TY  - JOUR
AU  - Traschütz, Andreas
AU  - Heindl, Felix
AU  - Bilal, Muhammad
AU  - Hartmann, Annette M
AU  - Dufke, Claudia
AU  - Riess, Olaf
AU  - Zwergal, Andreas
AU  - Rujescu, Dan
AU  - Haack, Tobias
AU  - Synofzik, Matthis
AU  - Strupp, Michael
TI  - Frequency and Phenotype of RFC1 Repeat Expansions in Bilateral Vestibulopathy.
JO  - Neurology
VL  - 101
IS  - 10
SN  - 0028-3878
CY  - [Erscheinungsort nicht ermittelbar]
PB  - Ovid
M1  - DZNE-2023-00885
SP  - e1001 - e1013
PY  - 2023
AB  - Bilateral vestibulopathy (BVP) is a chronic debilitating neurologic disorder with no monogenic cause established so far despite familiar presentations. We hypothesized that replication factor complex subunit 1 (RFC1) repeat expansions might present a recurrent monogenic cause of BVP.The study involved RFC1 screening and in-depth neurologic, vestibulo-oculomotor, and disease evolution phenotyping of 168 consecutive patients with idiopathic at least 'probable BVP' from a tertiary referral center for balance disorders, with127 of them meeting current diagnostic criteria of BVP (Bárány Society Classification).Biallelic AAGGG repeat expansions in RFC1 were identified in 10/127 patients (8
KW  - Humans
KW  - Bilateral Vestibulopathy: genetics
KW  - Bilateral Vestibulopathy: diagnosis
KW  - Dysarthria
KW  - Cerebellar Ataxia: diagnosis
KW  - Ataxia
KW  - Vestibular Diseases: genetics
KW  - Phenotype
KW  - Reflex, Abnormal
KW  - RFC1 protein, human (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C2  - pmc:PMC10491447
C6  - pmid:37460231
DO  - DOI:10.1212/WNL.0000000000207553
UR  - https://pub.dzne.de/record/263799
ER  -