RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.
Danique BeijerMaike F DohrnJonathan De WinterSarah FazalAndreas CorteseTanya StojkovicGorka Fernández-EulateGauthier RemicheMattia GentileRudy Van CosterClaudia DufkeMatthis SynofzikPeter De JongheStephan ZüchnerJonathan BaetsPublished in: European journal of neurology (2022)
We demonstrate that RFC1 is a frequent cause of (WES-negative) HSAN with chronic cough and ataxia. The diagnostic yield of RFC1 repeat-primed PCR was surprisingly high, given that HSAN is genetically poorly understood. This combination of HSAN, ataxia, and chronic cough symptoms represents a new nosological entity within the neuropathy-ataxia spectrum.