{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T14:55:37Z","timestamp":1789829737999,"version":"4.0.1"},"reference-count":14,"publisher":"The Korean Movement Disorder Society","issue":"1","license":[{"start":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T00:00:00Z","timestamp":1698019200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["e-jmd.org"],"crossmark-restriction":true},"short-container-title":["JMD"],"published-print":{"date-parts":[[2024,1,31]]},"abstract":"<jats:p>Tubulin beta 4A class IVa (TUBB4A) spectrum disorders include autosomal dominant dystonia type 4 or hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC syndrome). However, in rare cases, only mild hypomyelination in the cortex with no basal ganglia atrophy may be observed. We report a case of a family with &lt;i&gt;TUBB4A&lt;\/i&gt; mutation and complicated hereditary spasticity paraplegia (HSP). We performed quadro whole-exome sequencing (WES) on the family to identify the causative gene of progressive spastic paraparesis with isolated hypomyelination leukodystrophy. We identified a novel &lt;i&gt;TUBB4A&lt;\/i&gt; p.F341L mutation, which was present in all three affected patients but absent in the unaffected father. The affected patients presented with adult-onset TUBB4A disorder, predominant spastic paraparesis with\/without ataxia, and brain hypomyelination with no cognitive impairment or extrapyramidal symptoms. In the literature, HSP is considered a TUBB4A spectrum disorder.<\/jats:p>","DOI":"10.14802\/jmd.23142","type":"journal-article","created":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T07:42:58Z","timestamp":1698046978000},"page":"94-98","update-policy":"https:\/\/doi.org\/10.14802\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A New Phenotype of TUBB4A Mutation in a Family With Adult-Onset Progressive Spastic Paraplegia and Isolated Hypomyelination Leukodystrophy: A Case Report and Literature Review"],"prefix":"10.14802","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5258-5950","authenticated-orcid":true,"given":"Pei\u2010Chen","family":"Hsieh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5009-3522","authenticated-orcid":true,"given":"Pei Shan","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0633-3933","authenticated-orcid":true,"given":"Wen-Lang","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0177-6663","authenticated-orcid":true,"given":"Chun\u2010Chieh","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2655-5237","authenticated-orcid":true,"given":"Chih-Ying","family":"Chao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1191-2542","authenticated-orcid":true,"given":"Yih\u2010Ru","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"5803","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-016-8020-8"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx338"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-014-0392-2"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26196"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/elps.1150181505"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1042\/bst0240274"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/s41592-022-01488-1"},{"key":"ref8","first-page":"60","volume-title":"DynaMut2: assessing changes in stability and flexibility upon single and multiple point missense mutations","author":"Rodrigues","year":"2021"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.07.012"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.03.018"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu242"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2017.35"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14646"}],"container-title":["Journal of Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/e-jmd.org\/upload\/pdf\/jmd-23142.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/e-jmd.org\/journal\/view.php?doi=10.14802\/jmd.23142","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/e-jmd.org\/upload\/pdf\/jmd-23142.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T00:18:31Z","timestamp":1706487511000},"score":1,"resource":{"primary":{"URL":"http:\/\/e-jmd.org\/journal\/view.php?doi=10.14802\/jmd.23142"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,31]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"URL":"https:\/\/doi.org\/10.14802\/jmd.23142","relation":{},"ISSN":["2005-940X","2093-4939"],"issn-type":[{"value":"2005-940X","type":"print"},{"value":"2093-4939","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,31]]},"assertion":[{"value":"2023-07-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-23","order":2,"name":"published","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-31","order":3,"name":"published","label":"Print publication","group":{"name":"publication_history","label":"Publication History"}}]}}