{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T15:46:01Z","timestamp":1792597561728,"version":"4.5.0"},"reference-count":22,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T00:00:00Z","timestamp":1784937600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T00:00:00Z","timestamp":1784937600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["1U54NS148312"],"award-info":[{"award-number":["1U54NS148312"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["5K08NS123552"],"award-info":[{"award-number":["5K08NS123552"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017026","name":"Spastic Paraplegia Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017026","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":[[2026,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      <jats:italic>KIF1A<\/jats:italic>\n                      \u2010associated neurological disorder (KAND) encompasses a broad neurodevelopmental and neurodegenerative spectrum in which motor and movement disorders are common but incompletely defined.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To systematically characterize motor and movement disorder phenotypes in KAND.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      In this cross\u2010sectional study, 51 individuals with likely\u2010pathogenic or pathogenic\n                      <jats:italic>KIF1A<\/jats:italic>\n                      variants underwent standardized neurological assessment using the Spastic Paraplegia Rating Scale (SPRS), SPATAX disability scale, Gross Motor Function Classification System (GMFCS), and Modified Ashworth Scale.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A history of global developmental delay was present in 96.1% and neonatal or infantile hypotonia in 62.7%. Progressive spasticity occurred in 72.5%, predominantly affecting the lower extremities and correlated with age (\n                      <jats:italic>\u03b2<\/jats:italic>\n                      \u2009=\u20090.45, odds ratio [OR]\u2009=\u20091.56, 95% confidence intervals [95% CI] 1.09\u20132.25,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.016). Lower extremity weakness was nearly universal (88.2%) and inversely related with age (\n                      <jats:italic>\u03b2<\/jats:italic>\n                      \u2009=\u2009\u22120.08, OR\u2009=\u20090.93, 95% CI 0.86\u20130.99,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.032). Independent walking was achieved by 62.7% at a median age of 24\u2009months, but only 31.4% retained independent ambulation at last evaluation. Movement disorders included motor stereotypies (43.1%), ataxia (19.6%), action tremor (15.6%), and dystonia (3.9%). Cerebellar signs were present in 37.2%. The p.Glu253Lys variant was associated with the most severe phenotype.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>KAND encompasses a continuous spectrum of motor and movement disorders that integrates developmental and neurodegenerative features. These findings inform clinical management, genetic counseling, and the design of future clinical trials. \u00a9 2026 International Parkinson and Movement Disorder Society.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.70420","type":"journal-article","created":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T09:06:32Z","timestamp":1784970392000},"page":"2737-2744","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>\n                      <i>KIF1A<\/i>\n                    <\/scp>\n                    \u2010Associated Neurological Disorder (\n                    <scp>KAND<\/scp>\n                    ): Spectrum of Movement and Motor Disorders in a Cohort of 51 Patients"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-3387-7623","authenticated-orcid":false,"given":"Katerina","family":"Bernardi","sequence":"first","affiliation":[{"name":"Movement Disorders Program, Department of Neurology &amp; F.M. Kirby Neurobiology Center Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-9798-138X","authenticated-orcid":false,"given":"Giovana","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology &amp; F.M. Kirby Neurobiology Center Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"},{"name":"Child Neurology Unit, Department of Neurology University of Campinas (UNICAMP)  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-9751-4580","authenticated-orcid":false,"given":"Nicole","family":"Battaglia","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology &amp; F.M. Kirby Neurobiology Center Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Waxler","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2072-3436","authenticated-orcid":false,"given":"Amy","family":"Tam","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology &amp; F.M. Kirby Neurobiology Center Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-5277-5794","authenticated-orcid":false,"given":"Joshua","family":"Rong","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology &amp; F.M. Kirby Neurobiology Center Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-0031-2756","authenticated-orcid":false,"given":"Enrique Gonzalez","family":"Saez\u2010Diez","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology &amp; F.M. Kirby Neurobiology Center Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Candace","family":"Cameron","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-5887-4515","authenticated-orcid":false,"given":"Monica","family":"Ferrer\u2010Socorro","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology &amp; F.M. Kirby Neurobiology Center Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zainab","family":"Zaman","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology &amp; F.M. 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