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Your search keyword '"Ciscato, Patrizia"' showing total 18 results
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18 results on '"Ciscato, Patrizia"'

1. A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy

Author

Ronchi, Dario, Garbellini, Manuela, Magri, Francesca, Menni, Francesca, Meneri, Megi, Bedeschi, Maria Francesca, Dilena, Robertino, Cecchetti, Valeria, Picciolli, Irene, Furlan, Francesca, Polimeni, Valentina, Salani, Sabrina, Pezzoli, Laura, Fortunato, Francesco, Bellini, Matteo, Piga, Daniela, Ripolone, Michela, Zanotti, Simona, Napoli, Laura, Ciscato, Patrizia, Sciacco, Monica, Mangili, Giovanna, Mosca, Fabio, Corti, Stefania, Iascone, Maria, and Comi, Giacomo Pietro

Published
2023
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5. Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition

Author

Piga, Daniela, primary, Rimoldi, Martina, additional, Magri, Francesca, additional, Zanotti, Simona, additional, Napoli, Laura, additional, Ripolone, Michela, additional, Pagliarani, Serena, additional, Ciscato, Patrizia, additional, Velardo, Daniele, additional, D’Amico, Adele, additional, Bertini, Enrico, additional, Comi, Giacomo Pietro, additional, Ronchi, Dario, additional, and Corti, Stefania, additional

Published
2024
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7. Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy.

Author

Piga, Daniela, Zanotti, Simona, Ripolone, Michela, Napoli, Laura, Ciscato, Patrizia, Gibertini, Sara, Maggi, Lorenzo, Fortunato, Francesco, Rigamonti, Andrea, Ronchi, Dario, Comi, Giacomo Pietro, Corti, Stefania, and Sciacco, Monica

Subjects
INCLUSION body myositis, CELLULAR inclusions, NEMALINE myopathy, MUSCLE weakness, MYOSITIS, MUSCLE diseases, NUCLEOTIDE sequencing
Abstract

Inclusion body myositis (IBM) is a slowly progressive disorder belonging to the idiopathic inflammatory myopathies, and it represents the most common adult-onset acquired myopathy. The main clinical features include proximal or distal muscular asymmetric weakness, with major involvement of long finger flexors and knee extensors. The main histological findings are the presence of fiber infiltrations, rimmed vacuoles, and amyloid inclusions. The etiopathogenesis is a challenge because both environmental and genetic factors are implicated in muscle degeneration and a distinction has been made previously between sporadic and hereditary forms. Here, we describe an Italian patient affected with a hereditary form of IBM with onset in his mid-forties. Next-generation sequencing analysis disclosed a heterozygous mutation c.76C>T (p.Pro26Ser) in the PDZ motif of the LDB3/ZASP gene, a mutation already described in a family with a late-onset myopathy and highly heterogenous degree of skeletal muscle weakness. In the proband's muscle biopsy, the expression of ZASP, myotilin, and desmin were increased. In our family, in addition to the earlier age of onset, the clinical picture is even more peculiar given the evidence, in one of the affected family members, of complete ophthalmoplegia in the vertical gaze. These findings help extend our knowledge of the clinical and genetic background associated with inclusion body myopathic disorders. [ABSTRACT FROM AUTHOR]

Published
2024
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9. Lafora Disease: A Case Report and Evolving Treatment Advancements

Author

Ferrari Aggradi, Carola Rita, primary, Rimoldi, Martina, additional, Romagnoli, Gloria, additional, Velardo, Daniele, additional, Meneri, Megi, additional, Iacobucci, Davide, additional, Ripolone, Michela, additional, Napoli, Laura, additional, Ciscato, Patrizia, additional, Moggio, Maurizio, additional, Comi, Giacomo Pietro, additional, Ronchi, Dario, additional, Corti, Stefania, additional, and Abati, Elena, additional

Published
2023
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10. Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene

Author

Zanotti, Simona, primary, Ripolone, Michela, additional, Napoli, Laura, additional, Velardo, Daniele, additional, Salani, Sabrina, additional, Ciscato, Patrizia, additional, Priori, Silvia, additional, Kukavica, Deni, additional, Mazzanti, Andrea, additional, Diamanti, Luca, additional, Vegezzi, Elisa, additional, Moggio, Maurizio, additional, Corti, Stefania, additional, Comi, Giacomo, additional, and Sciacco, Monica, additional

Published
2023
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11. Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant.

Author

Rimoldi, Martina, Magri, Francesca, Antognozzi, Sara, Ripolone, Michela, Salani, Sabrina, Piga, Daniela, Bertolasi, Letizia, Zanotti, Simona, Ciscato, Patrizia, Fortunato, Francesco, Moggio, Maurizio, Corti, Stefania, Comi, Giacomo Pietro, and Ronchi, Dario

Subjects
CYTOCHROME oxidase, MITOCHONDRIA, HEARING disorders, MUSCLE weakness, CLINICAL deterioration, RETINITIS pigmentosa
Abstract

Isolated mitochondrial respiratory chain Complex IV (Cytochrome c Oxidase or COX) deficiency is the second most frequent isolated respiratory chain defect. Causative mutations are mainly identified in structural COX subunits or in proteins involved in the maturation and assembly of the COX holocomplex. We describe an Italian familial case of mitochondrial myopathy due to a variant in the COX assembly factor 8 gene (COA8). Patient 1 is a 52-year-old woman who presented generalized epilepsy and retinitis pigmentosa at 10 years of age. From her early adulthood she complained about cramps and myalgia after exercise, and bilateral hearing loss emerged. Last neurological examination (52 years of age) showed bilateral ptosis, muscle weakness, peripheral neuropathy, mild dysarthria and dysphonia, cognitive impairment. Muscle biopsy had shown the presence of ragged-red fibers. Patient 2 (Patient 1's sister) is a 53-year-old woman presenting fatigability, myalgia, and hearing loss. Neurological examination showed ptosis and muscle weakness. Muscle biopsy displayed a diffuse reduction of COX activity staining and ragged-red fibers. Both sisters presented secondary amenorrhea. After ruling out mtDNA mutations, Whole Exome Sequencing analysis identified the novel homozygous COA8 defect c.170_173dupGACC, p.(Pro59fs) in the probands. Loss-of-function COA8 mutations have been associated with cavitating leukoencephalopathy with COX deficiency in 9 reported individuals. Disease course shows an earlyonset rapid clinical deterioration, affecting both cognitive and motor functions over months, followed by stabilization and slow improvement over several years. Our findings expand the clinical spectrum of COA8-related disease. We confirm the benign course of this rare disorder, highlighting its (intrafamilial) clinical variability. [ABSTRACT FROM AUTHOR]

Published
2023
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12. Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes

Author

Zanotti, Simona, primary, Magri, Francesca, additional, Salani, Sabrina, additional, Napoli, Laura, additional, Ripolone, Michela, additional, Ronchi, Dario, additional, Fortunato, Francesco, additional, Ciscato, Patrizia, additional, Velardo, Daniele, additional, D’Angelo, Maria Grazia, additional, Gualandi, Francesca, additional, Nigro, Vincenzo, additional, Sciacco, Monica, additional, Corti, Stefania, additional, Comi, Giacomo Pietro, additional, and Piga, Daniela, additional

Published
2023
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14. Immunofluorescence signal intensity measurements as a semi-quantitative tool to assess sarcoglycan complex expression in muscle biopsy

Author

Zanotti, Simona, primary, Magri, Francesca, additional, Poggetti, Francesca, additional, Ripolone, Michela, additional, Velardo, Daniele, additional, Fortunato, Francesco, additional, Ciscato, Patrizia, additional, Moggio, Maurizio, additional, Corti, Stefania, additional, Comi, Giacomo Pietro, additional, and Sciacco, Monica, additional

Published
2022
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15. Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene

Author

Magri, Francesca, primary, Zanotti, Simona, additional, Salani, Sabrina, additional, Fortunato, Francesco, additional, Ciscato, Patrizia, additional, Gerevini, Simonetta, additional, Maggi, Lorenzo, additional, Sciacco, Monica, additional, Moggio, Maurizio, additional, Corti, Stefania, additional, Bresolin, Nereo, additional, Comi, Giacomo Pietro, additional, and Ronchi, Dario, additional

Published
2022
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17. Additional file 1 of Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review

Author

Magri, Francesca, Antognozzi, Sara, Ripolone, Michela, Zanotti, Simona, Napoli, Laura, Ciscato, Patrizia, Velardo, Daniele, Scuvera, Giulietta, Nicotra, Valeria, Giacobbe, Antonella, Milani, Donatella, Fortunato, Francesco, Garbellini, Manuela, Sciacco, Monica, Corti, Stefania, Comi, Giacomo Pietro, and Ronchi, Dario

Abstract

Additional file1: Supplementary Table 1. Clinical, instrumental, histological and molecular features of CHKB-mutated MCMD patients reported so far (y: years; m: months; d: days; NA: not assessed; DCM: dilated cardiomyopathy; LVFS: left ventricular systolic function; PDA: Patent ductus arteriosus).

Published
2022
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18. A biallelic variant in COX18cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy

Author

Ronchi, Dario, Garbellini, Manuela, Magri, Francesca, Menni, Francesca, Meneri, Megi, Bedeschi, Maria Francesca, Dilena, Robertino, Cecchetti, Valeria, Picciolli, Irene, Furlan, Francesca, Polimeni, Valentina, Salani, Sabrina, Pezzoli, Laura, Fortunato, Francesco, Bellini, Matteo, Piga, Daniela, Ripolone, Michela, Zanotti, Simona, Napoli, Laura, Ciscato, Patrizia, Sciacco, Monica, Mangili, Giovanna, Mosca, Fabio, Corti, Stefania, Iascone, Maria, and Comi, Giacomo Pietro

Abstract

Pathogenic variants impacting upon assembly of mitochondrial respiratory chain Complex IV (Cytochrome c Oxidase or COX) predominantly result in early onset mitochondrial disorders often leading to CNS, skeletal and cardiac muscle manifestations. The aim of this study is to describe a molecular defect in the COX assembly factor gene COX18as the likely cause of a neonatal form of mitochondrial encephalo-cardio-myopathy and axonal sensory neuropathy. The proband is a 19-months old female displaying hypertrophic cardiomyopathy at birth and myopathy with axonal sensory neuropathy and failure to thrive developing in the first months of life. Serum lactate was consistently increased. Whole exome sequencing allowed the prioritization of the unreported homozygous substitution NM_001297732.2:c.667 G > C p.(Asp223His) in COX18. Patient’s muscle biopsy revealed severe and diffuse COX deficiency and striking mitochondrial abnormalities. Biochemical and enzymatic studies in patient’s myoblasts and in HEK293 cells after COX18silencing showed a severe impairment of both COX activity and assembly. The biochemical defect was partially rescued by delivery of wild-type COX18cDNA into patient’s myoblasts. Our study identifies a novel defect of COX assembly and expands the number of nuclear genes involved in a mitochondrial disorder due to isolated COX deficiency.

Published
2023
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