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Publication Detail
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.
  • Publication Type:
    Journal article
  • Publication Sub Type:
  • Authors:
    Beijer D, Dohrn MF, De Winter J, Fazal S, Cortese A, Stojkovic T, Fernández-Eulate G, Remiche G, Gentile M, Van Coster R, Dufke C, Synofzik M, De Jonghe P, Züchner S, Baets J
  • Publisher:
  • Publication date:
  • Journal:
    European Journal of Neurology
  • Status:
    Published online
  • Country:
  • Print ISSN:
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  • Keywords:
    RFC1 repeat-primed PCR, afferent ataxia, autonomic dysfunction, chronic cough, next generation sequencing
BACKGROUND: Ataxia and cough are rare features in hereditary sensory and autonomic neuropathies (HSAN), a group of diseases of mostly unknown genetic cause. Biallelic repeat expansions in RFC1 are associated with cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). METHODS: After unremarkable whole-exome sequencing (WES) analysis, we performed a repeat-primed PCR to detect intronic RFC1 expansions in 12 HSAN families, which all presented with chronic cough. RESULTS: In these patients, 75% carried biallelic expansions of the pathogenic AAGGG motif. Compared to RFC1-/- cases, RFC1+/+ patients presented more consistently with positive sensory and autonomic symptoms. Afferent ataxia was more severe in the RFC1+/+ cohort and cerebellar ataxia was a common feature (21%). CONCLUSIONS: 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 symptoms HSAN, ataxia, and chronic cough symptoms represents a new nosological entity within the neuropathy-ataxia spectrum.
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