Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.

ABSTRACT:

Objective

To delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of replication factor complex subunit 1 (RFC1) repeat expansions, recently identified as causing cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS).

Methods

Multimodal RFC1 repeat screening (PCR, Southern blot, whole-exome/genome sequencing-based approaches) combined with cross-sectional and longitudinal deep phenotyping in (1) cross-European cohort A (70 families) with ≥2 features of CANVAS or ataxia with chronic cough (ACC) and (2) Turkish cohort B (105 families) with unselected late-onset ataxia.

Results

Prevalence of RFC1 disease was 67% in cohort A, 14% in unselected cohort B, 68% in clinical

SUBMITTER: Traschutz A 

PROVIDER: S-EPMC8055326 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature