{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T04:37:16Z","timestamp":1792643836788,"version":"4.5.0"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,3,6]],"date-time":"2020-03-06T00:00:00Z","timestamp":1583452800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>KIF1A<\/jats:italic>\u2010related disorders (KRD) were first described in 2011 and the phenotypic spectrum has subsequently expanded to encompass a range of central and peripheral nervous system involvement. Here we present a case series demonstrating the range of clinical, neurophysiological, and radiological features which may occur in childhood\u2010onset KRD. We report on all the children and young people seen at a single large tertiary centre. Data were collected through a retrospective case\u2010notes review. Twelve individuals from 10 families were identified. Eight different mutations were present, including four novel mutations. Two patients displayed a very severe phenotype including congenital contractures, severe spasticity and\/or dystonia, dysautonomia, severe sensorimotor polyneuropathy and optic atrophy, significant white matter changes on brain MRI, respiratory insufficiency, and complete lack of neurodevelopmental progress. The remaining 10 patients represented a spectrum of severity with common features including a movement disorder with spasticity and\/or dystonia, subtle features of dysautonomia, sensory axonal neuropathy, varying degrees of optic atrophy and of learning and\/or behavioural difficulties, and subtle or absent\u2014but sometimes progressive\u2014changes in white matter on MRI. Epilepsy was common among the more severely affected children. This case series demonstrates that KRD comprise a range of neurological disorders, with both the milder and the more severe forms combining central and peripheral (including autonomic) nervous system deficits.<\/jats:p>","DOI":"10.1111\/jns.12368","type":"journal-article","created":{"date-parts":[[2020,2,25]],"date-time":"2020-02-25T05:50:06Z","timestamp":1582609806000},"page":"117-124","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":59,"title":["<i>KIF1A<\/i>\u2010related disorders in children: A wide spectrum of central and peripheral nervous system involvement"],"prefix":"10.1111","volume":"25","author":[{"given":"Tarishi","family":"Nemani","sequence":"first","affiliation":[{"name":"Department of Paediatric Neurology Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0942-7943","authenticated-orcid":false,"given":"Dora","family":"Steel","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Great Ormond Street Hospital London UK"},{"name":"Department of Developmental Neurosciences UCL Great Ormond Street Institute of Child London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marios","family":"Kaliakatsos","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"DeVile","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athina","family":"Ververi","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Scott","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Spas","family":"Getov","sequence":"additional","affiliation":[{"name":"Department of Neurophysiology Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sniya","family":"Sudhakar","sequence":"additional","affiliation":[{"name":"Department of Radiology Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Male","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Great Ormond Street Hospital London 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A","family":"Kurian","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Great Ormond Street Hospital London UK"},{"name":"Department of Developmental Neurosciences UCL Great Ormond Street Institute of Child London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucinda","family":"Carr","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pinki","family":"Munot","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Great Ormond Street Hospital London 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National Genomics Research and Healthcare Knowledgebase v5 Genomics England. doi:https:\/\/doi.org\/10.6084\/m9.figshare.4530893.v5.2019."},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2018.10.091"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx1153"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13279"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12235"},{"key":"e_1_2_7_20_1","doi-asserted-by":"crossref","first-page":"e968","DOI":"10.1002\/mgg3.968","article-title":"Rett and Rett\u2010like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene","volume":"11","author":"Wang J","year":"2019","journal-title":"Mol Genet Genomic Med"},{"key":"e_1_2_7_21_1","unstructured":"Next Generation Sequencing Service Sheffield Children's NHS Foundation Trust UK.https:\/\/www.sheffieldchildrens.nhs.uk\/sdgs\/next\u2010generation\u2010sequencing\/. 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