Why the study?
One-third of polyneuropathy patients remain undiagnosed as chronic idiopathic axonal polyneuropathy, and RFC1 expansions were hypothesized to underlie a fraction of idiopathic sensory neuropathies.
Do RFC1 expansions underlie a fraction of idiopathic sensory neuropathies diagnosed as chronic idiopathic axonal polyneuropathy?
Population
225 patients diagnosed with chronic idiopathic axonal polyneuropathy in Italy and the UK
Comparison
Sensory neuropathy (125 patients) vs sensory-motor neuropathy (100 patients) evaluated for RFC1 expansions
Design
Retrospective cohort study
Authors
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May support RFC1 testing in idiopathic sensory neuropathy; leaves open effects on management and prognosis.
Do RFC1 expansions underlie a fraction of idiopathic sensory neuropathies diagnosed as chronic idiopathic axonal polyneuropathy?
RFC1 expansions are a common cause of idiopathic sensory neuropathy, accounting for 34% of cases previously diagnosed as chronic idiopathic axonal polyneuropathy.
Curró et al. (2021) studied this question.
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