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Bi\u2010allelic pathogenic variants in\n                    <jats:italic>FIG4<\/jats:italic>\n                    are associated with neurological disorders including Charcot\u2010Marie\u2010Tooth disease type\u20104J (CMT4J) and Yunis\u2010Var\u00f3n syndrome (YVS). We present four probands from three unrelated families, all homozygous for a recurrent\n                    <jats:italic>FIG4<\/jats:italic>\n                    missense variant c.506A&gt;C p.(Tyr169Ser), with a novel phenotype involving features of both CMT4J and YVS. Three presented with infant\u2010onset dystonia and one with hypotonia. All have depressed lower limb reflexes and distal muscle weakness, two have nerve conduction studies (NCS) consistent with severe sensorimotor demyelinating peripheral neuropathy and one had NCS showing patchy intermediate\/mildly reduced motor conduction velocities. All have cognitive impairment and three have swallowing difficulties. MRI showed cerebellar atrophy and bilateral T2 hyperintense medullary swellings in all patients. These children represent a novel clinicoradiological phenotype and suggest that phenotypes associated with\n                    <jats:italic>FIG4<\/jats:italic>\n                    missense variants do not neatly fall into previously described diagnoses but can present with variable features. Analysis of this gene should be considered in patients with central and peripheral neurological signs and medullary radiological changes, providing earlier diagnosis and informing reproductive choices.\n                  <\/jats:p>","DOI":"10.1111\/cge.13771","type":"journal-article","created":{"date-parts":[[2020,5,9]],"date-time":"2020-05-09T00:03:37Z","timestamp":1588982617000},"page":"147-154","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Clinical and radiological characterization of novel\n                    <scp>\n                      <i>FIG4<\/i>\n                    <\/scp>\n                    \u2010related combined system disease with neuropathy"],"prefix":"10.1111","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0635-0813","authenticated-orcid":false,"given":"Georgia C.","family":"Wright","sequence":"first","affiliation":[{"name":"University of Cambridge School of Clinical Medicine  Cambridge United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Brown","sequence":"additional","affiliation":[{"name":"Paediatrics North West Anglia NHS Foundation Trust  Peterborough United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Grayton","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Addenbrooke's Hospital East Anglian Genetics Service  Cambridge United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John H.","family":"Livingston","sequence":"additional","affiliation":[{"name":"Paediatric Neurology The Leeds Teaching Hospitals NHS Trust, Leeds General Infirmary  Leeds United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soo\u2010Mi","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Addenbrooke's Hospital East Anglian Genetics Service  Cambridge United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alasdair P.J.","family":"Parker","sequence":"additional","affiliation":[{"name":"University of Cambridge School of Clinical Medicine  Cambridge United Kingdom"},{"name":"Paediatric Neurology Cambridge University Hospitals NHS Trust  Cambridge United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anjla","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurophysiology Cambridge University Hospitals NHS Trust  Cambridge United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Simonic","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Addenbrooke's Hospital East Anglian Genetics Service  Cambridge United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam G.","family":"Thomas","sequence":"additional","affiliation":[{"name":"Neuroradiology, Queens Medical 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