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Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic

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  • Contributors AC: study concept and design, analysis and interpretation of data, draft of the manuscript. AC, IC, RC, EV, SC, MV, CT, AB, DDC, EA, GC, AP: acquisition of the data. AC, EB, AMR, SG, EV, HH, MMR: analysis and interpretation of the genetic data. All authors revised the manuscript.

  • Funding AC thanks Medical Research Council, (MR/T001712/1), Wellcome Trust (204841/Z/16/Z), Fondazione CARIPLO (2019–1836), Italian Ministry of Health Ricerca Corrente 2018–2019 and the Inherited Neuropathy Consortium (INC) for grant support. MMR is grateful to the Medical Research Council (MRC), MRC Centre grant (G0601943), and to the National Institutes of Neurological Diseases and Stroke and office of Rare Diseases (U54NS065712) for their support. The INC (U54NS065712) is a part of the NCATS Rare Diseases Clinical Research Network (RDCRN). RDCRN is an initiative of the Office of Rare Diseases Research (ORDR), NCATS, funded through a collaboration between NCATS and the NINDS. This research was also supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.