{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T17:44:48Z","timestamp":1757699088413},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2008,12,12]],"date-time":"2008-12-12T00:00:00Z","timestamp":1229040000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Synapse"],"published-print":{"date-parts":[[2009,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective:<\/jats:title><jats:p>To examine the gene mutation associated with clinical phenotype from a Chinese kindred with autosomal dominant hereditary spastic paraplegia (ADHSP).<\/jats:p><\/jats:sec><jats:sec><jats:title>Method:<\/jats:title><jats:p>To perform linkage analysis and mutation detection. For two affected individual of the family, clinical analysis, electrophysiological examination, and MRI of brain and spinal cord were also performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Result:<\/jats:title><jats:p>A novel splice\u2010site mutation (<jats:italic>REEP1<\/jats:italic> c417+1g&gt;a) was identified. Central motor conduction time to the first metatarsal interosseus and anterior tibial muscles were clearly prolonged. Thoracic cord atrophy was found from T1 to T10.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion:<\/jats:title><jats:p>Our study supports that mutations in <jats:italic>REEP1<\/jats:italic> cause ADHSP and demonstrates genetic heterogeneity in ADHSP. Synapse 63:201\u2013205, 2009. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/syn.20602","type":"journal-article","created":{"date-parts":[[2008,12,12]],"date-time":"2008-12-12T18:14:49Z","timestamp":1229105689000},"page":"201-205","source":"Crossref","is-referenced-by-count":11,"title":["Clinical and genetic study of a novel mutation in the <i>REEP1<\/i> gene"],"prefix":"10.1002","volume":"63","author":[{"given":"Shi Guo","family":"Liu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feng Yuan","family":"Che","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue Yuan","family":"Heng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fei Feng","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shang Zhi","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"De Guo","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Su Jun","family":"Hou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shi En","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hai Ping","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xu","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,12,12]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410280109"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.7.1274"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.1.44"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00234-005-1415-3"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21005"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.69.2.150"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.64.1.61"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000031423.43482.19"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.56.2.175"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.61.12.1898"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2004.11.021"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.54.9.775"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000058769.75218.69"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-006-0029-1"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/505361"}],"container-title":["Synapse"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fsyn.20602","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/syn.20602","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T17:31:16Z","timestamp":1699983076000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/syn.20602"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,12,12]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,3]]}},"alternative-id":["10.1002\/syn.20602"],"URL":"https:\/\/doi.org\/10.1002\/syn.20602","archive":["Portico"],"relation":{},"ISSN":["0887-4476","1098-2396"],"issn-type":[{"value":"0887-4476","type":"print"},{"value":"1098-2396","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,12,12]]}}}