Frequency and Phenotype of RFC1 Repeat Expansions in Bilateral Vestibulopathy

Article Clinical Neurology

Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1

Laura Herrmann et al.

PARKINSONISM & RELATED DISORDERS (2022)

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Letter Clinical Neurology

Sensory axonal neuropathy in RFC1-disease: tip of the iceberg of broad subclinical multisystemic neurodegeneration

Andreas Traschuetz et al.

BRAIN (2022)

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Article Behavioral Sciences

Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS

Max Borsche et al.

Summary: This study investigated the association between disease duration and the severity of bilateral vestibulopathy in individuals with CANVAS and biallelic RFC1 repeat expansions. The results showed that the reduction in vestibulo-ocular reflex gain was associated with disease duration. The study also found that the pathological horizontal head impulse test could be used as a sign of bilateral vestibulopathy in genetically confirmed CANVAS, and it could precede clinically accessible cerebellar ataxia. Therefore, genetic testing for RFC1 mutations may allow for the detection of this disease before the onset of cerebellar signs.

BRAIN AND BEHAVIOR (2022)

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Article Clinical Neurology

RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology

Mehdi Benkirane et al.

Summary: This study identifies two patients with CANVAS who have a truncating variant in RFC1 along with a pathological expansion. The reduced RFC1 mRNA expression in these patients provides clues to the underlying disease pathophysiology.

BRAIN (2022)

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Review Clinical Neurology

Genetics and the Individualized Therapy of Vestibular Disorders

Christine Mei et al.

Summary: Vestibular disorders are a diverse group of conditions stemming from pathology in the inner ear, with a genetic basis similar to inherited hearing loss. Increasing research interest in vestibular disorder genetics and the use of new genetic tools may lead to personalized gene therapy for specific disorders.

FRONTIERS IN NEUROLOGY (2021)

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Article Clinical Neurology

RFC1 expansions are a common cause of idiopathic sensory neuropathy

Riccardo Curro et al.

Summary: A portion of patients diagnosed with chronic idiopathic axonal polyneuropathy may have underlying RFC1 expansions, with some patients experiencing misdiagnoses previously. Sensory neuropathy often presents as distal and symmetric sensory impairment, with some patients also showing vestibular and/or cerebellar involvement.

BRAIN (2021)

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Article Clinical Neurology

Brain Structural Signature of RFC1-Related Disorder

Paula Camila A. A. P. Matos et al.

Summary: The study found that RFC1-related disorder is characterized by widespread and relatively symmetric cerebellar and basal ganglia atrophy, as well as brainstem volumetric reduction along all its segments. Cerebral white matter is also involved, mostly the corpus callosum and deep tracts, but cerebral cortical damage is rather restricted. This study provides new insights into the pathophysiological mechanisms of RFC1-related disorder.

MOVEMENT DISORDERS (2021)

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Article Clinical Neurology