%0 Journal Article
%A Traschuetz, Andreas
%A Cortese, Andrea
%A Reich, Selina
%A Dominik, Natalia
%A Faber, Jennifer
%A Jacobi, Heike
%A Hartmann, Annette M
%A Rujescu, Dan
%A Montaut, Solveig
%A Echaniz-Laguna, Andoni
%A Erer, Sevda
%A Schütz, Valerie Cornelia
%A Tarnutzer, Alexander A
%A Sturm, Marc
%A Haack, Tobias B
%A Vaucamps-Diedhiou, Nadège
%A Puccio, Helene
%A Schöls, Ludger
%A Klockgether, Thomas
%A van de Warrenburg, Bart P
%A Paucar, Martin
%A Timmann, Dagmar
%A Hilgers, Ralf-Dieter
%A Gazulla, Jose
%A Strupp, Michael
%A Moris, German
%A Filla, Alessandro
%A Houlden, Henry
%A Anheim, Mathieu
%A Infante, Jon
%A Basak, A Nazli
%A Synofzik, Matthis
%A Barut, Banu Özen
%A Bilgic, Basar
%A Boz, Cavit
%A Cauquil, Cécile
%A Deininger, Natalie
%A Dufke, Claudia
%A Elibol, Bülent
%A Erbas, Furkan
%A Ertan, Sibel
%A Genc, Fatma
%A Giegling, Ina
%A Parman, Yesim
%A Rossi, Salvatore
%A Salcin, Celal
%A Tan, Meliha
%A Taştekin, Hilal
%A Tranchant, Christine
%A Uygun, Günes
%A Yassa, Özge Yagcioglu
%T Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
%J Neurology
%V 96
%N 9
%@ 1526-632X
%C [S.l.]
%I Ovid
%M DZNE-2021-01155
%P e1369 - e1382
%D 2021
%X 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).Multimodal RFC1 repeat screening (PCR, Southern blot, whole-exome/genome sequencing-based approaches) combined with cross-sectional and longitudinal deep phenotyping in (1) cross-European cohort A (70 families) with ≥2 features of CANVAS or ataxia with chronic cough (ACC) and (2) Turkish cohort B (105 families) with unselected late-onset ataxia.Prevalence of RFC1 disease was 67
%K Adult
%K Aged
%K Ataxia
%K Bilateral Vestibulopathy
%K Cohort Studies
%K DNA Repeat Expansion
%K Disease Progression
%K Europe
%K Exome
%K Female
%K Genetic Testing
%K Humans
%K Magnetic Resonance Imaging
%K Male
%K Middle Aged
%K Multiple System Atrophy: diagnosis
%K Multiple System Atrophy: diagnostic imaging
%K Multiple System Atrophy: genetics
%K Phenotype
%K Predictive Value of Tests
%K Replication Protein C: genetics
%K Turkey
%K Vestibular Diseases
%K RFC1 protein, human (NLM Chemicals)
%K Replication Protein C (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:33495376
%2 pmc:PMC8055326
%R 10.1212/WNL.0000000000011528
%U https://pub.dzne.de/record/156023