{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T01:47:47Z","timestamp":1790387267342,"version":"4.1.0"},"reference-count":8,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,11,9]],"date-time":"2020-11-09T00:00:00Z","timestamp":1604880000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Spastic paraparesis and biallelic variants functionally characterized as deleterious in the <jats:italic>RNF170<\/jats:italic> gene have recently been reported by Wagner et al. 2019, strongly supporting the involvement of this gene in hereditary spastic paraplegia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Exome sequencing was performed on 6 hereditary spastic paraplegia families previously tested on an hereditary spastic paraplegia\u2013specific panel.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We describe here a novel hereditary spastic paraplegia family with 4 affected members carrying a homozygous p.(Tyr114*) stop gain variant in <jats:italic>RNF170<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We confirm the involvement of biallelic truncating variants in <jats:italic>RNF170<\/jats:italic> in a novel form of hereditary spastic paraplegia. \u00a9 2020 International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.28371","type":"journal-article","created":{"date-parts":[[2020,11,9]],"date-time":"2020-11-09T09:41:15Z","timestamp":1604914875000},"page":"771-774","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["<scp><i>RNF170<\/i><\/scp>\u2010Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation"],"prefix":"10.1002","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7753-8226","authenticated-orcid":false,"given":"Jean\u2010Madeleine","family":"de Sainte Agathe","sequence":"first","affiliation":[{"name":"Assistance Publique \u2013 H\u00f4pitaux de Paris, GH Sorbonne Universit\u00e9, D\u00e9partement de G\u00e9n\u00e9tique H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Mercier","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Nantes  Nantes France"},{"name":"Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires, AOC H\u00f4tel\u2010Dieu  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Yves","family":"Mah\u00e9","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires, AOC H\u00f4tel\u2010Dieu  Nantes France"},{"name":"\u00c9tablissement de Sant\u00e9 pour Enfants et Adolescents de la r\u00e9gion Nantaise  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann","family":"P\u00e9r\u00e9on","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires, AOC H\u00f4tel\u2010Dieu  Nantes France"},{"name":"Laboratoire d'Explorations Fonctionnelles CHU de Nantes  Nantes 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G\u00e9n\u00e9tique H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"St\u00e9vanin","sequence":"additional","affiliation":[{"name":"Institut du Cerveau Sorbonne Universit\u00e9 (INSERM 1127, CNRS 7225)  Paris France"},{"name":"\u00c9quipe de Neurog\u00e9n\u00e9tique, \u00c9cole Pratique des Hautes Etudes (EPHE) PSL Research University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,11,9]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.251983"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-011-0291-8"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1247363"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-12620-9"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq329"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.124"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.103777"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(98)01208-0"}],"container-title":["Movement 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