CARMELA ROMANO

Dottoressa di ricerca

ciclo: XXXVI



Titolo della tesi: Riluzole treatment in two families with Spinocerebellar Ataxia type 7: A long-term follow-up.

Background: Spinocerebellar Ataxias (SCAs) is an eterogeneous group of inherited autosomal dominant progressive ataxias. Currently no curative treatment exist for SCAs. Riluzole has demonstrated promising results as symptomatic treatment in different types of cerebellar ataxia. However, the effectivness in individual subtypes of disease is still unclear and under debate. The aim of our pilot study was to test riluzole in two families with spinocerebellar ataxia type 7 (SCA7). Methods: The study cohort included five patients of Peruvian origin belonging to the same family recruited at the Robert Hollman Foundation (RHF, Italy), and two American sisters recruited at the Ophthalmological Department of Tampa (USA). All patients were administered Riluzole 100 mg (50 mg twice) daily based on a compassionate use program in a period ranging from three to five years. We collected neurological data, through the Scale for the Assessment and Rating of Ataxia (SARA), and ophthalmological data, through Visual acuity (VA) with logarithmic Snellen chart (logMAR notation used); Vistech electronic optotype, Ishihara pseudoisocromatic colour plates and colour vision test Roth 28, computerized threshold 30° visual field testing, full-field ERG, multi-focal ERG, visual evoked potential by flash and pattern-reversal stimuli, ocular motility and fixation, macular optical coherence tomography (OCT) and fundus photography, before and after Riluzole treatment. Electrocardiogram and laboratory profile for drug safety were performed every three months. Results: Riluzole treatment was started at a mean age of 36.4 years (range 11.5-68) and lasted for a mean of 4.8 years (range 3.5-9). It showed no effect on visual function in two patients with an advanced retinal damage (PII-1 and PII-3). Improvement occurred in four patients (PI-1, PII-2, S1 and S2). In these four cases a stability in visual function was observed up to 5 years after the start of the treatment. One patient (PII-2) had an overall stabilization of visual deterioration without neurological impairment and he was the only one treated before the onset of ataxia. Two patients (PII-1 and PII-3) showed a less steep deterioration of cerebellar ataxia after treatment compared to pre-treatment, during the first 2,5 years of therapy. PI-1 showed soon after therapy an improvement of the SARA score, as well as an overall stability lasting 3,5 years and followed by ataxia worsening. It shows that PII-2 had an overall stabilization of visual deterioration without neurological impairment (no ataxia occurred until the last visit after 3,5 years of follow-up). He was the only one treated before ataxia onset, and, though he had the same triplet number as PIII-1, his disease course was apparently impacted by the start of the drug. S1 and S2 showed an improvement of SARA scores soon after therapy, and an overall stability lasting respectively 5 and 3 years. No adverse event was registered during the observation period demonstrating the substantial safety of the drug. Discussion: This pilot study suggest a possible beneficial and action of Riluzole in SCA7 and supply a detailed description of the ophthalmologic profile of these patients. A randomized, controlled trial with a delayed-start study design (NCT03660917) is ongoing to confirm a symptomatic effect of riluzole in this form of cerebellar ataxia, as well as to support the possibility that this drug may represent a possible disease-modifying approach.

Produzione scientifica

11573/1714845 - 2024 - Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease
Romano, Carmela; Morena, Emanuele; Petrucci, Simona; Diamant, Selene; Marconi, Martina; Travaglini, Lorena; Zanni, Ginevra; Piane, Maria; Salvetti, Marco; Romano, Silvia; Ristori, Giovanni - 01i Case report
rivista: FRONTIERS IN NEUROLOGY (Lausanne: Frontiers Research Foundation, 2010-) pp. - - issn: 1664-2295 - wos: WOS:001195297300001 (0) - scopus: 2-s2.0-85189135085 (0)

11573/1680147 - 2023 - Peripheral Biomarkers in Manifest and Premanifest Huntington’s Disease
Morena, Emanuele; Romano, Carmela; Marconi, Martina; Diamant, Selene; Buscarinu, Maria Chiara; Bellucci, Gianmarco; Romano, Silvia; Scarabino, Daniela; Salvetti, Marco; Ristori, Giovanni - 01g Articolo di rassegna (Review)
rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. 6051- - issn: 1422-0067 - wos: WOS:000970158400001 (6) - scopus: 2-s2.0-85152353047 (6)

11573/1646132 - 2022 - Late-Onset MS: Disease Course and Safety-Efficacy of DMTS
Buscarinu, M. C.; Renie, R.; Morena, E.; Romano, C.; Bellucci, G.; Marrone, A.; Bigi, R.; Salvetti, M.; Ristori, G. - 01a Articolo in rivista
rivista: FRONTIERS IN NEUROLOGY (Lausanne: Frontiers Research Foundation, 2010-) pp. 829331- - issn: 1664-2295 - wos: WOS:000780469800001 (21) - scopus: 2-s2.0-85127372856 (24)

11573/1672936 - 2022 - CADASIL or MS? Consider “Red Flags” but Avoid a Misdiagnosis: Case Series of a Concomitant Diagnosis
Morena, Emanuele; Lucchini, Matteo; Romano, Carmela; Petrucci, Simona; Tartaglia, Matteo; Morosetti, Roberta; Conte, Antonella; Buscarinu, Maria Chiara; Romano, Silvia; Salvetti, Marco; Mirabella, Massimiliano; Ristori, Giovanni - 01i Case report
rivista: ARCHIVES OF CLINICAL AND MEDICAL CASE REPORTS (Houston TX: Fortune Journals) pp. - - issn: 2575-9655 - wos: (0) - scopus: (0)

11573/1643772 - 2022 - A clinical and epidemiological prevalence study on Friedreich’s Ataxia in Latium, Italy
Romano, Silvia; Bacigalupo, Ilaria; Marcotulli, C.; Cioffi, Ettore; Silvio Bertini, Enrico; Vasco, Gessica; Perna, Alessia; Petrucci, Antonio; Massa, Roberto; Frezza, Erica; Romano, Carmela; Salvetti, Marco; Ristori, Giovanni; Silvestri, Gabriella; Vanacore, Nicola; Casali, C. - 01a Articolo in rivista
rivista: NEUROEPIDEMIOLOGY (S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. - - issn: 0251-5350 - wos: WOS:000889072800009 (0) - scopus: 2-s2.0-85135597126 (0)

11573/1646140 - 2022 - Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington’s Disease: A Pilot Study
Romano, Silvia; Romano, Carmela; Peconi, Martina; Fiore, Alessia; Bellucci, Gianmarco; Morena, Emanuele; Troili, Fernanda; Cipollini, Virginia; Annibali, Viviana; Giglio, Simona; Mechelli, Rosella; Ferraldeschi, Michela; Veneziano, Liana; Mantuano, Elide; Sani, Gabriele; Vecchione, Andrea; Umeton, Renato; Giubilei, Franco; Salvetti, Marco; Corbo, Rosa Maria; Scarabino, Daniela; Ristori, Giovanni - 01a Articolo in rivista
rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel (Matthaeustrasse 11) : Molecular Diversity Preservation International MDPI) pp. 12440- - issn: 1661-6596 - wos: WOS:000873041100001 (1) - scopus: 2-s2.0-85140829236 (2)

11573/1693891 - 2022 - Circulating U13 small nucleolar RNA as a candidate biomarker for Huntington's disease: A Pilot Study
Romano, Silvia; Romano, Carmela; Peconi, Martina; Fiore, Alessia; Bellucci, Gianmarco; Morena, Emanuele; Troili, Fernanda; Cipollini, Virginia; Annibali, Viviana; Giglio, Simona; Mechelli, Rosella; Ferraldeschi, Michela; Veneziano, Liana; Mantuano, Elide; Sani, Gabriele; Vecchione, Andrea; Umeton, Renato; Giubilei, Franco; Salvetti, Marco; Corbo, Rosa Maria; Scarabino, Daniela; Ristori, Giovanni - 01a Articolo in rivista
rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. - - issn: 1422-0067 - wos: (0) - scopus: (0)

11573/1645980 - 2022 - Multiple sclerosis genetic and non-genetic factors interact through the transient transcriptome
Umeton, R.; Bellucci, G.; Bigi, R.; Romano, S.; Buscarinu, M. C.; Renie, R.; Rinaldi, V.; Pizzolato Umeton, R.; Morena, E.; Romano, C.; Mechelli, R.; Salvetti, M.; Ristori, G. - 01a Articolo in rivista
rivista: SCIENTIFIC REPORTS (London: Springer Nature London: Nature Publishing Group) pp. 7536- - issn: 2045-2322 - wos: WOS:000792845300065 (5) - scopus: 2-s2.0-85129540836 (5)

11573/1560921 - 2021 - A case of double standard. Sex differences in multiple sclerosis risk factors
Angeloni, B.; Bigi, R.; Bellucci, G.; Mechelli, R.; Ballerini, C.; Romano, C.; Morena, E.; Pellicciari, G.; Renie, R.; Rinaldi, V.; Buscarinu, M. C.; Romano, S.; Ristori, G.; Salvetti, M. - 01g Articolo di rassegna (Review)
rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel (Matthaeustrasse 11) : Molecular Diversity Preservation International MDPI) pp. 1-11 - issn: 1661-6596 - wos: WOS:000638663500001 (13) - scopus: 2-s2.0-85103515267 (14)

11573/1616249 - 2021 - Multiple Sclerosis and SARS-CoV-2: Has the Interplay Started?
Bellucci, G.; Rinaldi, V.; Buscarinu, M. C.; Renie, R.; Bigi, R.; Pellicciari, G.; Morena, E.; Romano, C.; Marrone, A.; Mechelli, R.; Salvetti, M.; Ristori, G. - 01a Articolo in rivista
rivista: FRONTIERS IN IMMUNOLOGY (Lausanne : Frontiers Research Foundation, 2010-) pp. 755333- - issn: 1664-3224 - wos: WOS:000726179400001 (29) - scopus: 2-s2.0-85116922341 (32)

11573/1566203 - 2021 - Intestinal Permeability and Circulating CD161+CCR6+CD8+T Cells in Patients With Relapsing–Remitting Multiple Sclerosis Treated With Dimethylfumarate
Buscarinu, Maria C.; Gargano, Francesca; Lionetto, Luana; Capi, Matilde; Morena, Emanuele; Fornasiero, Arianna; Reniè, Roberta; Landi, Anna C.; Pellicciari, Giulia; Romano, Carmela; Mechelli, Rosella; Romano, Silvia; Borsellino, Giovanna; Battistini, Luca; Simmaco, Maurizio; Fagnani, Corrado; Salvetti, Marco; Ristori, Giovanni - 01a Articolo in rivista
rivista: FRONTIERS IN NEUROLOGY (Lausanne: Frontiers Research Foundation, 2010-) pp. - - issn: 1664-2295 - wos: WOS:000728830600001 (5) - scopus: 2-s2.0-85114630306 (4)

11573/1549835 - 2021 - Circulating hsa-miR-323b-3p in Huntington's Disease. A Pilot Study
Ferraldeschi, M.; Romano, S.; Giglio, S.; Romano, C.; Morena, E.; Mechelli, R.; Annibali, V.; Ubaldi, M.; Buscarinu, M. C.; Umeton, R.; Sani, G.; Vecchione, A.; Salvetti, M.; Ristori, G. - 01a Articolo in rivista
rivista: FRONTIERS IN NEUROLOGY (Lausanne: Frontiers Research Foundation, 2010-) pp. 1-7 - issn: 1664-2295 - wos: WOS:000651757800001 (9) - scopus: 2-s2.0-85105979144 (10)

11573/1560913 - 2021 - Mait cells and microbiota in multiple sclerosis and other autoimmune diseases
Mechelli, R.; Romano, S.; Romano, C.; Morena, E.; Buscarinu, M. C.; Bigi, R.; Bellucci, G.; Renie, R.; Pellicciari, G.; Salvetti, M.; Ristori, G. - 01g Articolo di rassegna (Review)
rivista: MICROORGANISMS (Basel : MDPI) pp. 1-13 - issn: 2076-2607 - wos: WOS:000666799700001 (13) - scopus: 2-s2.0-85106275813 (11)

11573/1358336 - 2020 - Disentangling the molecular mechanisms of multiple sclerosis: the contribution of twin studies
Buscarinu, M. C.; Fornasiero, A.; Ferraldeschi, M.; Romano, S.; Renie, R.; Morena, E.; Romano, C.; Pellicciari, G.; Landi, A. C.; Fagnani, C.; Salvetti, M.; Ristori, G. - 01g Articolo di rassegna (Review)
rivista: NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010) pp. 194-198 - issn: 0149-7634 - wos: WOS:000517663900016 (4) - scopus: 2-s2.0-85078312434 (6)

11573/1477823 - 2020 - Corrigendum: Perivascular Unit: This Must Be the Place. The Anatomical Crossroad Between the Immune, Vascular and Nervous System (Frontiers in Neuroanatomy, (2020), 14, 10.3389/fnana.2020.00017)
Troili, F.; Cipollini, V.; Moci, M.; Morena, E.; Palotai, M.; Rinaldi, V.; Romano, C.; Ristori, G.; Giubilei, F.; Salvetti, M.; Orzi, F.; Guttmann, C. R. G.; Cavallari, M. - 01b Commento, Erratum, Replica e simili
rivista: FRONTIERS IN NEUROANATOMY (Lausanne : Frontiers Research Foundation, 2007-) pp. 51- - issn: 1662-5129 - wos: WOS:000576084100001 (0) - scopus: 2-s2.0-85091770391 (7)

11573/1574278 - 2020 - Perivascular unit: this must be the place. The anatomical crossroad between the immune, vascular and nervous system
Troili, F; Cipollini, V; Moci, M; Morena, E; Palotai, M; Rinaldi, V; Romano, C; Ristori, G; Giubilei, F; Salvetti, M; Orzi, F; Guttmann, Crg; Cavallari, M - 01g Articolo di rassegna (Review)
rivista: FRONTIERS IN NEUROANATOMY (Lausanne : Frontiers Research Foundation, 2007-) pp. 14-17 - issn: 1662-5129 - wos: WOS:000531196200001 (47) - scopus: 2-s2.0-85084082947 (41)

11573/1318638 - 2019 - The contribution of gut barrier changes to multiple sclerosis pathophysiology
Buscarinu, M. C.; Fornasiero, A.; Romano, S.; Ferraldeschi, M.; Mechelli, R.; Renie, R.; Morena, E.; Romano, C.; Pellicciari, G.; Landi, A. C.; Salvetti, M.; Ristori, G. - 01g Articolo di rassegna (Review)
rivista: FRONTIERS IN IMMUNOLOGY (Lausanne : Frontiers Research Foundation, 2010-) pp. 1916- - issn: 1664-3224 - wos: WOS:000482914000001 (37) - scopus: 2-s2.0-85072047265 (39)

11573/1031434 - 2018 - Intestinal Permeabiliy in Relapsing-Remitting Multiple Sclerosis
Buscarinu, M. C.; Romano, S.; Mechelli, R.; Pizzolato Umeton, R.; Ferraldeschi, M.; Fornasiero, A.; Reniã, R.; Cerasoli, B.; Morena, Emanuele; Romano, Carmela; Loizzo, N. D.; Umeton, R.; Salvetti, M.; Ristori, G. - 01a Articolo in rivista
rivista: NEUROTHERAPEUTICS (Orlando, FL: Elsevier, c2007-) pp. 1-7 - issn: 1933-7213 - wos: WOS:000424080900007 (52) - scopus: 2-s2.0-85033374968 (55)

11573/1136908 - 2018 - Chapter 3 - Bacille Calmette-Guérin (BCG) Vaccine in Neuroinflammation
Romano, Silvia; Ferraldeschi, Michela; Buscarinu, Maria Chiara; Fornasiero, Arianna; Renie', Roberta; Morena, Emanuele; Romano, Carmela; Mechell, Rosella; Vanacore, Nicola; Salvetti, Marco; Ristori, Giovanni - 02b Commentario
libro: The Value of BCG and TNF in Autoimmunity - (9780128146033)

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