives, Oral, Combined, Italy, Family planning, multiple sclerosi, Disease Progression, Female, Developed country, Human, Adult, medicine.medical_specialty, Time Factor, Prognosi, medicine.drug_class, Population, Drug Administration Schedule, Contraceptives, Oral, Hormonal, Multiple Sclerosis, Relapsing-Remitting, Internal medicine, Humans, education, Retrospective Studies, Cross-Sectional Studie, Disability, Expanded Disability Status Scale, business.industry, Risk Factor, Multiple sclerosis, Retrospective cohort study, medicine.disease, Cross-Sectional Studies, Reproductive Medicine, Physical therapy, business, Progestin
Abstract

Objective To assess the long-term effects of combined oral contraceptives (COCs) on the clinical course of relapsing–remitting multiple sclerosis (RRMS), focusing on disability progression and evolution to secondary-progressive multiple sclerosis (SPMS). Design Retrospective and exploratory study. Setting Academic medical center. Patient(s) A total of 174 women with clinically confirmed MS; of these, 33 had evolved to SPMS at the time of enrollment in the study, whereas 141 still had a relapsing–remitting form of disease. Intervention(s) Women were interviewed to obtain gynecologic and obstetric history. Main Outcome Measure(s) Expanded Disability Status Scale (EDSS); Multiple Sclerosis Severity Score (MSSS); annualized relapse rate; evolution to SPMS. Result(s) Mean ± SD duration of disease was 14.3 ± 9.8 years. Compared with non-users of COCs, COC users had lower EDSS scores and MSSS only in the subset of the population with prior or current immunomodulatory treatment. Nonuse of COCs was a predictor of disease evolution in SPMS, whether treated or not with immunomodulatory drugs. The annualized relapse rate was not influenced by COC use. No differences in EDSS scores and evolution to SPMS depending on COC formulation were detected. Conclusion(s) Our results suggest that COC use is associated with a less severe disease and less severe evolution. Whether different doses or types of progestin may have different effects remains to be defined.

Published
2014
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14. 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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