ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2026
Corticospinal conduction in RFC1-related disease: a transcranial magnetic stimulation study.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundBiallelic intronic expansions in RFC1 cause cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), which may present with hyperreflexia despite the coexistence of severe sensory neuropathy. The mechanism of this apparent corticospinal involvement remains unclear.
methodsWe assessed corticospinal tract integrity by transcranial magnetic stimulation (TMS) in 18 patients with genetically confirmed RFC1-related disease. Resting motor threshold (RMT), central motor conduction time (CMCT), and motor evoked potential/compound muscle action potential (MEP/CMAP) amplitude ratios were recorded bilaterally from the abductor pollicis brevis and abductor hallucis muscles. Clinical phenotype, neuroimaging, peripheral neurophysiology, and medication exposure were reviewed.
resultsAmong the 18 patients, 5 (28%) showed clinical hyperreflexia, 10 had full CANVAS, 4 had complex neuropathy phenotypes, and 4 had isolated sensory neuropathy. RMT, CMCT, and MEP/CMAP ratios did not differ significantly between patients with and without hyperreflexia. Neuroimaging did not reveal a structural central nervous system cause in the majority of cases.
conclusionsConventional TMS measures were within expected ranges and did not differ significantly according to hyperreflexia status. Hyperreflexia may occur in RFC1-related disease without detectable abnormalities in standard TMS metrics, although subtle corticospinal dysfunction cannot be excluded, particularly given the small sample size and the potential confounding effect of medication exposure.
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