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Other pathogenic mutations in the KIF5A gene are associated with hereditary spastic paraplegia type 10, Charcot-Marie-Tooth disease type 2 and amyotrophic lateral sclerosis. We discuss the clinical, genetic and prognostic implications of this finding.<\/jats:p>","DOI":"10.1136\/bcr-2025-267762","type":"journal-article","created":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T16:20:15Z","timestamp":1770049215000},"page":"e267762","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Novel KIF5A variant in a patient with early-onset levodopa-responsive Parkinson\u2019s syndrome"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-1345-9536","authenticated-orcid":false,"given":"Boyana R","family":"Kuzmanova","sequence":"first","affiliation":[{"name":"Neurology, Hirslanden Hospital Group, Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria R","family":"Kuzmanova","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University Hospital Zurich, Z\u00fcrich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magdeldin","family":"Elgizouli","sequence":"additional","affiliation":[{"name":"University of Zurich Institute of Medical Genetics, Schwerzenbach, Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin","family":"Tatrai","sequence":"additional","affiliation":[{"name":"University of Zurich Institute of Medical Genetics, Schwerzenbach, Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J Carsten","family":"M\u00f6ller","sequence":"additional","affiliation":[{"name":"H\u00f4pital Fribourgeois Site de Meyriez-Murten, Murten, Fribourg, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2026,2,2]]},"reference":[{"key":"2026020208200861000_19.2.e267762.1","unstructured":"Hereditary spastic paraplegia 10 (SPG10). 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