{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T12:57:29Z","timestamp":1760014649922,"version":"3.41.2"},"reference-count":11,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,4,7]],"date-time":"2021-04-07T00:00:00Z","timestamp":1617753600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hereditary spastic paraplegia is a rare familial hereditary neurodegenerative disease caused by multiple autosomal dominant mutations. More than 50 mutant genes have been reported to be associated with this disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, we have reported a rare insertion mutation site in <jats:italic>PRRT2<\/jats:italic> that caused a familial disorder of hereditary spastic paraplegia accompanied by polyneuropathy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We used second\u2010generation sequencing of samples of the proband's familial genome and found an insertion mutation of C\/CC in NM_001256443:c.641dupC that was localized to the second exon of <jats:italic>PRRT2<\/jats:italic>. This functional mutation can cause an amino acid sequence change (arginine &gt;proline) and dysfunctional neuronal transmembrane proteins, which might have been related to the onset of hereditary spastic paraplegia accompanied by polyneuropathy in the family reported in this study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The discovery of this mutation site provides an important theoretical basis for specific gene\u2010based diagnosis and treatment of hereditary spastic paraplegia.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.23772","type":"journal-article","created":{"date-parts":[[2021,4,7]],"date-time":"2021-04-07T13:53:09Z","timestamp":1617803589000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Association of an insertion mutation in <i>PRRT2<\/i> with hereditary spastic paraplegia accompanied by polyneuropathy"],"prefix":"10.1002","volume":"35","author":[{"given":"Zhaoyu","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Neurology First Affiliated Hospital of Dalian Medical University Dalian China"},{"name":"Department of Neurology The Central Hospital of Wuhan Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huijie","family":"Dong","sequence":"additional","affiliation":[{"name":"Department of Cardiology Second Affiliated Hospital of Dalian Medical University Dalian China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaofei","family":"Ji","sequence":"additional","affiliation":[{"name":"Department of Neurology First Affiliated Hospital of Dalian Medical University Dalian China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siyu","family":"Luan","sequence":"additional","affiliation":[{"name":"Department of Neurology First Affiliated Hospital of Dalian Medical University Dalian China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9732-5773","authenticated-orcid":false,"given":"Hua","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Neurology First Affiliated Hospital of Dalian Medical University Dalian China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,4,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000147298.05983.50"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2012.03.025"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.14887"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.13979"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00129"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.14768"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-014-7305-z"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.003"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31828cf7e1"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01715.x"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12056"}],"container-title":["Journal 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