TY  - JOUR
AU  - Traschuetz, Andreas
AU  - Cortese, Andrea
AU  - Reich, Selina
AU  - Dominik, Natalia
AU  - Faber, Jennifer
AU  - Jacobi, Heike
AU  - Hartmann, Annette M
AU  - Rujescu, Dan
AU  - Montaut, Solveig
AU  - Echaniz-Laguna, Andoni
AU  - Erer, Sevda
AU  - Schütz, Valerie Cornelia
AU  - Tarnutzer, Alexander A
AU  - Sturm, Marc
AU  - Haack, Tobias B
AU  - Vaucamps-Diedhiou, Nadège
AU  - Puccio, Helene
AU  - Schöls, Ludger
AU  - Klockgether, Thomas
AU  - van de Warrenburg, Bart P
AU  - Paucar, Martin
AU  - Timmann, Dagmar
AU  - Hilgers, Ralf-Dieter
AU  - Gazulla, Jose
AU  - Strupp, Michael
AU  - Moris, German
AU  - Filla, Alessandro
AU  - Houlden, Henry
AU  - Anheim, Mathieu
AU  - Infante, Jon
AU  - Basak, A Nazli
AU  - Synofzik, Matthis
AU  - Barut, Banu Özen
AU  - Bilgic, Basar
AU  - Boz, Cavit
AU  - Cauquil, Cécile
AU  - Deininger, Natalie
AU  - Dufke, Claudia
AU  - Elibol, Bülent
AU  - Erbas, Furkan
AU  - Ertan, Sibel
AU  - Genc, Fatma
AU  - Giegling, Ina
AU  - Parman, Yesim
AU  - Rossi, Salvatore
AU  - Salcin, Celal
AU  - Tan, Meliha
AU  - Taştekin, Hilal
AU  - Tranchant, Christine
AU  - Uygun, Günes
AU  - Yassa, Özge Yagcioglu
TI  - Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
JO  - Neurology
VL  - 96
IS  - 9
SN  - 1526-632X
CY  - [S.l.]
PB  - Ovid
M1  - DZNE-2021-01155
SP  - e1369 - e1382
PY  - 2021
AB  - 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
KW  - Adult
KW  - Aged
KW  - Ataxia
KW  - Bilateral Vestibulopathy
KW  - Cohort Studies
KW  - DNA Repeat Expansion
KW  - Disease Progression
KW  - Europe
KW  - Exome
KW  - Female
KW  - Genetic Testing
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Middle Aged
KW  - Multiple System Atrophy: diagnosis
KW  - Multiple System Atrophy: diagnostic imaging
KW  - Multiple System Atrophy: genetics
KW  - Phenotype
KW  - Predictive Value of Tests
KW  - Replication Protein C: genetics
KW  - Turkey
KW  - Vestibular Diseases
KW  - RFC1 protein, human (NLM Chemicals)
KW  - Replication Protein C (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:33495376
C2  - pmc:PMC8055326
DO  - DOI:10.1212/WNL.0000000000011528
UR  - https://pub.dzne.de/record/156023
ER  -