Article
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.
Movement disorders : official journal of the Movement Disorder Society - 1 Jan 2024
Quartesan Ilaria, Vegezzi Elisa, Currò Riccardo, Heslegrave Amanda, Pisciotta Chiara, Iruzubieta Pablo, Salvalaggio Alessandro, Fernández-Eulate Gorka, Dominik Natalia, Rugginini Bianca, Manini Arianna, Abati Elena, Facchini Stefano, Manso Katarina, Albajar Ines, Laban Rhiannon, Rossor Alexander M, Pichiecchio Anna, Cosentino Giuseppe, Saveri Paola, Salsano Ettore, Andreetta Francesca, Valente Enza M, Zetterberg Henrik, Giunti Paola, Stojkovic Tanya, Briani Chiara, López de Munain Adolfo, Pareyson Davide, Reilly Mary M, Houlden Henry, Tassorelli Cristina, Cortese Andrea
Abstract excerpt
BACKGROUND: Biallelic intronic AAGGG repeat expansions in the replication factor complex subunit 1 (RFC1) gene were identified as the leading cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome. Patients exhibit significant clinical heterogeneity and variable disease course, but no potential biomarker has been identified to date. OBJECTIVES: In this multicenter cross-sectional study, we aimed to...
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