Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort.

ABSTRACT:

Background

Biallelic pentanucleotide expansions in RFC1 cause cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), and a growing spectrum of presentations. We aimed to clinically characterize a cohort of patients from Sweden with biallelic expansions in RFC1.

Methods

We retrospectively enrolled patients with homozygous expansions in RFC1 from a tertiary center in Sweden, evaluating clinical and genetic data. Assessments included nerve conduction studies (NCS, n = 27), electromyography (n = 7), quantitative sensory testing (n = 18), brain MRI (n = 27), and vestibular/eye motor tests (n = 18-21).

Results

Of the 30 patients enrolled, 28 were ethnic Swedish; 17/30 from smaller regions, including eight (27%) from Norrbotten. Twenty-two patients met the CA

SUBMITTER: Alm V 

PROVIDER: S-EPMC12849202 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature