Dottoressa di ricerca

ciclo: XXXV

Titolo della tesi: Pediatric Movement Disorders: expansion of clinical and diagnostic spectra of neurometabolic and neurogenetic conditions, use of new diagnostic tools and new pharmacologic therapies

Pediatric movement disorders (MDs) include a large group of conditions divided into hyperkinetic and hypokinetic disorders, such as dystonia, chorea, parkinsonism, tremor, tics, myoclonus, and ataxia, often presenting with complex clinical picture and associated to neurological and non-neurological features. The characterization of the clinical phenotype and the identification of the underlying etiology is often difficult, given the wide differential diagnosis and the increasing number of possible genetic causes. The introduction of Next Generation Sequencing (NGS) technique greatly advanced our understanding of underling genetic mutations and etiological molecular pathways, and biochemical “omics” approaches expanded the spectrum of Inborn Error of Metabolism (IEM) conditions. Recent findings show that multiple genes involved in hyperkinetic and hypokinetic movement disorders often share the same biological pathways, and many functional relationships between apparently unrelated genes have been discovered. These findings can lead to the development of new classification systems of genetic disorders based on shared molecular pathways, and can contribute to the identification of novel targets for therapeutic intervention. In my project, which was conducted predominantly in the Neurometabolic and Movement Disorder Unite of Sant Joan de Déu Hospital of Barcelona, I decided to deeply investigate the clinical characterization of some categories of pediatric MD, such as hypokinetic patterns falling in the definition of pediatric parkinsonism, abnormal movement patterns of the neonatal population affected by inherited metabolic disorders (IMD) and a rare genetic form of early-onset ataxia. Moreover, in collaboration with other research institutes, we experimented new potential diagnostic tools by the use of volumetric analysis of brain magnetic resonance images in two different populations (neurotransmitter disorders and some subgroups of neonatal IMDs). Finally, in collaboration with the Synaptic metabolism laboratory, we proposed a new potential treatment for a subcategory of neurometabolic disorder with pediatric parkinsonism phenotype.

Produzione scientifica

11573/1670737 - 2022 - Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders
Alfonsi, Chiara - 01a Articolo in rivista
rivista: THE NEURORADIOLOGY JOURNAL (Bologna : Centauro) pp. - - issn: 1971-4009 - wos: WOS:000805893700001 (2) - scopus: 2-s2.0-85131600540 (2)

11573/1485450 - 2021 - Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
Kuseyri Hübschmann, Oya; Mohr, Alexander; Friedman, Jennifer; Manti, Filippo; Horvath, Gabriella; Cortès-Saladelafont, Elisenda; Mercimek-Andrews, Saadet; Yildiz, Yilmaz; Pons, Roser; Kulhánek, Jan; Oppebøen, Mari; Koht, Jeanette Aimee; Podzamczer-Valls, Inés; Domingo-Jimenez, Rosario; Ibáñez, Salvador; Alcoverro-Fortuny, Oscar; Gómez-Alemany, Teresa; De Castro, Pedro; Alfonsi, Chiara; Zafeiriou, Dimitrios I; López-Laso, Eduardo; Guder, Philipp; Santer, René; Honzík, Tomáš; Hoffmann, Georg F; Garbade, Sven F; Sivri, H Serap; Leuzzi, Vincenzo; Jeltsch, Kathrin; García-Cazorla, Angeles; Opladen, Thomas; Harting, Inga - 01a Articolo in rivista
rivista: JOURNAL OF INHERITED METABOLIC DISEASE (Kluwer Academic Publishers:Journals Department, PO Box 322, 3300 AH Dordrecht Netherlands:011 31 78 6576050, EMAIL:,, INTERNET:, Fax: 011 31 78 6576254) pp. - - issn: 0141-8955 - wos: WOS:000614533500001 (14) - scopus: 2-s2.0-85099973499 (13)

11573/1285102 - 2019 - Functional analysis of gut microbiota and immunoinflammation in children with autism spectrum disorders
Carissimi, Claudia; Laudadio, Ilaria; Francesca, Palone; Fulci, Valerio; Vincenzo, Cesi; Cardona, Francesco; Alfonsi, Chiara; Cucchiara, Salvatore; Isoldi, Sara; Stronati, Laura - 01a Articolo in rivista
rivista: DIGESTIVE AND LIVER DISEASE (-Roma: Editrice Gastroenterologica Italiana; Milano: Elsevier -Roma: Editrice Gastroenterologica Italiana. -Ospedaletto Pisa: Pacini) pp. 1366-1374 - issn: 1590-8658 - wos: WOS:000487594200003 (36) - scopus: 2-s2.0-85068930192 (39)

11573/1298571 - 2019 - Application of the scale for assesment of feeding interaction (SVIA) to children with autism spectrum disorder
Catino, Elena; Perroni, Giorgia; Di Trani, Michela; Alfonsi, Chiara; Chiarotti, Flavia; Cardona, Francesco Carmelo Giovanni - 01a Articolo in rivista
rivista: FRONTIERS IN PSYCHIATRY (Lausanne, Switzerland: Frontiers Media S.A. All Rights Reserved) pp. 1-7 - issn: 1664-0640 - wos: WOS:000476869900001 (4) - scopus: 2-s2.0-85074763132 (4)

11573/1359160 - 2019 - Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis
Mastrangelo, M.; Alfonsi, C.; Screpanti, I.; Masuelli, L.; Tavazzi, B.; Mei, D.; Giannotti, F.; Guerrini, R.; Leuzzi, V. - 01a Articolo in rivista
rivista: MOLECULAR GENETICS AND METABOLISM REPORTS (Amsterdam : Elsevier) pp. 100502- - issn: 2214-4269 - wos: WOS:000500718300039 (3) - scopus: 2-s2.0-85070904350 (3)

11573/1253411 - 2018 - Il sito archeologico di Ponte del Toro
Jaia, A.; Virili, C.; Pantano, F.; Alfonsi, C. - 01a Articolo in rivista
rivista: MEMORIA STORICA (Thyrus Srl:via Della Rinascita 12, 05031 Arrone TR Italy:011 39 0744 389496) pp. 13-34 - issn: 1125-3886 - wos: (0) - scopus: (0)

11573/1670747 - 2014 - Longitudinal assessment of perceptual-motor abilities in pre-school preterm children
Brogna, C.; De Rose, P.; Sivo, S.; Lagana, V.; Graziano, A.; Alfonsi, C.; Albamonte, E.; Gallini, F.; Serrao, F.; Romeo, D. M.; Frezza, S.; Papacci, P.; Romagnoli, C.; Mercuri, E.; Ricci, D. - 01a Articolo in rivista
rivista: EARLY HUMAN DEVELOPMENT (Elsevier Science Ireland Limited:PO Box 85, Limerick Ireland:011 353 61 709600, 011 353 61 61944, EMAIL:, INTERNET:, Fax: 011 353 61 709114) pp. 645-647 - issn: 0378-3782 - wos: WOS:000343379300016 (5) - scopus: 2-s2.0-84922279624 (5)

11573/1670746 - 2014 - Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy
De Sanctis, Roberto; Pane, Marika; Sivo, Serena; Ricotti, Valeria; Baranello, Giovanni; Frosini, Silvia; Mazzone, Elena Stacy; Bianco, Flaviana; Fanelli, Lavinia; Main, Marion; Corlatti, Alice; D’Amico, Adele; Colia, Giulia; Scalise, Roberta; Palermo, Concetta; Alfonsi, Chiara; Tritto, Giovanna; Romeo, Domenico M.; Graziano, Alessandra; Battini, Roberta; Morandi, Lucia; Bertini, Enrico; Muntoni, Francesco; Mercuri, Eugenio - 01a Articolo in rivista
rivista: NEUROMUSCULAR DISORDERS (Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL:,, INTERNET:,, Fax: 011 44 1865 843010) pp. - - issn: 0960-8966 - wos: (0) - scopus: (0)

11573/1670741 - 2014 - 6 minute walk test in Duchenne MD patients with different mutations: 12 month changes
Pane, Marika; Mazzone, Elena S.; Sormani, Maria Pia; Messina, Sonia; Vita, Gian Luca; Fanelli, Lavinia; Berardinelli, Angela; Torrente, Yvan; D'amico, Adele; Lanzillotta, Valentina; Viggiano, Emanuela; D'ambrosio, Paola; Cavallaro, Filippo; Frosini, Silvia; Bello, Luca; Bonfiglio, Serena; Scalise, Roberta; De Sanctis, Roberto; Rolle, Enrica; Bianco, Flaviana; Van Der Haawue, Marlene; Magri, Francesca; Palermo, Concetta; Rossi, Francesca; Donati, Maria Alice; Alfonsi, Chiara; Sacchini, Michele; Arnoldi, Maria Teresa; Baranello, Giovanni; Mongini, Tiziana; Pini, Antonella; Battini, Roberta; Pegoraro, Elena; Previtali, Stefano C.; Napolitano, Sara; Bruno, Claudio; Politano, Luisa; Comi, Giacomo P.; Bertini, Enrico; Morandi, Lucia; Gualandi, Francesca; Ferlini, Alessandra; Goemans, Nathalie; Mercuri, Eugenio - 01a Articolo in rivista
rivista: PLOS ONE (San Francisco, CA : Public Library of Science) pp. - - issn: 1932-6203 - wos: WOS:000329862500046 (73) - scopus: 2-s2.0-84897449030 (73)

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