{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T20:33:45Z","timestamp":1786739625903,"version":"build-2736575974"},"reference-count":22,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","license":[{"start":{"date-parts":[[2025,6,11]],"date-time":"2025-06-11T00:00:00Z","timestamp":1749600000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Hereditary spastic paraplegia (HSP) type 10 (SPG10) is an autosomal-dominantly inherited disease caused by pathogenic variants in\n                      <jats:italic toggle=\"yes\">KIF5A<\/jats:italic>\n                      , presenting as either pure or complex HSP.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>\n                      This study aims to investigate the clinical and genetic features of\n                      <jats:italic toggle=\"yes\">KIF5A<\/jats:italic>\n                      variants in a Taiwanese cohort diagnosed with HSP.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>\n                      We analyzed\n                      <jats:italic toggle=\"yes\">KIF5A<\/jats:italic>\n                      coding regions in 219 unrelated Taiwanese patients clinically diagnosed with HSP using a targeted resequencing panel. Clinical, electrophysiological, and neuroimaging features of patients with SPG10 were characterized.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Only one (0.5%) patient carried a heterozygous\n                      <jats:italic toggle=\"yes\">KIF5A<\/jats:italic>\n                      variant, c.838C&gt;T (p.Arg280Cys). This patient had a complex HSP phenotype with sensorimotor polyneuropathy, neuropathic pain, appendicular ataxia, and late disease onset at 39 years. Three family members also carried the variant, with one presented with HSP and two with axonal polyneuropathy, diagnosed as axonal Charcot-Marie-Tooth disease (CMT2).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>SPG10 is a rare HSP subtype in the Taiwanese population. This is the first report of SPG10 in Taiwan, highlighting the coexistence of SPG10 and CMT2 within a single family and the significant intra-familial phenotypic variation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/ant.ant-d-25-00042","type":"journal-article","created":{"date-parts":[[2025,6,16]],"date-time":"2025-06-16T03:00:08Z","timestamp":1750042808000},"page":"30-35","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Intrafamilial Phenotypic Variation in Taiwanese Patients with Hereditary Spastic Paraplegia and Charcot-Marie-Tooth Disease Due to KIF5A Mutations: A Cross-Sectional Observational Study"],"prefix":"10.4103","volume":"35","author":[{"given":"Po-Yu","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan"},{"name":"Department of Genomic Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng-Tsung","family":"Hsiao","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan"},{"name":"Department of Neurology, National Yang Ming Chao Tung University School of Medicine, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han-Wei","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Jen","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan"},{"name":"Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ssu-Ju","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Chung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan"},{"name":"Department of Neurology, National Yang Ming Chao Tung University School of Medicine, Taipei, Taiwan"},{"name":"Brain Research Center, National Yang Ming Chao Tung University School of Medicine, Taipei, Taiwan"},{"name":"Center for Intelligent Drug Systems and Smart Bio-Devices, National Yang Ming Chiao Tung University, Hsinchu, 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