{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T17:31:43Z","timestamp":1790011903415,"version":"4.0.1"},"reference-count":18,"publisher":"Cambridge University Press (CUP)","issue":"2","license":[{"start":{"date-parts":[[2014,12,2]],"date-time":"2014-12-02T00:00:00Z","timestamp":1417478400000},"content-version":"unspecified","delay-in-days":2772,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. j. neurol. sci."],"published-print":{"date-parts":[[2007,5]]},"abstract":"<jats:sec id=\"S0317167100006053_abs1\"><jats:title>Objective:<\/jats:title><jats:p>We report a multigenerational family with uncomplicated hereditary spastic paraplegia type 4 and apparent anticipation. Genetic analysis of the proband revealed a frame shift mutation (5 base pair deletion) in exon 9 of the SPG4 gene encoding the spastin protein. We hypothesized that this deletion mutation may be dynamic and variability in the size of the deletion could account for the anticipation.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100006053_abs2\"><jats:title>Methods:<\/jats:title><jats:p>Clinical and genetic analysis of this family and the deletion mutation.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100006053_abs3\"><jats:title>Results:<\/jats:title><jats:p>In this family, the age of onset, which ranges from 3 to 50 years shows an average decrease in the age of onset of 21.8 years per transmission over three generations. Genetic analysis of multiple family members indicates that all affected members carry the same c.1340_1344deITATAA mutation and that it is not dynamic.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100006053_abs4\"><jats:title>Conclusion:<\/jats:title><jats:p>In this family, other molecular mechanisms may contribute to development of anticipation.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s0317167100006053","type":"journal-article","created":{"date-parts":[[2014,12,12]],"date-time":"2014-12-12T10:27:42Z","timestamp":1418380062000},"page":"208-210","source":"Crossref","is-referenced-by-count":14,"title":["Possible Anticipation in Hereditary Spastic Paraplegia Type 4 (SPG4)"],"prefix":"10.1017","volume":"34","author":[{"given":"P. Leema","family":"Reddy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William K.","family":"Seltzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raji P.","family":"Grewal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2014,12,2]]},"reference":[{"key":"S0317167100006053_ref014","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(97)00107-X"},{"key":"S0317167100006053_ref018","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.74.8.1109"},{"key":"S0317167100006053_ref010","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990423)83:5<392::AID-AJMG10>3.0.CO;2-F"},{"key":"S0317167100006053_ref016","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(02)00239-2"},{"key":"S0317167100006053_ref003","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.9.1569"},{"key":"S0317167100006053_ref009","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.11.1811"},{"key":"S0317167100006053_ref004","doi-asserted-by":"publisher","DOI":"10.1038\/15472"},{"key":"S0317167100006053_ref006","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.9.3636"},{"key":"S0317167100006053_ref008","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/119.5.1487"},{"key":"S0317167100006053_ref005","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.4.637"},{"key":"S0317167100006053_ref001","doi-asserted-by":"publisher","DOI":"10.1016\/S0895-4356(97)00202-3"},{"key":"S0317167100006053_ref002","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/114.2.855"},{"key":"S0317167100006053_ref007","doi-asserted-by":"publisher","DOI":"10.1016\/0303-8467(93)90006-3"},{"key":"S0317167100006053_ref011","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200528"},{"key":"S0317167100006053_ref012","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970221)74:1<26::AID-AJMG7>3.0.CO;2-T"},{"key":"S0317167100006053_ref013","doi-asserted-by":"publisher","DOI":"10.1007\/s100480050014"},{"key":"S0317167100006053_ref015","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0404.2002.01254.x"},{"key":"S0317167100006053_ref017","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000125324.32082.D9"}],"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\/S0317167100006053","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,1]],"date-time":"2019-05-01T19:45:19Z","timestamp":1556739919000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167100006053\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,5]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2007,5]]}},"alternative-id":["S0317167100006053"],"URL":"https:\/\/doi.org\/10.1017\/s0317167100006053","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,5]]}}}