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1. Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia

Author

Bussy, A., Levy, J., Best, T., Patel, R., Cupo, L., Van Langenhove, T., Nielsen, J., Pijnenburg, Y., Waldö, M., Remes, A., Schroeter, M., Santana, I., Pasquier, F., Otto, M., Danek, A., Levin, J., Le Ber, I., Vandenberghe, R., Synofzik, M., Moreno, F., de Mendonça, A., Sanchez‐Valle, R., Laforce, R., Langheinrich, T., Gerhard, A., Graff, C., Butler, C., Sorbi, S., Jiskoot, L., Seelaar, H., van Swieten, J., Finger, E., Tartaglia, M., Masellis, M., Tiraboschi, P., Galimberti, D., Borroni, B., Rowe, J., Bocchetta, M., Rohrer, J., Devenyi, G., Chakravarty, M., Ducharme, S., Esteve, A., Nelson, A., Bouzigues, A., Heller, C., Greaves, C., Cash, D., Thomas, D., Todd, E., Benotmane, H., Zetterberg, H., Swift, I., Nicholas, J., Samra, K., Russell, L., Shafei, R., Convery, R., Timberlake, C., Cope, T., Rittman, T., Benussi, A., Premi, E., Gasparotti, R., Archetti, S., Gazzina, S., Cantoni, V., Arighi, A., Fenoglio, C., Scarpini, E., Fumagalli, G., Borracci, V., Rossi, G., Giaccone, G., Di Fede, G., Caroppo, P., Prioni, S., Redaelli, V., Tang‐Wai, D., Rogaeva, E., Castelo‐Branco, M., Freedman, M., Keren, R., Black, S., Mitchell, S., Shoesmith, C., Bartha, R., Rademakers, R., Poos, J., Papma, J., Giannini, L., van Minkelen, R., Nacmias, B., Ferrari, C., Polito, C., Lombardi, G., Bessi, V., Veldsman, M., Andersson, C., Thonberg, H., Öijerstedt, L., Jelic, V., Thompson, P., Lladó, A., Antonell, A., Olives, J., Balasa, M., Bargalló, N., Borrego‐Ecija, S., Verdelho, A., Maruta, C., Ferreira, C., Miltenberger, G., do Couto, F., Gabilondo, A., Gorostidi, A., Villanua, J., Cañada, M., Tainta, M., Zulaica, M., Barandiaran, M., Alves, P., Bender, B., Wilke, C., Graf, L., Vogels, A., Vandenbulcke, M., Van Damme, P., Bruffaerts, R., Poesen, K., Rosa‐Neto, P., Gauthier, S., Camuzat, A., Brice, A., Bertrand, A., Funkiewiez, A., Rinaldi, D., Saracino, D., Colliot, O., Sayah, S., Prix, C., Wlasich, E., Wagemann, O., Loosli, S., Schönecker, S., Hoegen, T., Lombardi, J., Anderl‐Straub, S., Rollin, A., Kuchcinski, G., Bertoux, M., Lebouvier, T., Deramecourt, V., Santiago, B., Duro, D., Leitão, M., Almeida, M., Tábuas‐Pereira, M., Afonso, S., Engel, A., Polyakova, M., Erasmus MC other, Neurology, Radiology & Nuclear Medicine, Clinical Genetics, GENetic Frontotemporal dementia Initiative (GENFI), Lombardi, Gemma, Bessi, Valentina, Veldsman, Michele, Andersson, Christin, Thonberg, Hakan, Öijerstedt, Linn, Jelic, Vesna, Thompson, Paul, Langheinrich, Tobias, Lladó, Albert, Antonell, Anna, Olives, Jaume, Balasa, Mircea, Bargalló, Nuria, Borrego-Ecija, Sergi, Verdelho, Ana, Maruta, Carolina, Ferreira, Catarina B, Miltenberger, Gabriel, do Couto, Frederico Simões, Gabilondo, Alazne, Gorostidi, Ana, Villanua, Jorge, Cañada, Marta, Tainta, Mikel, Zulaica, Miren, Barandiaran, Myriam, Alves, Patricia, Bender, Benjamin, Wilke, Carlo, Graf, Lisa, Vogels, Annick, Vandenbulcke, Mathieu, Van Damme, Philip, Bruffaerts, Rose, Poesen, Koen, Rosa-Neto, Pedro, Gauthier, Serge, Camuzat, Agnès, Brice, Alexis, Bertrand, Anne, Funkiewiez, Aurélie, Rinaldi, Daisy, Saracino, Dario, Colliot, Olivier, Sayah, Sabrina, Prix, Catharina, Wlasich, Elisabeth, Wagemann, Olivia, Loosli, Sandra, Schönecker, Sonja, Hoegen, Tobias, Lombardi, Jolina, Anderl-Straub, Sarah, Rollin, Adeline, Kuchcinski, Gregory, Bertoux, Maxime, Lebouvier, Thibaud, Deramecourt, Vincent, Santiago, Beatriz, Duro, Diana, Leitão, Maria João, Almeida, Maria Rosario, Tábuas-Pereira, Miguel, Afonso, Sónia, Engel, Annerose, Polyakova, Maryna, Esteve, Aitana Sogorb, Nelson, Annabel, Bouzigues, Arabella, Heller, Carolin, Greaves, Caroline V, Cash, David, Thomas, David L, Todd, Emily, Benotmane, Hanya, Zetterberg, Henrik, Swift, Imogen J, Nicholas, Jennifer, Samra, Kiran, Russell, Lucy L, Bocchetta, Martina, Shafei, Rachelle, Convery, Rhian S, Timberlake, Carolyn, Cope, Thomas, Rittman, Timothy, Benussi, Alberto, Premi, Enrico, Gasparotti, Roberto, Archetti, Silvana, Gazzina, Stefano, Cantoni, Valentina, Arighi, Andrea, Fenoglio, Chiara, Scarpini, Elio, Fumagalli, Giorgio, Borracci, Vittoria, Rossi, Giacomina, Giaccone, Giorgio, Di Fede, Giuseppe, Caroppo, Paola, Tiraboschi, Pietro, Prioni, Sara, Redaelli, Veronica, Tang-Wai, David, Rogaeva, Ekaterina, Castelo-Branco, Miguel, Freedman, Morris, Keren, Ron, Black, Sandra, Mitchell, Sara, Shoesmith, Christen, Bartha, Robart, Rademakers, Rosa, Poos, Jackie, Papma, Janne M, Giannini, Lucia, van Minkelen, Rick, Pijnenburg, Yolande, Nacmias, Benedetta, Ferrari, Camilla, Polito, Cristina, Bussy, Aurélie [0000-0001-6695-9941], Nielsen, Jørgen E [0000-0003-0453-5582], Borroni, Barbara [0000-0001-9340-9814], Bocchetta, Martina [0000-0003-1814-5024], Devenyi, Gabriel A [0000-0002-7766-1187], Apollo - University of Cambridge Repository, and Amsterdam Neuroscience - Neurodegeneration

Subjects
C9orf72 Protein, Radiological and Ultrasound Technology, Medizin, frontotemporal dementia, Neurology, Frontotemporal Dementia, Cerebellum, Humans, magnetic resonance imaging, genetics, neuropsychiatry, Radiology, Nuclear Medicine and imaging, Human medicine, ddc:610, Neurology (clinical), Atrophy, Anatomy, genetics [Frontotemporal Dementia], genetics [C9orf72 Protein]
Abstract

Funder: Alzheimer Society of Canada; Id: http://dx.doi.org/10.13039/501100000143, Funder: Weston Brain Institute; Id: http://dx.doi.org/10.13039/100012479, Funder: Fonds de Recherche du Québec ‐ Santé, Funder: Canadian Institutes of Health Research; Id: http://dx.doi.org/10.13039/501100000024, Funder: NIHR Rare Diseases Translational Research Collaboration, Funder: Deutsche Forschungsgemeinschaft; Id: http://dx.doi.org/10.13039/501100001659, Recent studies have reported early cerebellar and subcortical impact in the disease progression of genetic frontotemporal dementia (FTD) due to microtubule-associated protein tau (MAPT), progranulin (GRN) and chromosome 9 open reading frame 72 (C9orf72). However, the cerebello-subcortical circuitry in FTD has been understudied despite its essential role in cognition and behaviors related to FTD symptomatology. The present study aims to investigate the association between cerebellar and subcortical atrophy, and neuropsychiatric symptoms across genetic mutations. Our study included 983 participants from the Genetic Frontotemporal dementia Initiative including mutation carriers and noncarrier first-degree relatives of known symptomatic carriers. Voxel-wise analysis of the thalamus, striatum, globus pallidus, amygdala, and the cerebellum was performed, and partial least squares analyses (PLS) were used to link morphometry and behavior. In presymptomatic C9orf72 expansion carriers, thalamic atrophy was found compared to noncarriers, suggesting the importance of this structure in FTD prodromes. PLS analyses demonstrated that the cerebello-subcortical circuitry is related to neuropsychiatric symptoms, with significant overlap in brain/behavior patterns, but also specificity for each genetic mutation group. The largest differences were in the cerebellar atrophy (larger extent in C9orf72 expansion group) and more prominent amygdalar volume reduction in the MAPT group. Brain scores in the C9orf72 expansion carriers and MAPT carriers demonstrated covariation patterns concordant with atrophy patterns detectable up to 20 years before expected symptom onset. Overall, these results demonstrated the important role of the subcortical structures in genetic FTD symptom expression, particularly the cerebellum in C9orf72 and the amygdala in MAPT carriers.

Published
2023

2. Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales

Author

Samra, K, MacDougall, AM, Peakman, G, Bouzigues, A, Bocchetta, M, Cash, DM, Greaves, CV, Convery, RS, van Swieten, JC, Jiskoot, L, Seelaar, H, Butler, CR, Fenoglio, C, Rohrer, JD, Gerhard, A, Ducharme, S, Le Ber, I, Tiraboschi, P, Santana, I, Pasquier, F, Levin, J, Shoesmith, C, Otto, M, Russell, LL, Nelson, A, Cash, D, Thomas, DL, Todd, E, Ferrari, C, Benotmane, H, Timberlake, C, Gabilondo, A, Cope, T, Rittman, T, Benussi, A, Premi, E, Gasparotti, R, Thompson, P, Archetti, S, Fumagalli, G, do Couto, FS, Borracci, V, Polito, C, Rossi, G, Giaccone, G, Di Fede, G, Caroppo, P, Ferreira, CB, Prioni, S, Langheinrich, T, Redaelli, V, Lladó, A, Bartha, R, Tang-Wai, D, Rogaeva, E, Castelo-Branco, M, Freedman, M, Keren, R, Black, S, Mitchell, S, Miltenberger, G, Rademakers, R, Poos, J, Papma, JM, Giannini, L, van Minkelen, R, Pijnenburg, Y, Gauthier, S, Nacmias, B, Lombardi, G, Bessi, V, Veldsman, M, Andersson, C, Thonberg, H, Öijerstedt, L, Prix, C, Jelic, V, Antonell, A, Graff, C, Olives, J, Balasa, M, Bargalló, N, Borrego-Ecija, S, Verdelho, A, Kuchcinski, G, Maruta, C, Gorostidi, A, Laforce, R, Villanua, J, Wlasich, E, Cañada, M, Tainta, M, Zulaica, M, Barandiaran, M, Moreno, F, Alves, P, Bender, B, Bertoux, M, Wilke, C, Lebouvier, T, Camuzat, A, Graf, L, Vogels, A, Vandenbulcke, M, Van Damme, P, Bruffaerts, R, Poesen, K, Rosa-Neto, P, Sanchez-Valle, R, Brice, A, Bertrand, A, Funkiewiez, A, Rinaldi, D, Saracino, D, Colliot, O, Sorbi, S, Sayah, S, Wagemann, O, Loosli, S, Schönecker, S, Hoegen, T, Lombardi, J, Anderl-Straub, S, Nicholas, J, Rollin, A, Deramecourt, V, Arighi, A, Santiago, B, Duro, D, Leitão, MJ, Almeida, MR, Tábuas-Pereira, M, Gazzina, S, Afonso, S, Masellis, M, Tartaglia, C, Shafei, R, Rowe, JB, Borroni, B, Finger, E, Synofzik, M, Galimberti, D, Vandenberghe, R, de Mendonça, A, Cantoni, V, Genetic FTD Initiative (GENFI), Samra, Kiran [0000-0002-3105-7099], Apollo - University of Cambridge Repository, Maruta, Carolina, Ferreira, Catarina B, Miltenberger, Gabriel, do Couto, Frederico Simões, Gabilondo, Alazne, Gorostidi, Ana, Villanua, Jorge, Cañada, Marta, Tainta, Mikel, Zulaica, Miren, Barandiaran, Myriam, Alves, Patricia, Bender, Benjamin, Wilke, Carlo, Graf, Lisa, Vogels, Annick, Vandenbulcke, Mathieu, Van Damme, Philip, Bruffaerts, Rose, Poesen, Koen, Rosa-Neto, Pedro, Gauthier, Serge, Camuzat, Agnès, Brice, Alexis, Bertrand, Anne, Funkiewiez, Aurélie, Rinaldi, Daisy, Saracino, Dario, Colliot, Olivier, Sayah, Sabrina, Prix, Catharina, Wlasich, Elisabeth, Wagemann, Olivia, Loosli, Sandra, Schönecker, Sonja, Hoegen, Tobias, Lombardi, Jolina, Anderl-Straub, Sarah, Rollin, Adeline, Kuchcinski, Gregory, Bertoux, Maxime, Lebouvier, Thibaud, Deramecourt, Vincent, Santiago, Beatriz, Duro, Diana, Leitão, Maria João, Almeida, Maria Rosario, Tábuas-Pereira, Miguel, Afonso, Sónia, Nelson, Annabel, Bocchetta, Martina, Cash, David, Thomas, David L, Todd, Emily, Benotmane, Hanya, Nicholas, Jennifer, Samra, Kiran, Shafei, Rachelle, Timberlake, Carolyn, Cope, Thomas, Rittman, Timothy, Benussi, Alberto, Premi, Enrico, Gasparotti, Roberto, Archetti, Silvana, Gazzina, Stefano, Cantoni, Valentina, Arighi, Andrea, Fenoglio, Chiara, Fumagalli, Giorgio, Borracci, Vittoria, Rossi, Giacomina, Giaccone, Giorgio, Di Fede, Giuseppe, Caroppo, Paola, Tiraboschi, Pietro, Prioni, Sara, Redaelli, Veronica, Tang-Wai, David, Rogaeva, Ekaterina, Castelo-Branco, Miguel, Freedman, Morris, Keren, Ron, Black, Sandra, Mitchell, Sara, Shoesmith, Christen, Bartha, Robart, Rademakers, Rosa, Poos, Jackie, Papma, Janne M, Giannini, Lucia, van Minkelen, Rick, Pijnenburg, Yolande, Nacmias, Benedetta, Ferrari, Camilla, Polito, Cristina, Lombardi, Gemma, Bessi, Valentina, Veldsman, Michele, Andersson, Christin, Thonberg, Hakan, Öijerstedt, Linn, Jelic, Vesna, Thompson, Paul, Langheinrich, Tobias, Lladó, Albert, Antonell, Anna, Olives, Jaume, Balasa, Mircea, Bargalló, Nuria, Borrego-Ecija, Sergi, and Verdelho, Ana

Subjects
Progranulin, Clinical Neurology, C9ORF72, tau Proteins, AMYOTROPHIC-LATERAL-SCLEROSIS, diagnosis [Frontotemporal Dementia], C9orf72, Tremor, Genetics, Humans, ddc:610, genetics [Frontotemporal Dementia], genetics [C9orf72 Protein], MUTATION, Science & Technology, C9orf72 Protein, HERITABILITY, Amyotrophic Lateral Sclerosis, PROGRESSIVE SUPRANUCLEAR PALSY, COGNITIVE IMPAIRMENT, REPEAT EXPANSION, genetics [tau Proteins], Motor, PATHOLOGICAL FEATURES, Neurology, FOS: Biological sciences, Frontotemporal Dementia, Mutation, Human medicine, Neurosciences & Neurology, Neurology (clinical), Tau, TAU, Life Sciences & Biomedicine, Frontotemporal dementia, PARKINSONISM
Abstract

Funder: CIBERNED, Funder: Canadian Institutes of Health Research; doi: http://dx.doi.org/10.13039/501100000024, Funder: Lemaire Family Foundation, Funder: Swedish Frontotemporal Dementia Initiative, Funder: Italian Ministry of Health, Funder: Weston Brain Institute; doi: http://dx.doi.org/10.13039/100012479, Funder: Mady Browaaeys Fund, Funder: Miriam Marks Brain Research UK, Funder: Bluefield Project, OBJECTIVE: To investigate the optimal method of adding motor features to a clinical rating scale for frontotemporal dementia (FTD). METHODS: Eight hundred and thirty-two participants from the international multicentre Genetic FTD Initiative (GENFI) study were recruited: 522 mutation carriers (with C9orf72, GRN and MAPT mutations) and 310 mutation-negative controls. A standardised clinical questionnaire was used to assess eight motor symptoms (dysarthria, dysphagia, tremor, slowness, weakness, gait disorder, falls and functional difficulties using hands). Frequency and severity of each motor symptom was assessed, and a principal component analysis (PCA) was performed to identify how the different motor symptoms loaded together. Finally, addition of a motor component to the CDR® plus NACC FTLD was investigated (CDR® plus NACC FTLD-M). RESULTS: 24.3% of mutation carriers had motor symptoms (31.7% C9orf72, 18.8% GRN, 19.3% MAPT) compared to 6.8% of controls. Slowness and gait disorder were the commonest in all genetic groups while tremor and falls were the least frequent. Symptom severity scores were similar to equivalent physical motor examination scores. PCA revealed that all motor symptoms loaded together so a single additional motor component was added to the CDR® plus NACC FTLD to form the CDR® plus NACC FTLD-M. Individual global scores were more severe with the CDR® plus NACC FTLD-M, and no patients with a clinically diagnosed motor disorder (ALS/FTD-ALS or parkinsonism) were classified anymore as asymptomatic (unlike the CDR® plus NACC FTLD alone). CONCLUSIONS: Motor features are present in mutation carriers at all disease stages across all three genetic groups. Inclusion of motor symptoms in a rating scale that can be used in future clinical trials will not only ensure a more accurate severity measure is recorded but that a wider spectrum of FTD phenotypes can be included in the same trial.

Published
2022

3. Modelling the cascade of biomarker changes in GRN-related frontotemporal dementia

Author

Panman, J. L., Venkatraghavan, V., Van Der Ende, E. L., Steketee, R. M. E., Jiskoot, L. C., Poos, J. M., Dopper, E. G. P., Meeter, L. H. H., Kaat, L. D., Rombouts, S. A. R. B., Vernooij, M. W., Kievit, A. J. A., Premi, E., Cosseddu, M., Bonomi, E., Olives, J., Rohrer, J. D., Sanchez-Valle, R., Borroni, B., Bron, E. E., Van Swieten, J. C., Papma, J. M., Klein, S., Afonso, S., Almeida, M. R., Anderl-Straub, S., Andersson, C., Antonell, A., Archetti, S., Arighi, A., Balasa, M., Barandiaran, M., Bargallo, N., Bartha, R., Bender, B., Black, S., Butler, C., Bocchetta, M., Borrego-Ecija, S., Bras, J., Bruffaerts, R., Caroppo, P., Cash, D., Castelo-Branco, M., Convery, R., Cope, T., Danek, A., De Arriba, M., De Mendonca, A., Di Fede, G., Diaz, Z., Ducharme, S., Duro, D., Fenoglio, C., Ferreira, C. B., Finger, E., Flanagan, T., Fox, N., Freedman, M., Fumagalli, G., Gabilondo, A., Galimberti, D., Gasparotti, R., Gauthier, S., Gazzina, S., Gerhard, A., Giaccone, G., Gorostidi, A., Graff, C., Greaves, C., Guerreiro, R., Heller, C., Hoegen, T., Indakoetxea, B., Jelic, V., Karnath, H. -O., Keren, R., Laforce, R., Leitao, M. J., Levin, J., Llado, A., Loosli, S., Maruta, C., Masellis, M., Mead, S., Miltenberger, G., Van Minkelenm Sara Mitchell, R., Moore, K., Moreno, F., Nicholas, J., Oijerstedt, L., Otto, M., Ourselin, S., Padovani, A., Peakman, G., Pijnenburg, Y., Polito, C., Prioni, S., Prix, C., Rademakers, R., Redaelli, V., Rittman, T., Rogaeva, E., Rosa-Neto, P., Rossi, G., Rosser, M., Rowe, J., Santana, I., Santiago, B., Scarpini, E., Schonecker, S., Shafei, E. S. R., Shoesmith, C., Synofzik, M., Tabuas-Pereira, M., Tagliavini, F., Tartaglia, C., Tainta, M., Taipa, R., Tang-Wai, D., Thomas, D. L., Thonberg, H., Timberlake, C., Tiraboschi, P., Todd, E., Vandamme, P., Vandenberghe, R., Vandenbulcke, M., Veldsman, M., Verdelho, A., Villanua, J., Warren, J., Wilkeione, C., Elisabeth, W., Henrik, W., Zulaica, Z. M., Neurology, Physics and medical technology, Radiology & Nuclear Medicine, Clinical Genetics, and Medical Research Council

Subjects
Male, Oncology, Disease, Neuropsychological Tests, GENFI consortium investigators, Primary progressive aphasia, Cognition, Progranulins, 0302 clinical medicine, Neurofilament Proteins, BEHAVIORAL VARIANT, HETEROGENEITY, Gray Matter, 11 Medical and Health Sciences, Language, Psychiatry, 0303 health sciences, Brain, Middle Aged, Magnetic Resonance Imaging, White Matter, 17 Psychology and Cognitive Sciences, ALZHEIMERS-DISEASE, Psychiatry and Mental health, Phenotype, medicine.anatomical_structure, Frontotemporal Dementia, Disease Progression, Biomarker (medicine), Female, Life Sciences & Biomedicine, Frontotemporal dementia, medicine.medical_specialty, Clinical Neurology, EVENT-BASED MODEL, Grey matter, Lateralization of brain function, White matter, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, NEUROFILAMENT LIGHT-CHAIN, medicine, Humans, LOBAR DEGENERATION, PROGRANULIN, Aged, 030304 developmental biology, Science & Technology, Neurology & Neurosurgery, business.industry, DISEASE PROGRESSION, medicine.disease, Mutation, WHITE-MATTER INTEGRITY, Surgery, Neurosciences & Neurology, Neurology (clinical), business, GENFI, Biomarkers, 030217 neurology & neurosurgery, Progressive disease
Abstract

ObjectiveProgranulin-related frontotemporal dementia (FTD-GRN) is a fast progressive disease. Modelling the cascade of multimodal biomarker changes aids in understanding the aetiology of this disease and enables monitoring of individual mutation carriers. In this cross-sectional study, we estimated the temporal cascade of biomarker changes for FTD-GRN, in a data-driven way.MethodsWe included 56 presymptomatic and 35 symptomatic GRN mutation carriers, and 35 healthy non-carriers. Selected biomarkers were neurofilament light chain (NfL), grey matter volume, white matter microstructure and cognitive domains. We used discriminative event-based modelling to infer the cascade of biomarker changes in FTD-GRN and estimated individual disease severity through cross-validation. We derived the biomarker cascades in non-fluent variant primary progressive aphasia (nfvPPA) and behavioural variant FTD (bvFTD) to understand the differences between these phenotypes.ResultsLanguage functioning and NfL were the earliest abnormal biomarkers in FTD-GRN. White matter tracts were affected before grey matter volume, and the left hemisphere degenerated before the right. Based on individual disease severities, presymptomatic carriers could be delineated from symptomatic carriers with a sensitivity of 100% and specificity of 96.1%. The estimated disease severity strongly correlated with functional severity in nfvPPA, but not in bvFTD. In addition, the biomarker cascade in bvFTD showed more uncertainty than nfvPPA.ConclusionDegeneration of axons and language deficits are indicated to be the earliest biomarkers in FTD-GRN, with bvFTD being more heterogeneous in disease progression than nfvPPA. Our data-driven model could help identify presymptomatic GRN mutation carriers at risk of conversion to the clinical stage.

Published
2021

5. Abnormal pain perception is associated with thalamo-cortico-striatal atrophy in C9orf72 expansion carriers in the GENFI cohort

Author

Convery, Rhian S, Bocchetta, Martina, Masellis, Mario, Afonso, S., Taipa, R., Caroppo, P., Di Fede, G., Giaccone, G., Prioni, S., Redaelli, V., Rossi, G., Tiraboschi, P., Duro, D., Tartaglia, Maria Carmela, Almeida, M. R., Branco, M. C., Leitão, M. J., Tabuas-Pereira, M., Santiago, B., Gauthier, S., Rosa-Neto, P., Veldsman, M., Flanagan, T., Prix, C., Graff, Caroline, Hoegen, T., Wlasich, E., Loosli, S., Schonecker, S., Semler, E., Anderl-Straub, S., Galimberti, Daniela, Rowe, James B, Finger, Elizabeth, Synofzik, Matthis, Vandenberghe, Rik, de Mendonca, Alexandre, Tagliavini, Fabrizio, Greaves, Caroline V, Santana, Isabel, Ducharme, Simon, Butler, Christopher, Gerhard, Alex, Levin, Johannes, Danek, Adrian, Otto, Markus, Warren, Jason D, Rohrer, Jonathan D, Initiative, Genetic FTD, Moore, Katrina M, Rossor, M. N., Fox, N. C., Woollacott, I. O. C., Shafei, R., Heller, C., Peakman, G., Swift, I., Todd, E., Guerreiro, R., Bras, J., Cash, David M, Thomas, D. L., Nicholas, J., Mead, S., Jiskoot, L., Meeter, L., Panman, J., Papma, J., van Minkelen, R., Pijnenburg, Y., Barandiara, M., Van Swieten, John, Indakoetxea, B., Gabilondo, A., Tainta, M., de Arriba, M., Gorostidi, A., Zulaica, M., Villanua, J., Diaz, Z., Borrego-Ecija, S., Olives, J., Moreno, Fermin, Lladó, A., Balasa, M., Antonell, A., Bargallo, N., Premi, E., Cosseddu, M., Gazzina, S., Padovani, A., Gasparotti, R., Archetti, S., Sánchez-Valle, Raquel, Black, S., Mitchell, S., Rogaeva, E., Freedman, M., Keren, R., Tang-Wai, D., Öijerstedt, L., Andersson, C., Jelic, V., Thonberg, H., Borroni, Barbara, Arighi, A., Fenoglio, C., Scarpini, E., Fumagalli, G., Cope, T., Timberlake, C., Rittman, T., Shoesmith, C., Bartha, R., Rademakers, R., Laforce, Robert, Wilke, C., Karnarth, H-O, Bender, B., Bruffaerts, R., Vandamme, P., Vandenbulcke, M., Ferreira, C. B., Miltenberger, G., Maruta, C., Verdelho, A., Convery, Rhian S [0000-0002-9477-1812], Bocchetta, Martina [0000-0003-1814-5024], Greaves, Caroline V [0000-0002-6446-1960], Moore, Katrina M [0000-0002-4458-8390], Van Swieten, John [0000-0001-6278-6844], Borroni, Barbara [0000-0001-9340-9814], Rowe, James B [0000-0001-7216-8679], Finger, Elizabeth [0000-0003-4461-7427], Otto, Markus [0000-0002-6647-5944], Rohrer, Jonathan D [0000-0002-6155-8417], Apollo - University of Cambridge Repository, Neurology, and Repositório da Universidade de Lisboa

Subjects
Male, diagnostic imaging [Corpus Striatum], Medizin, Somatosensory system, physiopathology [Frontotemporal Dementia], frontotemporal dementia, Cohort Studies, genetics [Progranulins], 0302 clinical medicine, Progranulins, Thalamus, C9orf72, Cerebellum, diagnostic imaging [Cerebral Cortex], pathology [Cerebellum], Medicine, pain, genetics [Frontotemporal Dementia], Cerebral Cortex, 0303 health sciences, DNA Repeat Expansion, Pain Perception, Middle Aged, Magnetic Resonance Imaging, Temporal Lobe, Psychiatry and Mental health, Cohort, diagnostic imaging [Prefrontal Cortex], Female, Frontotemporal dementia, genetics [Atrophy], Adult, medicine.medical_specialty, pathology [Corpus Striatum], Pain, Prefrontal Cortex, genetics [Perceptual Disorders], MAPT protein, human, tau Proteins, diagnostic imaging [Frontotemporal Dementia], Temporal lobe, Perceptual Disorders, 03 medical and health sciences, Atrophy, pathology [Thalamus], Internal medicine, Humans, ddc:610, genetics [C9orf72 Protein], 030304 developmental biology, diagnostic imaging [Perceptual Disorders], Aged, diagnostic imaging [Thalamus], C9orf72 Protein, business.industry, pathology [Temporal Lobe], diagnostic imaging [Atrophy], physiopathology [Atrophy], medicine.disease, diagnostic imaging [Cerebellum], pathology [Prefrontal Cortex], Corpus Striatum, physiopathology [Perceptual Disorders], genetics [tau Proteins], diagnostic imaging [Temporal Lobe], Logistic Models, Asymptomatic Diseases, Mutation, GRN protein, human, Surgery, Orbitofrontal cortex, pathology [Cerebral Cortex], Neurology (clinical), C9orf72 protein, human, business, 030217 neurology & neurosurgery
Abstract

© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. published by BMJ., Objective: Frontotemporal dementia (FTD) is typically associated with changes in behaviour, language and movement. However, recent studies have shown that patients can also develop an abnormal response to pain, either heightened or diminished. We aimed to investigate this symptom in mutation carriers within the Genetic FTD Initiative (GENFI). Methods: Abnormal responsiveness to pain was measured in 462 GENFI participants: 281 mutation carriers and 181 mutation-negative controls. Changes in responsiveness to pain were scored as absent (0), questionable or very mild (0.5), mild (1), moderate (2) or severe (3). Mutation carriers were classified into C9orf72 (104), GRN (128) and MAPT (49) groups, and into presymptomatic and symptomatic stages. An ordinal logistic regression model was used to compare groups, adjusting for age and sex. Voxel-based morphometry was performed to identify neuroanatomical correlates of abnormal pain perception. Results: Altered responsiveness to pain was present to a significantly greater extent in symptomatic C9orf72 expansion carriers than in controls: mean score 0.40 (SD 0.71) vs 0.00 (0.04), reported in 29% vs 1%. No significant differences were seen between the other symptomatic groups and controls, or any of the presymptomatic mutation carriers and controls. Neural correlates of altered pain perception in C9orf72 expansion carriers were the bilateral thalamus and striatum as well as a predominantly right-sided network of regions involving the orbitofrontal cortex, inferomedial temporal lobe and cerebellum. Conclusion: Changes in pain perception are a feature of C9orf72 expansion carriers, likely representing a disruption in somatosensory, homeostatic and semantic processing, underpinned by atrophy in a thalamo-cortico-striatal network.

Published
2020

9. A Clinical Evidence of a Correlation Between Insulin Resistance and the ALCAT Food Intolerance Test

Author

Pompei, P., Grappasonni, I., Scuri, S., Petrelli, F., Enea Traini, Sorrentino, S., and Di Fede, G.

Subjects
Adult, Male, Metabolic Syndrome, Diabetes Mellitus, Type 2, Dietary Sugars, Humans, Insulin, Female, Glucose Tolerance Test, Insulin Resistance, Middle Aged, Food Intolerance, Aged
Abstract

Insulin resistance (IR) is defined as the inability of a known quantity of exogenous or endogenous insulin to increase glucose uptake and utilization. Several mechanisms have been proposed as possible causes underlying the development of IR and the IR syndrome. IR occurs as part of a cluster of cardiovascular-metabolic abnormalities commonly referred to as "The Metabolic Syndrome." This may lead to the development of type 2 diabetes, accelerated atherosclerosis, hypertension, dysmenorrhea, hirsutism, and polycystic ovarian syndrome, depending on the genetic background of the individual developing IR. The aim of this study was to assess, in 123 female and 35 male (mean age, 42 y ± 10.3; range 19-75 y) volunteers) whether IR could be partly related to a dietary sugar intolerance and whether there could be a correlation between the ALCAT intolerance test and a mutation of the TCFTL2 gene (it promotes the trascription of the proglucagone and plays a key role in the development of the Langherans islands). Results evidenced that subjects with an intolerance to sugar, also showed a statistically significant complete or incomplete alteration of the TCFTL2 genetic test. Based upon these findings, our study demonstrated that there is a clinical correlation between the ALCAT food intolerance test and the IR. The positivity to the ALCAT test of one of the sugars tested (fructose, sugar cane, and sugar beet) indicates, in the majority of the subjects, the presence of a mutation of the gene TCF7L2 and could contribute to the prevention and treatment of the IR.

Published
2019

11. The psychoneuroimmunotherapy of human immune-mediated systemic diseases, including cancer and autoimmune diseases

Author

Di Fede G, Pellegrino G, Paolo Lissoni, Franco Rovelli, Lissoni A, Giusy Messina, Tantarelli O, and Tantarelli R

Subjects
0301 basic medicine, Biology, medicine.disease_cause, Autoimmunity, Proinflammatory cytokine, Melatonin, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Immune system, 030220 oncology & carcinogenesis, Immunology, medicine, Chronic inflammatory response, Endocrine system, Receptor, medicine.drug, Hormone
Abstract

Until few years ago, the in vivo immune responses were considered to be identical to the reactions occurring in vivo, but the recent discoveries in the Psychoneuroendocrinoimmunology (PNEI) area have demonstrated that the immune system is under a psychoneuroendocrine regulation, which represents the biochemical mediation of the influence of emotions and consciousness states on the immune system, by allowing the possibility to modulate the immune functions by acting on their neuroendocrine control rather than directly on the immune cells. The immune responses are inhibited by the opioid system, mainly by acting on mu-opioid receptors, whereas they are stimulated by the pineal-cannabinergic system functional axis. The metastatic cancer is characterized by low blood concentrations of IL-2 and IL-12, in association with abnormally high levels of TGF-beta, IL-10 and IL-6, with a following decline in TH-1 lymphocytes and an increase in T regulatory (T reg) cell count. The autoimmune diseases are characterized also by enhanced levels of proinflammatory cytokines, namely IL-17, in association with low values of TGF-beta and IL-10 as the consequence of a decline in T reg cell count. Cancer progression is associated with a progressive decline in the endocrine function of the pineal gland, which may release at least three molecules provided by antitumor activity: melatonin, 5-methoxytryptamine and pinealine. The inhibitory effects of opioids on the anticancer immunity may be abrogated by the administration of the long-acting mu-opioid antagonist naltrexone. The deficiency of pineal indole hormones, which play a fundamental anticancer activity, as well that of the main antitumor cytokines, including IL-2 and IL-12, may be simply corrected by their exogenous administration. Finally, IL-17-induced immunoinflammatory response occurring in the autoimmune diseases may be counteracted by cannabinoid agonists, which may inhibit IL-17 secretion. The pineal hormones also may contribute to inhibit the chronic inflammatory response.

Published
2017

14. A.Mutational analysis of BRCA1 in sicilian patients at risk for inherited of reference center for the biomolecular characterizaztion of neoplasm and genetic screening of hereditary tumors

Author

CALO', Valentina, AGNESE, Valentina, AUGELLO, Claudia, CAMMARERI, Patrizia, CASCIO, Sandra, GREGORIO, Valter, SISTO, Pasqua Sandra, NAPOLI, Luisa, BAZAN, Viviana, CORSALE S, BRUNO L, GARGANO G, GULLO A, LA ROCCA G, VALERIO MR, VIENI S, FRICANO S, AGNELLO G, DI FEDE G, MARTORANA A, RUSSO, Antonio, CALO V, CORSALE S, AGNESE V, AUGELLO C, BRUNO L, CAMMARERI P, CASCIO S, GARGANO G, GREGORIO V, GULLO A, LA ROCCA G, SISTO PS, VALERIO MR, NAPOLI L, VIENI S, FRICANO S, AGNELLO G, DI FEDE G, MARTORANA A, BAZAN V, and RUSSO A

Published
2005

15. TP53 mutation are not prognostic indipendent indicators in bladder cancer

Author

AGNESE, Valentina, AUGELLO, Claudia, BRUNO, Loredana, CAMMARERI, Patrizia, CASCIO, Sandra, GREGORIO, Valter, SISTO, Pasqua Sandra, SCORSALE, V. CAL, G. GARGANO, A. GULLO, G. LA ROCCA, M. R. VALERIO, DI FEDE G, MARTORANA A, BAZAN V. RUSSO A., V AGNESE, SCORSALE, C AUGELLO, BRUNO L, V CAL, P CAMMARERI, S CASCIO, G GARGANO, V GREGORIO, A GULLO, G LA ROCCA, SISTO PS, M R VALERIO, DI FEDE G, MARTORANA A, and BAZAN V RUSSO A

Published
2005

16. Mutational analysis of BRCA1 gene in sicilian patient at risk for inherited breast and/or ovarian cancer: experience of reference center the biomolecular characterization of neoplasm and genetic screening of hereditary tumors

Author

CAL V. CORSALE S, GARGANO G, GULLO G, LA ROCCA, VALERIO M. R, VIENI, Salvatore, FRICANO S, AGNELLO G, DI FEDE G, MARTORANA A, RUSSO, Antonio, AGNESE, Valentina, AUGELLO, Claudia, BRUNO, Loredana, CAMMARERI, Patrizia, CASCIO, Sandra, GREGORIO, Valter, SISTO, Pasqua Sandra, NAPOLI, Luisa, CAL V CORSALE S, AGNESE V, AUGELLO C, BRUNO L, CAMMARERI P, CASCIO S, GARGANO G, GREGORIO V, GULLO G, LA ROCCA, SISTO PS, VALERIO M R, NAPOLI L, VIENI S, FRICANO S, AGNELLO G, DI FEDE G, MARTORANA A, and RUSSO A

Published
2005

17. TP53 mutations are not prognostic indipendent indicators in bladder cancer

Author

AGNESE, Valentina, AUGELLO, Claudia, CALO', Valentina, CAMMARERI, Patrizia, CASCIO, Sandra, GREGORIO, Valter, SISTO, Pasqua Sandra, BAZAN, Viviana, CORSALE S, BRUNO L, GARGANO G, GULLO A, LA ROCCA G, VALERIO MR, DI FEDE G, MARTORANA A, RUSSO, Antonio, AGNESE V, CORSALE S, AUGELLO C, BRUNO L, CALO V, CAMMARERI P, CASCIO S, GARGANO G, GREGORIO V, GULLO A, LA ROCCA G, SISTO PS, VALERIO MR, DI FEDE G, MARTORANA A, BAZAN V, and RUSSO A

Published
2005

18. I corticosteroidi topici

Author

DI LORENZO, Gabriele, MANSUETO, Pasquale, ESPOSITO PELLITTERI, Maria, LO BIANCO, Claudia, DITTA, Vito, LETO BARONE, Maria Stefania, RINI, Giovam Battista, PACOR, ML, M, MARTINELLI, N, DI FEDE, G, DI LORENZO, G, PACOR, ML, MANSUETO, P, ESPOSITO, PELLITTERI, M, LO BIANCO C, DITTA, V, LETO BARONE, MS, MARTINELLI, N, DI FEDE, G, and RINI, GB

Published
2005

22. Cognitive Impairment and Osteoporosis in persons 50+ years old: a population-based study

Author

CAMARDA, Lawrence, BAIAMONTE V, CAMARDA, Cecilia, CAMMALLERI R, FARINELLA G, MONASTERO R, PIPIA, Carmela, SPATARO, Rossella, DI FEDE G, MAGGIO, Claudia, SFERRAZZA, Carmela, RINI, Giovam Battista, CAMARDA, Rosolino, CAMARDA LK, BAIAMONTE V, CAMARDA C, CAMMALLERI R, FARINELLA G, MONASTERO R, PIPIA C, SPATARO R, DI FEDE G, MAGGIO C, SFERRAZZA C, RINI G, and CAMARDA R

Published
2004

23. L’ehrlichiosi: una patologia emergente

Author

RIZZO, Manfredi, MANSUETO, Pasquale, DI LORENZO, Gabriele, RINI, Giovam Battista, AFFRONTI M, DI FEDE G, RIZZO M, MANSUETO P, AFFRONTI M, DI LORENZO G, DI FEDE G, and RINI G B

Published
2004

24. tion in the prion protein genme presenting with schizophrenia

Author

PUOTI, Gianfranco, Tucci C, Carlomagno S, Capuano G, Quarantelli M, Di Fede G, Giaccone G, Tagliavini F, Cotrufo R., Puoti, Gianfranco, Tucci, C, Carlomagno, S, Capuano, G, Quarantelli, M, Di Fede, G, Giaccone, G, Tagliavini, F, and Cotrufo, R.

Published
2004

26. Weekly Paclitaxel (T) and pegylated liposomal Doxorubicin (PLD) as first line treatment in metastatic breast cancer (MBC) patients.VII CONGRESSO NAZIONALE G.O.I.M. ROMA 23-25 Giugno 2004

Author

FULFARO F, CICERO G, RINALDI G, ACCARDO A, RUSSO, Antonio, DI FEDE G, VALERIO, Maria Rosaria, BADALAMENTI, Giuseppe, ARCARA, Carmelo Carlo, INTRIVICI, Chiara, CROSTA, Adele, SCIBILIA, Carla, GEBBIA, Nicolo', FULFARO F, VALERIO MR, BADALAMENTI G, ARCARA C, CICERO G, RINALDI G, ACCARDO A, INTRIVICI C, CROSTA A, SCIBILIA C, RUSSO A, DI FEDE G, and GEBBIA N

Published
2004

28. Hereditary and sporadic beta-amyloidoses

Author

Fabrizio Tagliavini, Di Fede G, and Giorgio Giaccone

Subjects
Pathology, medicine.medical_specialty, biology, Amyloid, business.industry, Amyloidosis, Disease, medicine.disease, Presenilin, medicine, Amyloid precursor protein, biology.protein, Dementia, Humans, Cerebral amyloid angiopathy, business, Stroke
Abstract

Cerebral amyloidoses are chronic, progressive neurodegenerative diseases that are caused by the aggregation and deposition of misfolded proteins in the central nervous system, and lead to cognitive deficits, stroke, and focal neurological dysfunction including cerebellar and extrapyramidal signs. Among them, beta-amyloidoses are a heterogenous set of conditions characterised by the deposition of beta-amyloid protein in brain parenchyma and/or vessel walls that lead to the development of two main clinico-pathological entities: Alzheimer's disease and cerebral amyloid angiopathy, which may be sporadic or familial, and may also co-exist in the same patient. The aim of this review is to describe the most important differences in the pathways leading to parenchymal and cerebrovascular beta-amyloidoses, and the main clinical, neuropathological and biochemical characteristics of the two conditions. It also discusses the phenotypes associated with a series of familial and sporadic beta-amyloidoses in more detail in order to highlight the clinical and neuropathological features that may help to distinguish the different forms of disease.

Published
2013

33. Advances in leishmaniasis immunopathogenesis

Author

Pasquale Mansueto, Vitale, G., Seidita, A., Guarneri, F. P., Pepe, I., Rinollo, C., Di Rosa, S., Rini, G., Cillari, E., Di Fede, G., Mansueto, P, Vitale, G, Seidita, A, Guarneri, FP, Pepe, I, Rinollo, C, Di Rosa, S, Rini, GB, Cillari, E, and Di Fede, G.

Subjects
Cutaneous leishmaniasis, visceral leishmaniasis, TH1/TH2 paradigm, citokines, chemokines, apoptosis

34. Statins and osteoporosis: Myth or reality?

Author

Manfredi RIZZO, Di Fede, G., Mansueto, P., Castello, F., Carmina, E., Rini, G. B., Rizzo, M., Di Fede, G., Mansueto, P., Castello, F., Carmina, E., and Rini, G.

Subjects
Settore MED/09 - Medicina Interna, Statin, osteoporosi

36. The malnutrition in the elderly: A clinical approach

Author

Pandolfo, M. C., Rizzo, M., Carmina, E., Castello, F., Mansueto, P., Renda, G., Avila, D., Salvatore Bucchieri, Cannone, V., Sferrazza, C., Di Fede, G., Rini, G. B., PANDOLFO, MC, RIZZO, M, CARMINA, E, CASTELLO, F, MANSUETO, P, RENDA, G, AVILA, D, BUCCHIERI, S, CANNONE, V, SFERRAZZA, C, DI FEDE, G, and RINI, GB

Subjects
Settore MED/09 - Medicina Interna, malnutrition, elderly

37. Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene

Author

Vladimiro Pietrini, Puoti, G., Limido, L., Rossi, G., Di Fede, G., Giaccone, G., Mangieri, M., Tedeschi, F., Bondavalli, A., Mancia, D., Bugiani, O., Tagliavini, F., Pietrini, V, Puoti, Gianfranco, Limido, L, Rossi, G, DI FEDE, G, Giaccone, G, Mangieri, M, Tedeschi, F, Bondavalli, A, Mancia, D, Bugiani, O, and Tagliavini, F.

Subjects
Brain Chemistry, Male, Amyloid, Heterozygote, Tyrosine 3-Monooxygenase, Prions, Homozygote, Immunoblotting, Brain, Electroencephalography, tau Proteins, Middle Aged, Immunohistochemistry, Polymerase Chain Reaction, Creutzfeldt-Jakob Syndrome, Prion Proteins, 14-3-3 Proteins, Endopeptidases, Mutation, Humans, Neurology (clinical), Protein Precursors
Abstract

—The authors investigated two unrelated patients with Creutzfeldt-Jakob disease (CJD) with clinical features of sporadic CJD (sCJD) carrying one extra octapeptide repeat in the prion protein (PrP) gene (PRNP). A synaptic type PrP distribution throughout the cerebral gray matter and plaque-like PrP deposits in the subcortical gray structures were detected immunocytochemically. The different patterns of PrP deposition were associated with distinct types of proteaseresistant PrP, similar to type 1 and type 2 of sCJD. The features suggest that this insertion is a pathogenic mutation.

38. Osteodystrophy in chronic liver diseases

Author

Mansueto, P., Aurelio Seidita, D Alcamo, A., Patti, A. M., Adragna, F., Pepe, I., Rini, G., Di Fede, G., Mansueto, P., Seidita, A., D'Alcamo, A., Patti, A., Adragna, F., Pepe, I., Rini, G., and DI FEDE, G.

Subjects
Osteodistrophy, chronic liver diseases, Settore MED/09 - Medicina Interna
Abstract

Osteoporosis and osteomalacy are, to date, among the most common metabolic disease in the world. Recently, association between metabolic bone diseases and chronic liver diseases has been increasingly reported, inducing many authors to create a new nosographic entity known as "hepatic osteodystrophy". The importance of such a condition is, moreover, further increased by morbidity of these two diseases, which greatly reduce patients quality of life because of frequent fractures, especially vertebral and femoral neck ones. For this, early identification of high-risk patients should be routinely performed by measuring Bone Mass Density. The explanation for the association between bone diseases and chronic liver disease is still uncertain, and involves many factors: from hypogonadism to use of corticosteroid drugs, from genetic factors to interferon therapy. To date, few studies have been conducted, and all with a small number of patients, in order to establish definitive conclusions about the possible treatment, but some evidences are beginning to emerge about the safety and efficacy of bisphosphonates.

49. An update on rickettsiosis

Author

Manfredi RIZZO, Mansueto, P., Affronti, M., Sferrazza, C., Bucchieri, S., Napoli, N., Cusumano, G., Cannone, V., Catello, F., Rini, G. B., and Di Fede, G.

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