%0 Journal Article
%A Traschütz, Andreas
%A Heindl, Felix
%A Bilal, Muhammad
%A Hartmann, Annette M
%A Dufke, Claudia
%A Riess, Olaf
%A Zwergal, Andreas
%A Rujescu, Dan
%A Haack, Tobias
%A Synofzik, Matthis
%A Strupp, Michael
%T Frequency and Phenotype of RFC1 Repeat Expansions in Bilateral Vestibulopathy.
%J Neurology
%V 101
%N 10
%@ 0028-3878
%C [Erscheinungsort nicht ermittelbar]
%I Ovid
%M DZNE-2023-00885
%P e1001 - e1013
%D 2023
%X 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
%K Humans
%K Bilateral Vestibulopathy: genetics
%K Bilateral Vestibulopathy: diagnosis
%K Dysarthria
%K Cerebellar Ataxia: diagnosis
%K Ataxia
%K Vestibular Diseases: genetics
%K Phenotype
%K Reflex, Abnormal
%K RFC1 protein, human (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%2 pmc:PMC10491447
%$ pmid:37460231
%R 10.1212/WNL.0000000000207553
%U https://pub.dzne.de/record/263799