{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:49:22Z","timestamp":1787014162362,"version":"build-2736575974"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,9,17]],"date-time":"2021-09-17T00:00:00Z","timestamp":1631836800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Although hereditary ataxias are a group of clinically and genetically heterogeneous disorders, specific clinical clues can sometimes incriminate certain genes. This can trigger genetic testing in sporadic patients or prompt dissecting certain genes more thoroughly when initial genetic testing is negative. Also for the assembly of gene panels and interpretation of the results, genotype\u2212phenotype correlations remain important to establish.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We clinically evaluated a Belgian family with autosomal dominant inherited sensory ataxia and variable pyramidal involvement and performed targeted clinical exome sequencing. Secondly, we retrospectively screened sequencing data of an in\u2010house cohort of 404 patients with neuromuscular disorders for variants in the identified gene\n                      <jats:italic>RNF170<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      All affected family members showed sensory ataxia on examination. Pyramidal involvement, and sometimes slow\u2010pursuit abnormalities and\/or a sensory neuropathy, were more variable findings. We identified the heterozygous variant p.Arg199Cys in\n                      <jats:italic>RNF170<\/jats:italic>\n                      in all three affected siblings of our family. We did not find additional pathogenic variants in\n                      <jats:italic>RNF170<\/jats:italic>\n                      in our in\u2010house neuromuscular cohort.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We confirm the heterozygous variant p.Arg199Cys in\n                      <jats:italic>RNF170<\/jats:italic>\n                      in a Belgian family with autosomal dominant sensory ataxia and variable pyramidal involvement. This constitutes a rare but clinically recognizable phenotype that warrants testing of\n                      <jats:italic>RNF170<\/jats:italic>\n                      . Unlike the distinctive bi\u2010allelic loss of function variants in\n                      <jats:italic>RNF170<\/jats:italic>\n                      associated with hereditary spastic paraplegia (HSP), the p.Arg199Cys variant is the only one reported in sensory ataxia. It is important for neurologists to be aware of this characteristic phenotype and to include this gene in gene panels for ataxia and HSP.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.15091","type":"journal-article","created":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T14:12:37Z","timestamp":1630505557000},"page":"345-349","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["<i>RNF170<\/i>\n                    mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3005-3619","authenticated-orcid":false,"given":"Sien H.","family":"Van Daele","sequence":"first","affiliation":[{"name":"Department of Neurosciences, Experimental Neurology, and Leuven Brain Institute (LBI) KU Leuven \u2013 University of Leuven Leuven Belgium"},{"name":"Laboratory of Neurobiology VIB, Center for Brain &amp; Disease Research Leuven Belgium"},{"name":"Department of Neurology University Hospitals Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthieu","family":"Moisse","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Experimental Neurology, and Leuven Brain Institute (LBI) KU Leuven \u2013 University of Leuven Leuven Belgium"},{"name":"Laboratory of Neurobiology VIB, Center for Brain &amp; Disease Research Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Race","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Am\u00e9lie","family":"Van Eesbeeck","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liesbeth","family":"Keldermans","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sascha","family":"Vermeer","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilde","family":"Van Esch","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven Leuven Belgium"},{"name":"Laboratory for the Genetics of Cognition, Department of Human Genetics KU Leuven \u2013 University of Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9937-443X","authenticated-orcid":false,"given":"Kristl G.","family":"Claeys","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospitals Leuven Leuven Belgium"},{"name":"Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, and Leuven Brain Institute (LBI) KU Leuven \u2013 University of Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4010-2357","authenticated-orcid":false,"given":"Philip","family":"Van Damme","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Experimental Neurology, and Leuven Brain Institute (LBI) KU Leuven \u2013 University of Leuven Leuven Belgium"},{"name":"Laboratory of Neurobiology VIB, Center for Brain &amp; 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