Background Monoallelic variants in the KIF1A gene are associated with a large set of clinical phenotypes including neurodevelopmental and neurodegenerative disorders, underpinned by a broad spectrum of central and peripheral nervous system involvement. Methods In a multicenter study conducted in patients presenting spastic gait or complex neurodevelopmental disorders, we analyzed the clinical, genetic and neuroradiological features of 28 index cases harboring heterozygous variants in KIF1A. We conducted a literature systematic review with the aim to comparing our findings with previously reported KIF1A-related phenotypes.
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review / Della Vecchia, Stefania; Tessa, Alessandra; Dosi, Claudia; Baldacci, Jacopo; Pasquariello, Rosa; Antenora, Antonella; Astrea, Guja; Bassi, Maria Teresa; Battini, Roberta; Casali, Carlo; Cioffi, Ettore; Conti, Greta; De Michele, Giovanna; Ferrari, Anna Rita; Filla, Alessandro; Fiorillo, Chiara; Fusco, Carlo; Gallone, Salvatore; Germiniasi, Chiara; Guerrini, Renzo; Haggiag, Shalom; Lopergolo, Diego; Martinuzzi, Andrea; Melani, Federico; Mignarri, Andrea; Panzeri, Elena; Pini, Antonella; Pinto, Anna Maria; Pochiero, Francesca; Primiano, Guido; Procopio, Elena; Renieri, Alessandra; Romaniello, Romina; Sancricca, Cristina; Servidei, Serenella; Spagnoli, Carlotta; Ticci, Chiara; Rubegni, Anna; Santorelli, Filippo Maria. - In: JOURNAL OF NEUROLOGY. - ISSN 0340-5354. - ELETTRONICO. - 269:(2021), pp. 437-450. [10.1007/s00415-021-10792-3]
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
Conti, Greta;Guerrini, Renzo;Lopergolo, Diego;Melani, Federico;Mignarri, Andrea;Procopio, Elena;
2021
Abstract
Background Monoallelic variants in the KIF1A gene are associated with a large set of clinical phenotypes including neurodevelopmental and neurodegenerative disorders, underpinned by a broad spectrum of central and peripheral nervous system involvement. Methods In a multicenter study conducted in patients presenting spastic gait or complex neurodevelopmental disorders, we analyzed the clinical, genetic and neuroradiological features of 28 index cases harboring heterozygous variants in KIF1A. We conducted a literature systematic review with the aim to comparing our findings with previously reported KIF1A-related phenotypes.
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