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Article

Frequency and Phenotype of RFC1 Repeat Expansions in Bilateral Vestibulopathy.

Neurology - 5 Sept 2023

Traschütz Andreas, Heindl Felix, Bilal Muhammad, Hartmann Annette M, Dufke Claudia, Riess Olaf, Zwergal Andreas, Rujescu Dan, Haack Tobias, Synofzik Matthis, Strupp Michael

Abstract excerpt

BACKGROUND AND OBJECTIVES: 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. METHODS: The study involved RFC1 screening and in-depth neurologic, vestibulo-oculomotor, and disease...

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Ataxia
Cerebellar Ataxia
Phenotype
Reflex, Abnormal
Vestibular Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37460231
DOI: 10.1212/WNL.0000000000207553
PMCID: PMC10491447

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