Article
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Neurology - 2 Mar 2021
Traschütz Andreas, Cortese Andrea, Reich Selina, Dominik Natalia, Faber Jennifer, Jacobi Heike, Hartmann Annette M, Rujescu Dan, Montaut Solveig, Echaniz-Laguna Andoni, Erer Sevda, Schütz Valerie Cornelia, Tarnutzer Alexander A, Sturm Marc, Haack Tobias B, Vaucamps-Diedhiou Nadège, Puccio Helene, Schöls Ludger, Klockgether Thomas, van de Warrenburg Bart P, Paucar Martin, Timmann Dagmar, Hilgers Ralf-Dieter, Gazulla Jose, Strupp Michael, Moris German, Filla Alessandro, Houlden Henry, Anheim Mathieu, Infante Jon, Basak A Nazli, Synofzik Matthis
Abstract excerpt
OBJECTIVE: To delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of replication factor complex subunit 1 (RFC1) repeat expansions, recently identified as causing cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). METHODS: Multimodal RFC1 repeat screening (PCR, Southern blot, whole-exome/genome sequencing-based...
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