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4 results on '"Figorilli, Michela"'

1. SMPD1 variants do not have a major role in REM sleep behavior disorder

Author

Rudakou, Uladzislau, Futhey, Naomi C., Krohn, Lynne M., Ruskey, Jennifer A., Heilbron, Karl, Cannon, Paul, Alam, Armaghan, Arnulf, Isabelle, Hu, Michele T.M., Montplaisir, Jacques Y., Gagnon, Jean-François, Desautels, Alex, Dauvilliers, Yves, Toffoli, Marco, Gigli, Gian Luigi, Valente, Mariarosaria, Högl, Birgit, Stefani, Ambra, Holzknecht, Evi, Sonka, Karel, Kemlink, David, Oertel, Wolfgang, Janzen, Annette, Plazzi, Giuseppe, Antelmi, Elena, Figorilli, Michela, Puligheddu, Monica, Mollenhauer, Brit, Trenkwalder, Claudia, Sixel-Döring, Friederike, Cochen De Cock, Valérie, Monaca, Christelle Charley, Heidbreder, Anna, Ferini-Strambi, Luigi, Dijkstre, Femke, Viaene, Mineke, Beatriz, Abril, Boeve, Bradley F., Postuma, Ronald B., Rouleau, Guy, and Gan-Or, Ziv

Abstract

Mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene were reported to be associated with Parkinson disease (PD) and dementia with Lewy bodies (DLB). The majority of patients with isolated rapid eye movement sleep behavior disorder (iRBD) develop PD or DLB later in life, suggesting that iRBD is a prodromal phase of these two conditions. In the current study we aimed to evaluate the role of SMPD1 variants in iRBD. SMPD1 and its untranslated regions were sequenced using targeted next-generation sequencing in 959 iRBD patients and 1,287 controls from European descent. Logistic regression adjusted for sex and age showed no significant associations with two common variants and iRBD (rs1050239 and rs8164). The frequency of all rare nonsynonymous SMPD1 variants (minor allele frequency p=0.09) but there was no statistically significant burden (p=0.64). Our study reports no statistically significant association of SMPD1 variants and iRBD. It is hence unlikely that SMPD1 plays a major role in iRBD.

Published
2020
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2. Efficacy and Safety of Combined Paliperidone Palmitate and Olanzapine Pamoate in Resistant Schizoaffective Disorder

Author

Figorilli, Michela, Ferri, Raffaele, Zibetti, Maurizio, Beudin, Patricia, Puligheddu, Monica, Lopiano, Leonardo, Cicolin, Alessandro, Durif, Frank, marques, ana, Fantini, Maria Livia, Boussida, Salem, Traore, Amidou, Charpier, Stéphane, Legrand, Guillaume, Andrianarisoa, Meja, Mauvieux, Joëlle, Jalenques, Isabelle, Neuro-Psycho Pharmacologie des Systèmes Dopimanégiques sous-corticaux - Clermont Auvergne (NPsy-Sydo), CHU Clermont-Ferrand-Université Clermont Auvergne (UCA), Groupe de sociologie politique et morale (GSPM), École des hautes études en sciences sociales (EHESS)-Centre National de la Recherche Scientifique (CNRS), Qualité des Produits Animaux (QuaPA), Institut National de la Recherche Agronomique (INRA), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [APHP], Biologie du développement et reproduction (BDR), École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA)-Centre National de la Recherche Scientifique (CNRS), Fondation FondaMental [Créteil], Neuro-Psycho Pharmacologie des Systèmes Dopimanégiques sous-corticaux (NPsy-Sydo), CHU Clermont-Ferrand-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Sainte-Marie, Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-CHU Clermont-Ferrand, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), and Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS)

Subjects
Paliperidone Palmitate, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, Olanzapine pamoate, Schizoaffective disorder, Pharmacology, medicine.disease, 3. Good health, 030227 psychiatry, 03 medical and health sciences, Psychiatry and Mental health, 0302 clinical medicine, Medicine, Pharmacology (medical), business, ComputingMilieux_MISCELLANEOUS, 030217 neurology & neurosurgery
Abstract

International audience

Published
2014
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4. Dopaminergic imaging and clinical predictors for phenoconversion of REM sleep behaviour disorder

Author

Karel Sonka, Thomas R Barber, Michele Terzaghi, Michal Rolinski, Fabio Pizza, Petr Dusek, Masayuki Miyamoto, Riccardo Meli, Matteo Bauckneht, Giuseppe Plazzi, Flavio Nobili, Bradley F. Boeve, Alessandra Serra, Lennon Jordan, Jiří Trnka, Raffaele Manni, Andrea Chincarini, Naoko Tachibana, Daniel R. McGowan, Val J. Lowe, Tomoyuki Miyamoto, Silvia Morbelli, Monica Puligheddu, Michela Figorilli, Elena Antelmi, David Zogala, Irene Bossert, Valérie Cochen De Cock, Toji Miyagawa, Dario Arnaldi, Delphine de Verbizier, Kevin M. Bradley, Michele T.M. Hu, Arnaldi, Dario, Chincarini, Andrea, Hu, Michele T, Sonka, Karel, Boeve, Bradley, Miyamoto, Tomoyuki, Puligheddu, Monica, De Cock, Valérie Cochen, Terzaghi, Michele, Plazzi, Giuseppe, Tachibana, Naoko, Morbelli, Silvia, Rolinski, Michal, Dusek, Petr, Lowe, Val, Miyamoto, Masayuki, Figorilli, Michela, de Verbizier, Delphine, Bossert, Irene, Antelmi, Elena, Meli, Riccardo, Barber, Thomas R, Trnka, Jiří, Miyagawa, Toji, Serra, Alessandra, Pizza, Fabio, Bauckneht, Matteo, Bradley, Kevin M, Zogala, David, McGowan, Daniel R, Jordan, Lennon, Manni, Raffaele, and Nobili, Flavio

Subjects
Male, medicine.medical_specialty, Synucleinopathies, Unified Parkinson's disease rating scale, Kaplan-Meier Estimate, REM Sleep Behavior Disorder, Logistic regression, REM sleep behavior disorder, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Aged, Retrospective Studies, Tomography, Emission-Computed, Single-Photon, Dopamine Plasma Membrane Transport Proteins, Mini–Mental State Examination, medicine.diagnostic_test, Proportional hazards model, business.industry, Parkinsonism, Hazard ratio, Putamen, Original Articles, Middle Aged, medicine.disease, Confidence interval, REM sleep behaviour disorder, ROC Curve, SPECT, Parkinson’s disease, Female, Neurology (clinical), dementia with Lewy bodies, Caudate Nucleus, business, 030217 neurology & neurosurgery, Tropanes
Abstract

This is an international multicentre study aimed at evaluating the combined value of dopaminergic neuroimaging and clinical features in predicting future phenoconversion of idiopathic REM sleep behaviour (iRBD) subjects to overt synucleinopathy. Nine centres sent 123I-FP-CIT-SPECT data of 344 iRBD patients and 256 controls for centralized analysis. 123I-FP-CIT-SPECT images were semiquantified using DaTQUANTTM, obtaining putamen and caudate specific to non-displaceable binding ratios (SBRs). The following clinical variables were also analysed: (i) Movement Disorder Society-sponsored revision of the Unified Parkinson’s Disease Rating Scale, motor section score; (ii) Mini-Mental State Examination score; (iii) constipation; and (iv) hyposmia. Kaplan-Meier survival analysis was performed to estimate conversion risk. Hazard ratios for each variable were calculated with Cox regression. A generalized logistic regression model was applied to identify the best combination of risk factors. Bayesian classifier was used to identify the baseline features predicting phenoconversion to parkinsonism or dementia. After quality check of the data, 263 iRBD patients (67.6 ± 7.3 years, 229 males) and 243 control subjects (67.2 ± 10.1 years, 110 males) were analysed. Fifty-two (20%) patients developed a synucleinopathy after average follow-up of 2 years. The best combination of risk factors was putamen dopaminergic dysfunction of the most affected hemisphere on imaging, defined as the lower value between either putamina (P

Published
2020
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