{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:43:45Z","timestamp":1761007425036,"version":"build-2065373602"},"reference-count":42,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,7,2]],"date-time":"2023-07-02T00:00:00Z","timestamp":1688256000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82025012","U1905210"],"award-info":[{"award-number":["82025012","U1905210"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To diagnose the molecular cause of hereditary spastic paraplegia (HSP) observed in a four\u2010generation family with autosomal dominant inheritance.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Multiplex ligation\u2010dependent probe amplification (MLPA), whole\u2010exome sequencing (WES), and RNA sequencing (RNA\u2010seq) of peripheral blood leukocytes were performed. Reverse transcription polymerase chain reaction (RT\u2010PCR) and Sanger sequencing were used to characterize target regions of <jats:italic>SPAST<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 121\u2010bp AluYb9 insertion with a 30\u2010bp poly\u2010A tail flanked by 15\u2010bp direct repeats on both sides was identified in the edge of intron 16 in <jats:italic>SPAST<\/jats:italic> that segregated with the disease phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We identified an intronic AluYb9 insertion inducing splicing alteration in <jats:italic>SPAST<\/jats:italic> causing pure HSP phenotype that was not detected by routine WES analysis. Our findings suggest RNA\u2010seq is a recommended implementation for undiagnosed cases by first\u2010line diagnostic approaches. \u00a9 2023 International Parkinson and Movement Disorder Society.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.29522","type":"journal-article","created":{"date-parts":[[2023,7,3]],"date-time":"2023-07-03T01:05:15Z","timestamp":1688346315000},"page":"1750-1755","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Alu Retrotransposition Event in <scp><i>SPAST<\/i><\/scp> Gene as a Novel Cause of Hereditary Spastic Paraplegia"],"prefix":"10.1002","volume":"38","author":[{"given":"Yi\u2010Jun","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Neurology and Institute of Neurology The First Affiliated Hospital of Fujian Medical University  Fuzhou China"},{"name":"Department of Geriatrics The First Affiliated Hospital of Fujian Medical University  Fuzhou 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