{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T17:01:26Z","timestamp":1778173286626,"version":"3.51.4"},"reference-count":19,"publisher":"Cambridge University Press (CUP)","issue":"6","license":[{"start":{"date-parts":[[2016,3,28]],"date-time":"2016-03-28T00:00:00Z","timestamp":1459123200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. J. Neurol. Sci."],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold><jats:italic>Background:<\/jats:italic><\/jats:bold> Hereditary spastic paraplegia (HSP) is a neurodegenerative disease that is characterized by progressive weakness and spasticity of the lower extremities; HSP can present as complicated forms with additional neurological signs. More than 70 disease <jats:italic>loci<\/jats:italic> have been described with different modes of inheritance. <jats:bold><jats:italic>Methods:<\/jats:italic><\/jats:bold> In this study, nine subjects from a Chinese family that included two individuals affected by HSP were examined through detailed clinical evaluations, physical examinations, and genetic tests. Targeted exome capture technology was used to identify gene mutations. <jats:bold><jats:italic>Results:<\/jats:italic><\/jats:bold> Two novel compound heterozygous mutations in the <jats:italic>SPG 11<\/jats:italic> gene were identified, c.4001_4002insATAAC and c.4057C&gt;G. The c.4001_4002insATAAC mutation leads to a reading frame shift during transcription, resulting in premature termination of the protein product. The missense mutation c.4057C&gt;G (p.H1353D) is located in a highly conserved domain and is predicted to be a damaging substitution. <jats:bold><jats:italic>Conclusions:<\/jats:italic><\/jats:bold> Based on the results described here, we propose that these novel compound heterozygous mutations in <jats:italic>SPG 11<\/jats:italic> are the genetic cause of autosomal recessive HSP in this Chinese family.<\/jats:p>","DOI":"10.1017\/cjn.2016.17","type":"journal-article","created":{"date-parts":[[2016,3,28]],"date-time":"2016-03-28T13:04:09Z","timestamp":1459170249000},"page":"833-840","source":"Crossref","is-referenced-by-count":3,"title":["Novel <i>SPG 11<\/i> Mutations in Hereditary Spastic Paraplegia With Thin Corpus Callosum in a Chinese Family"],"prefix":"10.1017","volume":"43","author":[{"given":"Xiaojie","family":"Tian","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaiyuan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinqing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2016,3,28]]},"reference":[{"key":"S0317167116000172_ref1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(08)70258-8"},{"key":"S0317167116000172_ref10","doi-asserted-by":"publisher","DOI":"10.1126\/science.1247363"},{"key":"S0317167116000172_ref15","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm293"},{"key":"S0317167116000172_ref8","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000319646.23052.d1"},{"key":"S0317167116000172_ref9","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-neuro-062111-150400"},{"key":"S0317167116000172_ref13","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200007)48:1<108::AID-ANA17>3.0.CO;2-A"},{"key":"S0317167116000172_ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2012.03.025"},{"key":"S0317167116000172_ref3","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(83)92879-9"},{"key":"S0317167116000172_ref16","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.63.5.756"},{"key":"S0317167116000172_ref5","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000294327.66106.3d"},{"key":"S0317167116000172_ref2","volume-title":"GeneReviews","author":"Fink","year":"1993"},{"key":"S0317167116000172_ref4","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.69.2.150"},{"key":"S0317167116000172_ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2013.11.004"},{"key":"S0317167116000172_ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2012.10.007"},{"key":"S0317167116000172_ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-010-0249-2"},{"key":"S0317167116000172_ref17","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-007-0444-y"},{"key":"S0317167116000172_ref18","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21310"},{"key":"S0317167116000172_ref11","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.64"},{"key":"S0317167116000172_ref14","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.62.2.262"}],"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences Neurologiques"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0317167116000172","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,18]],"date-time":"2019-04-18T21:58:51Z","timestamp":1555624731000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167116000172\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,28]]},"references-count":19,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["S0317167116000172"],"URL":"https:\/\/doi.org\/10.1017\/cjn.2016.17","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,3,28]]}}}