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Related Experiment Video

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Using Unidirectional Rotations to Improve Vestibular System Asymmetry in Patients with Vestibular Dysfunction

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Acute Vestibular Syndrome Unmasking an RFC1-Spectrum Disorder.

Luca Verrecchia¹, Victor Alm², Håkan Thonberg³

¹ENT Unit, Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden.

Neurology. Genetics

|January 22, 2025

Summary

A rare RFC1-spectrum disorder can present with acute vestibular syndrome and cough, even without typical neuropathy. Genetic testing confirmed a pentanucleotide expansion in RFC1, expanding the known clinical spectrum.

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Area of Science:

Neurology
Genetics

Background:

Biallelic pentanucleotide expansions in RFC1 cause cerebellar ataxia, neuropathy, and vestibular areflexia syndrome.
A broad clinical spectrum associated with RFC1 expansions is increasingly recognized.

Purpose of the Study:

To report a case of RFC1-spectrum disorder presenting with acute vestibular syndrome.
To highlight an unusual presentation of RFC1-spectrum disorder.

Main Methods:

Clinical evaluation, neuroimaging, vestibular function tests, and nerve conduction studies were performed.
Short-read whole-genome sequencing (WGS) and long-read adaptive sequencing were utilized for genetic analysis.

Main Results:

The patient presented with acute vestibular syndrome, followed by bilateral vestibular areflexia and gait ataxia.
Despite normal brain MRI and electrophysiology, severe cough spells suggested RFC1-spectrum disorder.
WGS identified a recessive intronic pentanucleotide expansion in RFC1, confirmed by long-read sequencing.

Conclusions:

Acute vestibular syndrome and cough spells can be presenting symptoms of RFC1-spectrum disorder.
RFC1-spectrum disorder should be suspected even without neuropathy or neuroradiologic findings.
This case expands the clinical presentation of RFC1-spectrum disorders.