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Motor, Extrapyramidal, and Cognitive Involvement in RFC1 Disease: A Systematic Review and Meta-Analysis.

Sara Massucco¹, Mehrnaz Hamedani¹, Marta Ponzano²

¹Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy.

Neurology. Genetics

|May 11, 2026

Summary

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Replication factor C subunit 1 (RFC1) gene repeat expansions cause ataxia. This review found motor neuron, extrapyramidal, and cognitive symptoms are more common in RFC1 disease than previously thought, expanding its known spectrum.

Area of Science:

Genetics
Neurology
Systematic Reviews

Background:

Biallelic intronic repeat expansions in the RFC1 gene are a known cause of late-onset ataxias.
Recent evidence suggests a broader clinical presentation for RFC1-related disorders.

Purpose of the Study:

To systematically review and meta-analyze the prevalence and characteristics of motor neuron, extrapyramidal, and cognitive involvement in RFC1 disease.
To evaluate the expanded phenotypic spectrum of RFC1 disease.

Main Methods:

Systematic literature search of PubMed, Scopus, and Web of Science for genetically confirmed RFC1 disease cases.
Data extraction including individual participant data (IPD) on demographics, signs, and symptoms.
Random-effects models and mixed-effects logistic regression used for meta-analyses of pooled prevalences and associated factors.

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Main Results:

Motor neuron signs (upper/lower) were present in 18% and 11% of patients, respectively.
Parkinsonism prevalence was 8%, and cognitive impairment was 31%, with executive-attention deficits being prominent.
ACAGG repeat expansions were associated with higher odds of muscle atrophy and weakness; longer disease duration and AAGGG expansions correlated with cognitive decline.

Conclusions:

Motor neuron, extrapyramidal, and cognitive symptoms expand the known phenotype of RFC1 disease.
The true prevalence of these features remains uncertain due to study heterogeneity and potential biases.
Larger, standardized multicenter studies are needed to clarify the clinical significance of these findings.