{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T14:51:34Z","timestamp":1790175094687,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2017,10,14]],"date-time":"2017-10-14T00:00:00Z","timestamp":1507939200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal recessive <jats:italic>KIF1A<\/jats:italic> missense mutations cause hereditary spastic paraplegia (HSP) type SPG30, while recessive truncations lead to sensory and autonomic neuropathy (HSN2C) and many de novo missense mutations are associated with cognitive impairment. Here, we describe family members across three generations with pure HSP. A heterozygous p.Ser69Leu <jats:italic>KIF1A<\/jats:italic> mutation segregates with those afflicted. The same variant was previously reported in a Finnish father and son with pure HSP as well as four members of a Sicilian kindred with more intrafamilial phenotypic variability. This further validates the pathogenicity of the p.Ser69Leu mutation and suggests that it may represent a mutation hot spot.<\/jats:p>","DOI":"10.1002\/acn3.452","type":"journal-article","created":{"date-parts":[[2017,10,15]],"date-time":"2017-10-15T04:06:38Z","timestamp":1508040398000},"page":"821-824","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Multigeneration family with dominant SPG30 hereditary spastic paraplegia"],"prefix":"10.1002","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3255-7749","authenticated-orcid":false,"given":"Ricardo H.","family":"Roda","sequence":"first","affiliation":[{"name":"Department of Neurology Neuromuscular Medicine Johns Hopkins University School of Medicine Baltimore Maryland"},{"name":"Neurogenetics Branch National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice B.","family":"Schindler","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig","family":"Blackstone","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,10,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2015.02.016"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2011.12.020"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22709"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.108"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.80"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.06.013"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl012"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-016-0803-z"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-neuro-062111-150400"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.261"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.297"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7899-9"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0174667"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.404"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073816639718"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Facn3.452","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.452","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T21:08:44Z","timestamp":1695762524000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.452"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,14]]},"references-count":16,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["10.1002\/acn3.452"],"URL":"https:\/\/doi.org\/10.1002\/acn3.452","archive":["Portico"],"relation":{},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,10,14]]},"assertion":[{"value":"2017-07-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-08-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-10-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}