Federica Perrone
University of Antwerp
6 Papers
Federica Perrone is an academic researcher from University of Antwerp. The author has contributed to research in topics: Frontotemporal dementia & C9orf72. The author has an hindex of 5, co-authored 6 publications.
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Papers
Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients
Federica Perrone,Hung Phuoc Nguyen,Sara Van Mossevelde,Matthieu Moisse,Anne Sieben,Anne Sieben,Patrick Santens,Jan De Bleecker,Mathieu Vandenbulcke,Sebastiaan Engelborghs,Jonathan Baets,Patrick Cras,Rik Vandenberghe,Peter De Jonghe,Peter Paul De Deyn,Jean-Jacques Martin,Philip Van Damme,Christine Van Broeckhoven,Julie van der Zee,Dirk Nuytten,Katrien Smets,Jan Versijpt,Alex Michotte,Adrian Ivanoiu,Olivier Deryck,Bruno Bergmans,Jean Delbeck,Marc Bruyland,Christiana Willems,Eric Salmon +29 more
TL;DR: The present study confirms the role of CHCHD10 and TUBA4A in the FTD-ALS spectrum, although genetic variations in these 2 genes are extremely rare in the Belgian population and often associated with symptomatology of related neurodegenerative diseases including Parkinson's disease and Alzheimer's disease.
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Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis.
Federica Perrone,Rita Cacace,Sara Van Mossevelde,Tobi Van den Bossche,Peter Paul De Deyn,Patrick Cras,Sebastiaan Engelborghs,Julie van der Zee,Christine Van Broeckhoven +8 more
TL;DR: Overall, this study underscores the relevance of genetic testing of known causal genes in early-onset patients with symptomatology of neurodegenerative dementia but an unclear clinical diagnosis as well as a better understanding of the presence of multiple affected relatives in the family.
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Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD
Julie van der Zee,Peter Mariën,R. Crols,Sara Van Mossevelde,Lubina Dillen,Federica Perrone,Sebastiaan Engelborghs,Jo Verhoeven,Tine D’aes,Chantal Ceuterick-de Groote,Anne Sieben,Jan Versijpt,Patrick Cras,Jean-Jacques Martin,Christine Van Broeckhoven +14 more
TL;DR: The findings suggest that CTSF genetic testing should also be considered in patients with KD type A as well as in early-onset dementia with prominent frontal lobe and motor symptoms.
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Amyloid-β1–43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations
Federica Perrone,Maria Bjerke,Maria Bjerke,Elisabeth Hens,Anne Sieben,Maarten Timmers,Maarten Timmers,Arne De Roeck,Rik Vandenberghe,Rik Vandenberghe,Kristel Sleegers,Jean-Jacques Martin,Peter Paul De Deyn,Sebastiaan Engelborghs,Sebastiaan Engelborghs,Julie van der Zee,Christine Van Broeckhoven,Rita Cacace +17 more
TL;DR: The observed reduction of Aβ1–43 in APP and PSENs carriers highlights the pathogenic role of longer Aβ peptides in AD pathogenesis and could prove useful in understanding the pathogenicity of unclear APP andPSENs variants.
24
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Julie van der Zee,Ilse Gijselinck,Sara Van Mossevelde,Federica Perrone,Lubina Dillen,Bavo Heeman,Veerle Bäumer,Sebastiaan Engelborghs,Jan De Bleecker,Jonathan Baets,Ellen Gelpi,Ricardo Rojas-García,Jordi Clarimón,Alberto Lleó,Janine Diehl-Schmid,Panagiotis Alexopoulos,Robert Perneczky,Robert Perneczky,Matthis Synofzik,Jennifer Just,Ludger Schöls,Caroline Graff,Caroline Graff,Håkan Thonberg,Håkan Thonberg,Barbara Borroni,Alessandro Padovani,Albena Jordanova,Albena Jordanova,Stayko Sarafov,Ivailo Tournev,Alexandre de Mendonça,Gabriel Miltenberger-Miltenyi,Frederico Simões do Couto,Alfredo Ramirez,Alfredo Ramirez,Frank Jessen,Frank Jessen,Frank Jessen,Michael T. Heneka,Michael T. Heneka,Estrella Gómez-Tortosa,Adrian Danek,Adrian Danek,Patrick Cras,Rik Vandenberghe,Peter De Jonghe,Peter Paul De Deyn,Kristel Sleegers,Marc Cruts,Christine Van Broeckhoven,Johan Goeman,Dirk Nuytten,Katrien Smets,Wim Robberecht,Philip Van Damme,Patrick Santens,Bart Dermaut,Jan Versijpt,Alex Michotte,Adrian Ivanoiu,Olivier Deryck,Bruno Bergmans,Jean Delbeck,Marc Bruyland,Christiana Willems,Eric Salmon,Pau Pastor,Pau Pastor,Sara Ortega-Cubero,Luisa Benussi,Roberta Ghidoni,Giuliano Binetti,Isabel Hernández,Mercè Boada,Agustín Ruiz,Sandro Sorbi,Benedetta Nacmias,Silvia Bagnoli,Raquel Sánchez-Valle,Albert Lladó,Isabel Santana,Maria Rosário Almeida,Giovanni B. Frisoni,Walter Maetzler,Radoslav Matej,Matthew J. Fraidakis,Gabor G. Kovacs,Gian Maria Fabrizi,Silvia Testi +89 more
TL;DR: The mutation spectrum of the TANK‐Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum is investigated by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia, ALS, or FTD plus ALS ascertained within the European Early‐Onset Dementia Consortium.