{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T20:47:30Z","timestamp":1767905250773,"version":"3.49.0"},"reference-count":38,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,8,3]],"date-time":"2020-08-03T00:00:00Z","timestamp":1596412800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,8,3]],"date-time":"2020-08-03T00:00:00Z","timestamp":1596412800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>Spastic paraplegia type 30 (SPG30) caused by <jats:italic>KIF1A<\/jats:italic> mutations was first reported in 2011 and was initially considered a very rare autosomal recessive (AR) form. In the last years, thanks to the development of massive parallel sequencing, SPG30 proved to be a rather common autosomal dominant (AD) form of familial or sporadic spastic paraplegia (SPG),, with a wide range of phenotypes: pure and complicated. The aim of our study is to detect AD SPG30 cases and to examine their molecular and clinical characteristics for the first time in the Russian population.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Methods<\/jats:title>\n<jats:p>Clinical, genealogical and molecular methods were used. Molecular methods included massive parallel sequencing (MPS) of custom panel \u2018spastic paraplegias\u2019 with 62 target genes complemented by familial Sanger sequencing. One case was detected by the whole -exome sequencing.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>AD SPG30 was detected in 10 unrelated families, making it the 3rd (8.4%) most common SPG form in the cohort of 118 families. No AR SPG30 cases were detected. In total, 9 heterozygous <jats:italic>KIF1A<\/jats:italic> mutations were detected, with 4 novel and 5 known mutations. All the mutations were located within <jats:italic>KIF1A<\/jats:italic> motor domain. Six cases had pure phenotypes, of which 5 were familial, where 2 familial cases demonstrated incomplete penetrance, early onset and slow relatively benign SPG course. All 4 complicated cases were caused by novel mutations without familial history. The phenotypes varied from severe in two patients (e.g. lack of walking, pronounced mental retardation) to relatively mild non-disabling symptoms in two others.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>AD SPG30 is one of the most common forms of SPG in Russia, the disorder has pronounced clinical variability while pure familial cases represent a significant part.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s12883-020-01872-4","type":"journal-article","created":{"date-parts":[[2020,8,3]],"date-time":"2020-08-03T15:10:44Z","timestamp":1596467444000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families"],"prefix":"10.1186","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8244-9367","authenticated-orcid":false,"given":"G. E.","family":"Rudenskaya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1245-4881","authenticated-orcid":false,"given":"V. A.","family":"Kadnikova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1285-9093","authenticated-orcid":false,"given":"O. P.","family":"Ryzhkova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. A.","family":"Bessonova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5602-2805","authenticated-orcid":false,"given":"E. L.","family":"Dadali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3761-8595","authenticated-orcid":false,"given":"D. S.","family":"Guseva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2672-6294","authenticated-orcid":false,"given":"T. V.","family":"Markova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. N.","family":"Khmelkova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4905-1303","authenticated-orcid":false,"given":"A. V.","family":"Polyakov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,8,3]]},"reference":[{"key":"1872_CR1","doi-asserted-by":"publisher","first-page":"419","DOI":"10.3389\/fncel.2019.00419","volume":"13","author":"DR Gabrych","year":"2019","unstructured":"Gabrych DR, Lau VZ, Niwa S, Silverman MA. Going too far is the same as falling short: kinesin-3 family members in hereditary spastic paraplegia. Front Cell Neurosci. 2019;13:419. https:\/\/doi.org\/10.3389\/fncel.2019.00419.","journal-title":"Front Cell Neurosci"},{"key":"1872_CR2","doi-asserted-by":"publisher","first-page":"1456","DOI":"10.1093\/brain\/awl012","volume":"129","author":"S Klebe","year":"2006","unstructured":"Klebe S, Azzedine H, Durr A, Bastien P, Bouslam N, Elleuch N, Forlani S, Charon C, Koenig M, Melki J, et al. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain. 2006;129:1456\u201362. https:\/\/doi.org\/10.1093\/brain\/awl012.","journal-title":"Brain."},{"issue":"5","key":"1872_CR3","doi-asserted-by":"publisher","first-page":"658","DOI":"10.1101\/gr.117143.110","volume":"21","author":"Y Erlich","year":"2011","unstructured":"Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res. 2011;21(5):658\u201364. https:\/\/doi.org\/10.1101\/gr.117143.110.","journal-title":"Genome Res"},{"issue":"6","key":"1872_CR4","doi-asserted-by":"publisher","first-page":"645","DOI":"10.1038\/ejhg.2011.261","volume":"20","author":"S Klebe","year":"2012","unstructured":"Klebe S, Lossos A, Azzedine H, Mundwiller E, Sheffer R, Gaussen M, Marelli C, Nawara M, Carpentier W, Meyer V, et al. KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. Eur J Hum Genet. 2012;20(6):645\u20139. https:\/\/doi.org\/10.1038\/ejhg.2011.261.","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"1872_CR5","doi-asserted-by":"publisher","first-page":"741","DOI":"10.1111\/ene.13279","volume":"24","author":"M Krenn","year":"2017","unstructured":"Krenn M, Zulehner G, Hotzy C, Rath J, Stogmann E, Wagner M, Haack TB, Strom TM, Zimprich A, Zimprich F. Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene. Eur J Neurol. 2017;24(5):741\u20137. https:\/\/doi.org\/10.1111\/ene.13279.","journal-title":"Eur J Neurol"},{"issue":"3","key":"1872_CR6","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1016\/j.ajhg.2011.02.001","volume":"88","author":"FF Hamdan","year":"2011","unstructured":"Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet. 2011;88(3):306\u201316. https:\/\/doi.org\/10.1016\/j.ajhg.2011.02.001.","journal-title":"Am J Hum Genet"},{"issue":"6","key":"1872_CR7","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1002\/acn3.198","volume":"2","author":"S Esmaeeli Nieh","year":"2015","unstructured":"Esmaeeli Nieh S, Madou MR, Sirajuddin M, Fregeau B, McKnight D, Lexa K, Strober J, Spaeth C, Hallinan BE, Smaoui N. De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. Ann Clin Transl Neurol. 2015;2(6):623\u201335. https:\/\/doi.org\/10.1002\/acn3.198.","journal-title":"Ann Clin Transl Neurol"},{"issue":"1","key":"1872_CR8","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1002\/humu.22709","volume":"36","author":"JR Lee","year":"2015","unstructured":"Lee JR, Srour M, Kim D, Hamdan FF, Lim SH, Brunel-Guitton C, D\u00e9carie JC, Rossignol E, Mitchell GA, Schreiber A, et al. De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. Hum Mutat. 2015;36(1):69\u201378. https:\/\/doi.org\/10.1002\/humu.22709.","journal-title":"Hum Mutat"},{"issue":"12","key":"1872_CR9","doi-asserted-by":"publisher","first-page":"739","DOI":"10.1038\/jhg.2015.108","volume":"60","author":"C Ohba","year":"2015","unstructured":"Ohba C, Haginoya K, Osaka H, Kubota K, Ishiyama A, Hiraide T, Komaki H, Sasaki M, Miyatake S, Nakashima M, et al. De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance. J Hum Genet. 2015;60(12):739\u201342. https:\/\/doi.org\/10.1038\/jhg.2015.108.","journal-title":"J Hum Genet"},{"issue":"12","key":"1872_CR10","doi-asserted-by":"publisher","first-page":"2684","DOI":"10.1007\/s00415-015-7899-9","volume":"262","author":"A Citterio","year":"2015","unstructured":"Citterio A, Arnoldi A, Panzeri E, Merlini L, D'Angelo MG, Musumeci O, Toscano A, Bondi A, Martinuzzi A, Bresolin N, Bassi MT. Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. J Neurol. 2015;262(12):2684\u201390. https:\/\/doi.org\/10.1007\/s00415-015-7899-9.","journal-title":"J Neurol"},{"issue":"9","key":"1872_CR11","doi-asserted-by":"publisher","first-page":"1114","DOI":"10.1177\/0883073816639718","volume":"31","author":"L Hotchkiss","year":"2016","unstructured":"Hotchkiss L, Donkervoort S, Leach ME, Mohassel P, Bharucha-Goebel DX, Bradley N, Nguyen D, Hu Y, Gurgel-Giannetti J, B\u00f6nnemann CG. Novel de novo mutations in KIF1A as a cause of hereditary spastic paraplegia with progressive central nervous system involvement. J Child Neurol. 2016;31(9):1114\u20139. https:\/\/doi.org\/10.1177\/0883073816639718.","journal-title":"J Child Neurol"},{"issue":"1","key":"1872_CR12","doi-asserted-by":"publisher","first-page":"12527","DOI":"10.1038\/s41598-017-12999-9","volume":"7","author":"CK Cheon","year":"2017","unstructured":"Cheon CK, Lim SH, Kim YM, Kim D, Lee NY, Yoon TS, Kim NS, Kim E, Lee JR. Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene. Sci Rep. 2017;7(1):12527. https:\/\/doi.org\/10.1038\/s41598-017-12999-9.","journal-title":"Sci Rep"},{"issue":"10","key":"1872_CR13","doi-asserted-by":"publisher","first-page":"1427","DOI":"10.1038\/ejhg.2014.297","volume":"23","author":"E Ylikallio","year":"2015","unstructured":"Ylikallio E, Kim D, Isohanni P, Auranen M, Kim E, L\u00f6nnqvist T, Tyynismaa H. Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. Eur J Hum Genet. 2015;23(10):1427\u201330. https:\/\/doi.org\/10.1038\/ejhg.2014.297.","journal-title":"Eur J Hum Genet"},{"issue":"3","key":"1872_CR14","doi-asserted-by":"publisher","first-page":"e0174667","DOI":"10.1371\/journal.pone.0174667","volume":"12","author":"Z Iqbal","year":"2017","unstructured":"Iqbal Z, Rydning SL, Wedding IM, Koht J, Pihlstr\u00f8m L, Rengmark AH, Henriksen SP, Tallaksen CM, Toft M. Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. PLoS One. 2017;12(3):e0174667. https:\/\/doi.org\/10.1371\/journal.pone.0174667.","journal-title":"PLoS One"},{"key":"1872_CR15","doi-asserted-by":"publisher","first-page":"981","DOI":"10.3389\/fneur.2018.00981","volume":"9","author":"A D'Amore","year":"2018","unstructured":"D'Amore A, Tessa A, Casali C, Dotti MT, Filla A, Silvestri G, Antenora A, Astrea G, Barghigiani M, Battini R, et al. Next generation molecular diagnosis of hereditary spastic paraplegias: an Italian cross-sectional study. Front Neurol. 2018;9:981. https:\/\/doi.org\/10.3389\/fneur.2018.00981 eCollection 2018.","journal-title":"Front Neurol"},{"issue":"1","key":"1872_CR16","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1038\/s41431-019-0497-z","volume":"28","author":"M Pennings","year":"2020","unstructured":"Pennings M, Schouten MI, van Gaalen J, Meijer RPP, de Bot ST, Kriek M, Saris CGJ, van den Berg LH, van Es MA, Zuidgeest DMH, et al. KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia. Eur J Hum Genet. 2020;28(1):40\u20139. https:\/\/doi.org\/10.1038\/s41431-019-0497-z.","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"1872_CR17","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405\u201324. https:\/\/doi.org\/10.1038\/gim.2015.30.","journal-title":"Genet Med"},{"issue":"8","key":"1872_CR18","doi-asserted-by":"publisher","first-page":"3","DOI":"10.25557\/2073-7998.2019.02.3-23","volume":"18","author":"OP Ryzhkova","year":"2019","unstructured":"Ryzhkova OP, Kardymon OL, Prohorchuk EB, Konovalov FA, Maslennikov AB, Stepanov VA, Afanasyev AA, Zaklyazminskaya EV, Rebrikov DV, Savostyanov KV, et al. Guidelines for the interpretation of data on human DNA sequencing obtained by methods of massive parallel sequencing (MPS) (Ed.2018, version 2). Med Genet. 2019;18(8):3\u201323. [In Russ]. https:\/\/doi.org\/10.25557\/2073-7998.2019.02.3-23.","journal-title":"Med Genet"},{"issue":"11","key":"1872_CR19","doi-asserted-by":"publisher","first-page":"821","DOI":"10.1002\/acn3.452","volume":"4","author":"RH Roda","year":"2017","unstructured":"Roda RH, Schindler AB, Blackstone C. Multigeneration family with dominant SPG30 hereditary spastic paraplegia. Ann Clin Transl Neurol. 2017;4(11):821\u20134. https:\/\/doi.org\/10.1002\/acn3.452.","journal-title":"Ann Clin Transl Neurol"},{"key":"1872_CR20","doi-asserted-by":"publisher","unstructured":"Nemani T, Steel D, Kaliakatsos M, DeVile C, Ververi A, Scott R, Getov S, Sudhakar S, Male A, Mankad K. Genomics England Research Consortium et al. KIF1A-related disorders in children: a wide spectrum of central and peripheral nervous system involvement. J Peripher Nerv Syst. 2020. https:\/\/doi.org\/10.1111\/jns.12368.","DOI":"10.1111\/jns.12368"},{"issue":"11","key":"1872_CR21","doi-asserted-by":"publisher","first-page":"1217","DOI":"10.1038\/ejhg.2017.124","volume":"25","author":"S Morais","year":"2017","unstructured":"Morais S, Raymond L, Mairey M, Coutinho P, Brand\u00e3o E, Ribeiro P, Loureiro J, Sequeiros J, Brice A, Alonso I, Stevanin G. Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. Eur J Hum Genet. 2017;25(11):1217\u201328. https:\/\/doi.org\/10.1038\/ejhg.2017.124.","journal-title":"Eur J Hum Genet"},{"issue":"10","key":"1872_CR22","doi-asserted-by":"publisher","first-page":"1460","DOI":"10.1038\/ejhg.2016.42","volume":"4","author":"BP van de Warrenburg","year":"2016","unstructured":"van de Warrenburg BP, Schouten MI, de Bot ST, Vermeer S, Meijer R, Pennings M, Gilissen C, Willemsen MA, Scheffer H, Kamsteeg EJ. Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders. Eur J Hum Genet. 2016;4(10):1460\u20136. https:\/\/doi.org\/10.1038\/ejhg.2016.42.","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"1872_CR23","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1007\/s10048-019-00565-6","volume":"20","author":"E Elert-Dobkowska","year":"2019","unstructured":"Elert-Dobkowska E, Stepniak I, Krysa W, Ziora-Jakutowicz K, Rakowicz M, Sobanska A, Pilch J, Antczak-Marach D, Zaremba J, Sulek A. Next- generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes. Neurogenetics. 2019;20(1):27\u201338. https:\/\/doi.org\/10.1007\/s10048-019-00565-6.","journal-title":"Neurogenetics."},{"issue":"7","key":"1872_CR24","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1007\/s00109-018-1655-4","volume":"96","author":"C Lu","year":"2018","unstructured":"Lu C, Li LX, Dong HL, Wei Q, Liu ZJ, Ni W, Gitler AD, Wu ZY. Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients. J Mol Med (Berl). 2018;96(7):701\u201312. https:\/\/doi.org\/10.1007\/s00109-018-1655-4.","journal-title":"J Mol Med (Berl)"},{"issue":"2","key":"1872_CR25","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1055\/s-0039-3400988","volume":"51","author":"AE Van Beusichem","year":"2020","unstructured":"Van Beusichem AE, Nicolai J, Verhoeven J, Speth L, Coenen M, Willemsen MA, Kamsteeg EJ, Stumpel C, Vermeulen RJ. Mobility \u0441haracteristics of \u0441hildren with spastic paraplegia due to a mutation in the KIF1A gene. Neuropediatrics. 2020;51(2):146\u201353. https:\/\/doi.org\/10.1055\/s-0039-3400988.","journal-title":"Neuropediatrics."},{"issue":"4","key":"1872_CR26","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1111\/jns.12235","volume":"22","author":"PJ Tomaselli","year":"2017","unstructured":"Tomaselli PJ, Rossor AM, Horga A, Laura M, Blake JC, Houlden H, Reilly MM. A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. J Peripher Nerv Syst. 2017;22(4):460\u20133. https:\/\/doi.org\/10.1111\/jns.12235.","journal-title":"J Peripher Nerv Syst"},{"issue":"6","key":"1872_CR27","doi-asserted-by":"publisher","first-page":"839","DOI":"10.2169\/internalmedicine.3661-19","volume":"59","author":"M Kurihara","year":"2020","unstructured":"Kurihara M, Ishiura H, Bannai T, Mitsui J, Yoshimura J, Morishita S, Hayashi T, Shimizu J, Toda T, Tsuji S. A novel de novo KIF1A mutation in a patient with autism, hyperactivity, epilepsy, sensory disturbance, and spastic paraplegia. Intern Med. 2020;59(6):839\u201342. https:\/\/doi.org\/10.2169\/internalmedicine.3661-19.","journal-title":"Intern Med"},{"issue":"11","key":"1872_CR28","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1038\/jhg.2014.80","volume":"59","author":"N Okamoto","year":"2014","unstructured":"Okamoto N, Miya F, Tsunoda T, Yanagihara K, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. KIF1A mutation in patient with progressive neurodegeneration. J Hum Genet. 2014;59(11):639\u201341. https:\/\/doi.org\/10.1038\/jhg.2014.80.","journal-title":"J Hum Genet"},{"key":"1872_CR29","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1016\/j.ensci.2018.11.026","volume":"14","author":"K Yoshikawa","year":"2018","unstructured":"Yoshikawa K, Kuwahara M, Saigoh K, Ishiura H, Yamagishi Y, Hamano Y, Samukawa M, Suzuki H, Hirano M, Mitsui Y, et al. The novel de novo mutation of KIF1A gene as the cause for spastic paraplegia 30 in a Japanese case. Neurol Sci. 2018;14:34\u20137. https:\/\/doi.org\/10.1016\/j.ensci.2018.11.026.","journal-title":"Neurol Sci"},{"issue":"5","key":"1872_CR30","doi-asserted-by":"publisher","first-page":"e169","DOI":"10.1016\/j.jcjo.2017.02.021","volume":"52","author":"L Raffa","year":"2017","unstructured":"Raffa L, Matton MP, Michaud J, Rossignol E, Decarie JC, Ospina LH. Optic nerve hypoplasia in a patient with a de novo KIF1A heterozygous mutation. Can J Ophthalmol. 2017;52(5):e169\u201371. https:\/\/doi.org\/10.1016\/j.jcjo.2017.02.021.","journal-title":"Can J Ophthalmol"},{"issue":"1","key":"1872_CR31","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1186\/s13052-019-0752-5","volume":"45","author":"C Spagnoli","year":"2019","unstructured":"Spagnoli C, Rizzi S, Salerno GG, Frattini D, Fusco C. Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report. Ital J Pediatr. 2019;45(1):155. https:\/\/doi.org\/10.1186\/s13052-019-0752-5.","journal-title":"Ital J Pediatr"},{"key":"1872_CR32","doi-asserted-by":"publisher","unstructured":"Urtiaga Valle S, Fournier Gil B, Ramiro Le\u00f3n MS, Mart\u00ednez MB. Usefulness of exome sequencing in the study of spastic paraparesis and cerebellar atrophy: De novo mutation of the KIF1A gene, a new hope in prognosis. Neurologia. 2019;S0213-4853(18)30197-X. https:\/\/doi.org\/10.1016\/j.nrl.2018.07.001.","DOI":"10.1016\/j.nrl.2018.07.001"},{"key":"1872_CR33","doi-asserted-by":"publisher","first-page":"106181","DOI":"10.1016\/j.eplepsyres.2019.106181","volume":"156","author":"AM Muir","year":"2019","unstructured":"Muir AM, Myers CT, Nguyen NT, Saykally J, Craiu D, De Jonghe P, Helbig I, Hoffman-Zacharska D, Guerrini R, Lehesjoki AE, et al. Genetic heterogeneity in infantile spasms. Epilepsy Res. 2019;156:106181. https:\/\/doi.org\/10.1016\/j.eplepsyres.2019.106181.","journal-title":"Epilepsy Res"},{"issue":"6","key":"1872_CR34","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1038\/ejhg.2015.217","volume":"24","author":"S Langlois","year":"2016","unstructured":"Langlois S, Tarailo-Graovac M, Sayson B, Dr\u00f6gem\u00f6ller B, Swenerton A, Ross CJ, Wasserman WW, van Karnebeek CD. De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. Eur J Hum Genet. 2016;24(6):949\u201353. https:\/\/doi.org\/10.1038\/ejhg.2015.217.","journal-title":"Eur J Hum Genet"},{"key":"1872_CR35","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1016\/j.jocn.2018.10.091","volume":"61","author":"D Samanta","year":"2019","unstructured":"Samanta D, Gokden M. PEHO syndrome: KIF1A mutation and decreased activity of mitochondrial respiratory chain complex. J Clin Neurosci. 2019;61:298\u2013301. https:\/\/doi.org\/10.1016\/j.jocn.2018.10.091.","journal-title":"J Clin Neurosci"},{"issue":"11","key":"1872_CR36","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.968","volume":"7","author":"J Wang","year":"2019","unstructured":"Wang J, Zhang Q, Chen Y, Yu S, Wu X, Bao X. Rett and Rett-like syndrome: expanding the genetic spectrum to KIF1A and GRIN1 gene. Mol Genet Genomic Med. 2019;7(11):e968. https:\/\/doi.org\/10.1002\/mgg3.968.","journal-title":"Mol Genet Genomic Med"},{"key":"1872_CR37","doi-asserted-by":"publisher","first-page":"61","DOI":"10.3389\/fgene.2020.00061","volume":"11","author":"Y Guo","year":"2020","unstructured":"Guo Y, Chen Y, Yang M, Xu X, Lin Z, Ma J, Chen H, Hu Y, Ma Y, Wang X, Tian X. A rare KIF1A missense mutation enhances synaptic function and increases seizure activity. Front Genet. 2020;11:61. https:\/\/doi.org\/10.3389\/fgene.2020.00061.","journal-title":"Front Genet"},{"key":"1872_CR38","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1016\/j.ajhg.2011.06.013","volume":"89","author":"JB Rivi\u00e8re","year":"2011","unstructured":"Rivi\u00e8re JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, et al. KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet. 2011;89:219\u201330. https:\/\/doi.org\/10.1016\/j.ajhg.2011.06.013.","journal-title":"Am J Hum Genet"}],"container-title":["BMC Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-020-01872-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12883-020-01872-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-020-01872-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,2]],"date-time":"2021-08-02T23:20:14Z","timestamp":1627946414000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcneurol.biomedcentral.com\/articles\/10.1186\/s12883-020-01872-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,3]]},"references-count":38,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["1872"],"URL":"https:\/\/doi.org\/10.1186\/s12883-020-01872-4","relation":{},"ISSN":["1471-2377"],"issn-type":[{"value":"1471-2377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,3]]},"assertion":[{"value":"24 April 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 July 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 August 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"All the participants, including relatives involved in segregation studies, provided written informed consent. The study was approved by the local ethics committee of the Federal State Budgetary Institution \u201cResearch Centre for Medical Genetics\u201d (the approval number 2016\u20136\/7). Also written informed consent was obtained from a parent or guardian for participants under 16\u2009years old. All experiments were performed in accordance with the institutional guidelines.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"290"}}