LUCA POLLINI

Dottore di ricerca

ciclo: XXXVI



Titolo della tesi: Neurophysiological and Kinematic analysis in Inherited Movement Disorders: toward a quantitative assessment of movements to improve phenotypical characterization in rare disorders.

Over the last years, next-generation sequencing analysis have significantly increased the knowledge of the movement disorders genetic landscape, revealing a great complexity in the genotype-phenotype correlations. Complexity in clinical-genetic correlations have consequences for diagnosis, treatment, and genetic counseling, and to deal with this issue, clinicians are asked to perform an accurate phenotypical characterization. Despite the advance of instrumental, biochemical, and genetic examination, the diagnosis of movement disorders still relies on clinical criteria and is based on the phenomenological evaluation (or the description and classification) of the motor phenotype. A critical issue in this process is that phenomenological evaluation is based on visual observation, and thus on the clinician’s judgement and experience. This approach has some limits, as clinical judgement is subjective and in different occasions clinicians have a low inter-rater agreement in the definition of the same motor phenotype. Furthermore, a simple visual observation is not sufficient to gather information about movement characteristics, that can be useful to monitor patients over time and that can provide insight into the underlying pathophysiological mechanisms of movement disorders. The aim of this thesis is to demonstrate as neurophysiological and kinematic analysis can provide objective and quantitative measurements, offering complementary information to the clinical examination, that can significantly improve the assessment of movement disorders. We examined through different neurophysiological and kinematic analysis the motor phenotype of individuals with Progressive Myoclonus Ataxia, Inherited Monoamine Neurotransmitter Disorders, and Neurodevelopmental disorders, obtaining information that were not appreciated on a clinical level. Clinical Neurophysiology and Kinematic analysis are valuable tools that can improve phenotypical characterization in individuals with movement disorders due to genetic causes, and this will ultimately improve their recognition, classification, and management.

Produzione scientifica

11573/1721004 - 2024 - CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report
De Riggi, Martina; De Giorgi, Agnese; Pollini, Luca; Angelini, Luca; Paparella, Giulia; Cannavacciuolo, Antonio; Birreci, Daniele; Costa, Davide; Tessa, Alessandra; Natale, Gemma; Fiorelli, Marco; Galatolo, Daniele; Santorelli, Filippo Maria; Galosi, Serena; Bologna, Matteo - 01i Case report
rivista: THE CEREBELLUM (New York: Springer London: Martin Dunitz Ltd, 2002-) pp. - - issn: 1473-4230 - wos: WOS:001314854000001 (0) - scopus: 2-s2.0-85204207101 (0)

11573/1703907 - 2024 - Fenotipo epilettico e gestione terapeutica in un paziente con deficit di succinico semialdeide deidrogenasi: evoluzione dall’ infanzia all’ età adulta
Mastrangelo, Mario; Greco, Carlo; Bove, Rossella; Ricciardi, Giacomina; Pollini, Luca; Leuzzi, Vincenzo; Pisani, Francesco - 04d Abstract in atti di convegno
congresso: Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2024 (Roma)
libro: Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2024 - ()

11573/1711079 - 2023 - GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum
Galosi, Serena; Novelli, M; Di Rocco, M; Flex, E; Messina, E; Pollini, Luca; Parrini, E; Pisani, F; Guerrini, Renzo; Leuzzi, V; Martinelli, S - 01f Lettera, Nota
rivista: MOVEMENT DISORDERS (New York, N.Y. : John Wiley & Sons) pp. 2313-2314 - issn: 1531-8257 - wos: WOS:001063564300001 (3) - scopus: 2-s2.0-85168895621 (4)

11573/1689255 - 2023 - Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient
Nardecchia, F; Bove, R; Pollini, L; Giannini, Mt; Manti, F; De Giorgi, A; Papoff, P; Martinelli, S; Leuzzi, V - 01i Case report
rivista: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. 1430-1432 - issn: 2330-1619 - wos: WOS:001032414100001 (2) - scopus: 2-s2.0-85165351494 (2)

11573/1705193 - 2023 - GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments
Novelli, Maria; Galosi, Serena; Zorzi, Giovanna; Martinelli, Simone; Capuano, Alessandro; Nardecchia, Francesca; Granata, Tiziana; Pollini, Luca; Di Rocco, Martina; Marras, Carlo Efisio; Nardocci, Nardo; Leuzzi, Vincenzo - 01g Articolo di rassegna (Review)
rivista: PARKINSONISM & RELATED DISORDERS (Elsevier Science:Molenwarf 1, 1014 AG Amsterdam The Netherlands:011 31 20 4853597, EMAIL: p.j.bishop@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 31 20 4853249) pp. - - issn: 1353-8020 - wos: WOS:001010021100001 (15) - scopus: 2-s2.0-85154532335 (14)

11573/1666778 - 2022 - Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy
Galosi, Serena; Pollini, Luca; Nardecchia, Francesca; Cellini, Elena; Guerrini, Renzo; Leuzzi, Vincenzo - 01i Case report
rivista: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. - - issn: 2330-1619 - wos: WOS:000852575400012 (4) - scopus: 2-s2.0-85137748249 (4)

11573/1666784 - 2022 - Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling
Galosi, Serena; Pollini, Luca; Novelli, Maria; Bernardi, Katerina; Di Rocco, Martina; Martinelli, Simone; Leuzzi, Vincenzo - 01a Articolo in rivista
rivista: FRONTIERS IN NEUROLOGY (Lausanne: Frontiers Research Foundation, 2010-) pp. - - issn: 1664-2295 - wos: WOS:000843322400001 (8) - scopus: 2-s2.0-85136516821 (9)

11573/1652994 - 2022 - Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders
Passaretti, Massimiliano; Pollini, Luca; Paparella, Giulia; De Biase, Alessandro; Colella, Donato; Angelini, Luca; Galosi, Serena; Manti, Filippo; Guerra, Andrea; Leuzzi, Vincenzo; Berardelli, Alfredo; Bologna, Matteo - 01a Articolo in rivista
rivista: JOURNAL OF NEURAL TRANSMISSION (Wien : Springer) pp. 1011-1021 - issn: 1435-1463 - wos: WOS:000824240600001 (1) - scopus: 2-s2.0-85134333674 (1)

11573/1615155 - 2022 - A diagnosis of progressive myoclonic ataxia guided by blood biomarkers: Expert commentary
Pollini, L.; Tijssen, M. A. J. - 01m Editorial/Introduzione in rivista
rivista: PARKINSONISM & RELATED DISORDERS (Elsevier Science:Molenwarf 1, 1014 AG Amsterdam The Netherlands:011 31 20 4853597, EMAIL: p.j.bishop@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 31 20 4853249) pp. 127-128 - issn: 1353-8020 - wos: WOS:000783076000002 (0) - scopus: 2-s2.0-85121100800 (0)

11573/1471056 - 2020 - Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
Marti-Sanchez, L.; Baide-Mairena, H.; Marce-Grau, A.; Pons, R.; Skouma, A.; Lopez-Laso, E.; Sigatullina, M.; Rizzo, C.; Semeraro, M.; Martinelli, D.; Carrozzo, R.; Dionisi-Vici, C.; Gonzalez-Gutierrez-Solana, L.; Correa-Vela, M.; Ortigoza-Escobar, J. D.; Sanchez-Montanez, A.; Vazquez, E.; Delgado, I.; Aguilera-Albesa, S.; Yoldi, M. E.; Ribes, A.; Tort, F.; Pollini, L.; Galosi, S.; Leuzzi, V.; Tolve, M.; Perez-Gay, L.; Aldamiz-Echevarria, L.; Del Toro, M.; Arranz, A.; Roelens, F.; Urreizti, R.; Artuch, R.; Macaya, A.; Perez-Duenas, B. - 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: frontoffice@wkap.nl, kluweronline@wkap.nl, INTERNET: http://www.kluwerlaw.com, Fax: 011 31 78 6576254) pp. - - issn: 0141-8955 - wos: WOS:000563083900001 (27) - scopus: 2-s2.0-85089444872 (22)

11573/1386553 - 2020 - Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male
Pollini, L.; Tolve, M.; Nardecchia, F.; Galosi, S.; Carducci, C.; Di Carlo, E.; Carducci, C.; Leuzzi, V. - 01a Articolo in rivista
rivista: MOLECULAR GENETICS AND METABOLISM REPORTS (Amsterdam : Elsevier) pp. 100560- - issn: 2214-4269 - wos: WOS:000514810400017 (2) - scopus: 2-s2.0-85077397074 (2)

11573/1434595 - 2020 - KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes
Pollini, Luca; Galosi, Serena; Tolve, Manuela; Caputi, Caterina; Carducci, Carla; Angeloni, Antonio; Leuzzi, Vincenzo - 01g Articolo di rassegna (Review)
rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. 5802- - issn: 1422-0067 - wos: WOS:000565055500001 (17) - scopus: 2-s2.0-85089568443 (17)

11573/1386557 - 2019 - Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant
Pollini, L.; Galosi, S.; Nardecchia, F.; Musacchia, F.; Castello, R.; Nigro, V.; Leuzzi, V. - 01a Articolo in rivista
rivista: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. 118-119 - issn: 2330-1619 - wos: WOS:000498133600001 (5) - scopus: 2-s2.0-85075480182 (6)

11573/1498087 - 2018 - Expanding the phenotype of the rare neuronal ceroid lipofuscinoses (ncl) 10
Di Maggio, C; Bernardini, L; Masuelli, L; Aiello, Chiara; Giorgi, D; Pollini, L; Torres, B; Bertini Enrico, Silvio; Leuzzi, V - 04f Poster
congresso: SSIEM 2018: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Athens, Greece, 4-7 September 2018 (Athens, Greece)
libro: Volume 41, Issue 1 Supplement, September 2018 SSIEM 2018: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Athens, Greece, 4-7 September 2018 - ()

11573/957792 - 2017 - Attention in Parkinson’s disease with fatigue: evidence from the attention network test
Pauletti, Caterina; Mannarelli, Daniela; Locuratolo, Nicoletta; Pollini, Luca; Curra', Antonio; Marinelli, Lucio; Rinalduzzi, Steno; Fattapposta, Francesco - 01a Articolo in rivista
rivista: JOURNAL OF NEURAL TRANSMISSION (Springer-Verlag New York Incorporated:175 Fifth Avenue:New York, NY 10010:(212)460-1500, EMAIL: orders@springer-ny.com, INTERNET: http://www.springer-ny.com, Fax: (212)533-3503) pp. 335-345 - issn: 0300-9564 - wos: WOS:000394433100005 (28) - scopus: 2-s2.0-84992378359 (32)

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