Search

Your search keyword '"Trezzi, Ilaria"' showing total 15 results
Start Over Author "Trezzi, Ilaria"
15 results on '"Trezzi, Ilaria"'

1. Dysautonomia in Parkinson’s Disease: Impact of Glucocerebrosidase Gene Mutations on Cardiovascular Autonomic Control

Author

Carandina, Angelica, primary, Lazzeri, Giulia, additional, Rodrigues, Gabriel Dias, additional, Franco, Giulia, additional, Monfrini, Edoardo, additional, Arienti, Federica, additional, Frattini, Emanuele, additional, Trezzi, Ilaria, additional, da Silva Soares, Pedro Paulo, additional, Bellocchi, Chiara, additional, Furlan, Ludovico, additional, Montano, Nicola, additional, Di Fonzo, Alessio, additional, and Tobaldini, Eleonora, additional

Published
2022
Full Text
View/download PDF

3. GBA‐Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort.

Author

Petrucci, Simona, Ginevrino, Monia, Trezzi, Ilaria, Monfrini, Edoardo, Ricciardi, Lucia, Albanese, Alberto, Avenali, Micol, Barone, Paolo, Bentivoglio, Anna Rita, Bonifati, Vincenzo, Bove, Francesco, Bonanni, Laura, Brusa, Livia, Cereda, Cristina, Cossu, Giovanni, Criscuolo, Chiara, Dati, Giovanna, De Rosa, Anna, Eleopra, Roberto, and Fabbrini, Giovanni

Abstract

Background: Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD). The impact of different variants on the PD clinical spectrum is still unclear. Objectives: We determined the frequency of GBA‐related PD in Italy and correlated GBA variants with motor and nonmotor features and their occurrence over time. Methods: Sanger sequencing of the whole GBA gene was performed. Variants were classified as mild, severe, complex, and risk. β‐glucocerebrosidase activity was measured. The Kaplan‐Meier method and Cox proportional hazard regression models were performed. Results: Among 874 patients with PD, 36 variants were detected in 14.3%, including 20.4% early onset. Patients with GBA‐PD had earlier and more frequent occurrence of several nonmotor symptoms. Patients with severe and complex GBA‐PD had the highest burden of symptoms and a higher risk of hallucinations and cognitive impairment. Complex GBA‐PD had the lowest β‐glucocerebrosidase activity. Conclusions: GBA‐PD is highly prevalent in Italy. Different types of mutations underlie distinct phenotypic profiles. © 2020 International Parkinson and Movement Disorder Society [ABSTRACT FROM AUTHOR]

Published
2020
Full Text
View/download PDF

4. The Length of SNCA Rep1 Microsatellite May Influence Cognitive Evolution in Parkinson’s Disease

Author

Corrado, Lucia, primary, De Marchi, Fabiola, additional, Tunesi, Sara, additional, Oggioni, Gaia Donata, additional, Carecchio, Miryam, additional, Magistrelli, Luca, additional, Tesei, Silvana, additional, Riboldazzi, Giulio, additional, Di Fonzo, Alessio, additional, Locci, Clarissa, additional, Trezzi, Ilaria, additional, Zangaglia, Roberta, additional, Cereda, Cristina, additional, D’Alfonso, Sandra, additional, Magnani, Corrado, additional, Comi, Giacomo P., additional, Bono, Giorgio, additional, Pacchetti, Claudio, additional, Cantello, Roberto, additional, Goldwurm, Stefano, additional, and Comi, Cristoforo, additional

Published
2018
Full Text
View/download PDF

6. The Role of SNCA Rep1 Microsatellite in Parkinson’s Disease Progression

Author

Corrado, Lucia, primary, De Marchi, Fabiola, additional, Tunesi, Sara, additional, Oggioni, Gaia, additional, Carecchio, Miryam, additional, Magistrelli, Luca, additional, Tesei, Silvana, additional, Riboldazzi, Giulio, additional, Di Fonzo, Alessio, additional, Locci, Clarissa, additional, Trezzi, Ilaria, additional, Zangaglia, Roberta, additional, Cereda, Cristina, additional, D'Alfonso, Sandra, additional, Magnani, Corrado, additional, Giacomo Pietro, Comi, additional, Bono, Giorgio, additional, Pacchetti, Claudio, additional, Cantello, Roberto, additional, Goldwurm, Stefano, additional, and Comi, Cristoforo, additional

Published
2017
Full Text
View/download PDF

7. Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease

Author

Buongarzone, Gabriele, primary, Monfrini, Edoardo, additional, Franco, Giulia, additional, Trezzi, Ilaria, additional, Borellini, Linda, additional, Frattini, Emanuele, additional, Melzi, Valentina, additional, Di Caprio, Anna Chiara, additional, Ronchi, Dario, additional, Monzio Compagnoni, Giacomo, additional, Cogiamanian, Filippo, additional, Ardolino, Gianluca, additional, Bresolin, Nereo, additional, Comi, Giacomo P., additional, Corti, Stefania, additional, and Di Fonzo, Alessio, additional

Published
2017
Full Text
View/download PDF

8. Mutational analysis of COQ2 in patients with MSA in Italy

Author

Ronchi, Dario, primary, Di Biase, Ernesto, additional, Franco, Giulia, additional, Melzi, Valentina, additional, Del Sorbo, Francesca, additional, Elia, Antonio, additional, Barzaghi, Chiara, additional, Garavaglia, Barbara, additional, Bergamini, Christian, additional, Fato, Romana, additional, Mora, Gabriele, additional, Del Bo, Roberto, additional, Fortunato, Francesco, additional, Borellini, Linda, additional, Trezzi, Ilaria, additional, Compagnoni, Giacomo Monzio, additional, Monfrini, Edoardo, additional, Frattini, Emanuele, additional, Bonato, Sara, additional, Cogiamanian, Filippo, additional, Ardolino, Gianluca, additional, Priori, Alberto, additional, Bresolin, Nereo, additional, Corti, Stefania, additional, Comi, Giacomo Pietro, additional, and Di Fonzo, Alessio, additional

Published
2016
Full Text
View/download PDF

10. Optic Neuritis as Isolated Manifestation of Leptomeningeal Carcinomatosis: A Case Report and Systematic Review of Ocular Manifestations of Neoplastic Meningitis

Author

Lanfranconi, Silvia, Basilico, Paola, Trezzi, Ilaria, Borellini, Linda, Franco, Giulia, Civelli, Vittorio, Pallotti, Francesco, Bresolin, Nereo, and Baron, Pierluigi

Subjects
genetic structures, Article Subject, eye diseases
Abstract

Introduction. Leptomeningeal carcinomatosis occurs in about 5% of cancer patients. Ocular involvement is a common clinical manifestation and often the presenting clinical feature. Materials and Methods. We report the case of a 52-year old lady with optic neuritis as isolated manifestation of neoplastic meningitis and a review of ocular involvement in neoplastic meningitis. Ocular symptoms were the presenting clinical feature in 34 patients (83%) out of 41 included in our review, the unique manifestation of meningeal carcinomatosis in 3 patients (7%). Visual loss was the presenting clinical manifestation in 17 patients (50%) and was the most common ocular symptom (70%). Other ocular signs were diplopia, ptosis, papilledema, anisocoria, exophthalmos, orbital pain, scotomas, hemianopsia, and nystagmus. Associated clinical symptoms were headache, altered consciousness, meningism, limb weakness, ataxia, dizziness, seizures, and other cranial nerves involvement. All patients except five underwent CSF examination which was normal in 1 patient, pleocytosis was found in 11 patients, increased protein levels were observed in 16 patients, and decreased glucose levels were found in 8 patients. Cytology was positive in 29 patients (76%). Conclusion. Meningeal carcinomatosis should be considered in patients with ocular symptoms even in the absence of other suggestive clinical symptoms.

Published
2013
Full Text
View/download PDF

11. Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

Author

Di Fonzo, Alessio, primary, Ronchi, Dario, additional, Gallia, Francesca, additional, Cribiù, Fulvia Milena, additional, Trezzi, Ilaria, additional, Vetro, Annalisa, additional, Della Mina, Erika, additional, Limongelli, Ivan, additional, Bellazzi, Riccardo, additional, Ricca, Ivana, additional, Micieli, Giuseppe, additional, Fassone, Elisa, additional, Rizzuti, Mafalda, additional, Bordoni, Andreina, additional, Fortunato, Francesco, additional, Salani, Sabrina, additional, Mora, Gabriele, additional, Corti, Stefania, additional, Ceroni, Mauro, additional, Bosari, Silvano, additional, Zuffardi, Orsetta, additional, Bresolin, Nereo, additional, Nobile-Orazio, Eduardo, additional, and Comi, Giacomo Pietro, additional

Published
2014
Full Text
View/download PDF

14. Mutational analysis of COQ2 in patients with MSA in Italy

Author

Chiara Barzaghi, Alessio Di Fonzo, Antonio E. Elia, Barbara Garavaglia, Sara Bonato, Giulia Franco, Gianluca Ardolino, Filippo Cogiamanian, Christian Bergamini, Valentina Melzi, Stefania Corti, Gabriele Mora, Alberto Priori, Francesco Fortunato, Ilaria Trezzi, Linda Borellini, Giacomo Monzio Compagnoni, Ernesto Di Biase, Dario Ronchi, Giacomo P. Comi, Emanuele Frattini, Roberto Del Bo, Edoardo Monfrini, Nereo Bresolin, Romana Fato, Francesca Del Sorbo, Ronchi, Dario, Di Biase, Ernesto, Franco, Giulia, Melzi, Valentina, Del Sorbo, Francesca, Elia, Antonio, Barzaghi, Chiara, Garavaglia, Barbara, Bergamini, Christian, Fato, Romana, Mora, Gabriele, Del Bo, Roberto, Fortunato, Francesco, Borellini, Linda, Trezzi, Ilaria, Compagnoni, Giacomo Monzio, Monfrini, Edoardo, Frattini, Emanuele, Bonato, Sara, Cogiamanian, Filippo, Ardolino, Gianluca, Priori, Alberto, Bresolin, Nereo, Corti, Stefania, Comi, Giacomo Pietro, and Di Fonzo, Alessio

Subjects
Adult, Male, 0301 basic medicine, Aging, Cosegregation, Sequence analysis, DNA Mutational Analysis, COQ2, Disease, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Atrophy, stomatognathic system, parasitic diseases, mental disorders, MSA, medicine, Humans, In patient, Genetic Association Studies, Aged, Genetics, Alkyl and Aryl Transferases, Neuroscience (all), business.industry, General Neuroscience, Homozygote, CoQ10, Middle Aged, Multiple System Atrophy, medicine.disease, nervous system diseases, Mutational analysis, 030104 developmental biology, Italy, nervous system, Mutation, Etiology, Female, Neurology (clinical), Geriatrics and Gerontology, business, 030217 neurology & neurosurgery, Developmental Biology
Abstract

COQ2 mutations have been implicated in the etiology of multiple system atrophy (MSA) in Japan. However, several genetic screenings have not confirmed the role of its variants in the disease. We performed COQ2 sequence analysis in 87 probable MSA. A homozygous change p.A43G was found in an MSA-C patient. Cosegregation analysis and the evaluation of CoQ10 content in muscle and fibroblasts did not support the pathogenic role of this variant.

Published
2016

15. Lewy pathology formation in patient-derived GBA1 Parkinson's disease midbrain organoids.

Author

Frattini E, Faustini G, Lopez G, Carsana EV, Tosi M, Trezzi I, Magni M, Soldà G, Straniero L, Facchi D, Samarani M, Martá-Ariza M, De Luca CMG, Vezzoli E, Pittaro A, Stepanyan A, Silipigni R, Rosety I, Schwamborn JC, Sardi SP, Moda F, Corti S, Comi GP, Blandini F, Tritsch NX, Bortolozzi M, Ferrero S, Cribiù FM, Wisniewski T, Asselta R, Aureli M, Bellucci A, and Di Fonzo A

Abstract

Fibrillary aggregation of α-synuclein in Lewy body inclusions and nigrostriatal dopaminergic neuron degeneration define Parkinson's disease neuropathology. Mutations in GBA1, encoding glucocerebrosidase, are the most frequent genetic risk factor for Parkinson's disease. However, the lack of reliable experimental models able to reproduce key neuropathological signatures has hampered the clarification of the link between mutant glucocerebrosidase and Parkinson's disease pathology. Here, we describe an innovative protocol for the generation of human induced pluripotent stem cell-derived midbrain organoids containing dopaminergic neurons with nigral identity that reproduce characteristics of advanced maturation. When applied to patients with GBA1-related Parkinson's disease, this method enabled the differentiation of midbrain organoids recapitulating dopaminergic neuron loss and fundamental features of Lewy body pathology observed in human brains, including the generation of α-synuclein fibrillary aggregates with seeding activity that also propagate pathology in healthy control organoids. Still, we observed that the retention of mutant glucocerebrosidase in the endoplasmic reticulum and increased levels of its substrate glucosylceramide are determinants of α-synuclein aggregation into Lewy body-like inclusions. Consistently, the reduction of glucocerebrosidase activity accelerated α-synuclein pathology by promoting fibrillary α-synuclein deposition. Finally, we demonstrated the efficacy of ambroxol and GZ667161 - two modulators of the glucocerebrosidase pathway in clinical development for the treatment of GBA1-related Parkinson's disease - in reducing α-synuclein pathology in this model, supporting the use of midbrain organoids as a relevant pre-clinical platform for investigational drug screening., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain.)

Published
2024
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results