{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T06:06:47Z","timestamp":1776146807341,"version":"3.50.1"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,3,18]],"date-time":"2014-03-18T00:00:00Z","timestamp":1395100800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004606","name":"Chang Gung Medical Foundation, Taiwan","doi-asserted-by":"crossref","award":["BMRPG390041"],"award-info":[{"award-number":["BMRPG390041"]}],"id":[{"id":"10.13039\/501100004606","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2015,1]]},"abstract":"Background and purpose<\/jats:title>Spastic paraplegia type 5 (SPG<\/jats:styled-content>5) is an autosomal recessive (AR<\/jats:styled-content>) hereditary spastic paraplegia (HSP<\/jats:styled-content>) associated with pure or complicated phenotypes. This study aimed to screen SPG<\/jats:styled-content>5 in Taiwanese HSP<\/jats:styled-content> patients.<\/jats:p><\/jats:sec>Methods<\/jats:title>Sequencing of the SPG<\/jats:styled-content>5 gene, CYP<\/jats:styled-content>7B1<\/jats:italic>, was performed in a cohort of 25 ethnic Han Taiwanese patients with AR<\/jats:styled-content> or sporadic HSP<\/jats:styled-content>. Clinical information and magnetic resonance imaging (MRI<\/jats:styled-content>) were analyzed in confirmed SPG<\/jats:styled-content>5 patients.<\/jats:p><\/jats:sec>Results<\/jats:title>One (33%) AR<\/jats:styled-content> kindred and four (18%) sporadic cases had CYP<\/jats:styled-content>7B1<\/jats:italic> mutations. All of the SPG<\/jats:styled-content>5 cases carried the mutation c.334 C>T (R112X). Haplotype analysis suggested a \u2018founder effect\u2019 in ethnic Hans for this mutation. The phenotype was either pure or complicated by cerebellar ataxia. For the primary HSP<\/jats:styled-content> phenotype, there were profound dorsal column sensory deficits in all patients. Spine MRI<\/jats:styled-content> showed thoraco\u2010lumbar cord atrophy in some patients.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>Spastic paraplegia type 5 is a common cause of AR<\/jats:styled-content> and sporadic HSP<\/jats:styled-content>s that has a higher frequency in Taiwanese than in other ethnic groups. It is associated with a CYP<\/jats:styled-content>7B1<\/jats:italic> founder mutation and its phenotype is characterized by pronounced dorsal column sensory loss, with cerebellar ataxia in some patients.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.12407","type":"journal-article","created":{"date-parts":[[2014,3,18]],"date-time":"2014-03-18T10:30:54Z","timestamp":1395138654000},"page":"211-214","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Clinical and genetic analysis of T<\/scp>aiwanese patients with hereditary spastic paraplegia type 5"],"prefix":"10.1111","volume":"22","author":[{"given":"M.\u2010Y.","family":"Lan","sequence":"first","affiliation":[{"name":"Center for Parkinson's Disease Department of Neurology Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine Kaohsiung Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.\u2010H.","family":"Yeh","sequence":"additional","affiliation":[{"name":"Neuroscience Research Center Chang Gung Memorial Hospital Linkou Taiwan"},{"name":"Division of Movement Disorder Chang Gung Memorial Hospital Linkou Taiwan"},{"name":"Department of Neurology Chang Gung Memorial Hospital Linkou Taiwan"},{"name":"Healthy Aging Research Center and College of Medicine Chang Gung University Linkou Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.\u2010Y.","family":"Chang","sequence":"additional","affiliation":[{"name":"Center for Parkinson's Disease Department of Neurology Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine Kaohsiung Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.\u2010C.","family":"Kuo","sequence":"additional","affiliation":[{"name":"Department of Neurology Chang Gung Memorial Hospital Linkou Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. S.","family":"Sun","sequence":"additional","affiliation":[{"name":"Institute of Molecular Medicine National Cheng Kung University Medical College Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.\u2010C.","family":"Lai","sequence":"additional","affiliation":[{"name":"Neuroscience Research Center Chang Gung Memorial Hospital Linkou Taiwan"},{"name":"Division of Movement Disorder Chang Gung Memorial Hospital Linkou Taiwan"},{"name":"Department of Neurology Chang Gung Memorial Hospital Linkou Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.\u2010S.","family":"Lu","sequence":"additional","affiliation":[{"name":"Neuroscience Research Center Chang Gung Memorial Hospital Linkou Taiwan"},{"name":"Division of Movement Disorder Chang Gung Memorial Hospital Linkou Taiwan"},{"name":"Department of Neurology Chang Gung Memorial Hospital Linkou Taiwan"},{"name":"Healthy Aging Research Center and College of Medicine Chang Gung University Linkou Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,3,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0031-1299787"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R109.042168"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp073"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-008-0158-9"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.10.009"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01624.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yfrne.2008.11.002"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00041433-199804000-00006"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fene.12407","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.12407","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T22:44:11Z","timestamp":1695509051000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.12407"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,18]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["10.1111\/ene.12407"],"URL":"https:\/\/doi.org\/10.1111\/ene.12407","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,18]]},"assertion":[{"value":"2013-10-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2014-02-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2014-03-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}