{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T00:47:29Z","timestamp":1778546849236,"version":"3.51.4"},"reference-count":30,"publisher":"VM Media SP. zo.o VM Group SK","issue":"6","license":[{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurologia i Neurochirurgia Polska"],"published-print":{"date-parts":[[2017,11]]},"DOI":"10.1016\/j.pjnns.2017.06.012","type":"journal-article","created":{"date-parts":[[2017,7,8]],"date-time":"2017-07-08T16:15:44Z","timestamp":1499530544000},"page":"497-500","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"title":["Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review"],"prefix":"10.5603","volume":"51","author":[{"given":"Joyutpal","family":"Das","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Lilleker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannah","family":"Shereef","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Ealing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3595","reference":[{"key":"10.1016\/j.pjnns.2017.06.012_bib0155","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1152\/physrev.00035.2006","article-title":"Inositol trisphosphate receptor Ca2+ release channels","volume":"87","author":"Foskett","year":"2007","journal-title":"Physiol Rev"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0160","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/j.tins.2010.02.005","article-title":"Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling","volume":"33","author":"Schorge","year":"2010","journal-title":"Trends Neurosci"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0165","doi-asserted-by":"crossref","first-page":"3106","DOI":"10.1093\/brain\/awt236","article-title":"Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model","volume":"136","author":"N\u00e9meth","year":"2013","journal-title":"Brain"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0170","article-title":"Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia","author":"Barresi","year":"2016","journal-title":"Clin Genet"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0175","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1007\/s10048-013-0375-8","article-title":"Diagnostic utility of whole exome sequencing in patients showing cerebellar and\/or vermis atrophy in childhood","volume":"14","author":"Ohba","year":"2013","journal-title":"Neurogenetics"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0180","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.1007\/s00415-015-7705-8","article-title":"Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene","volume":"262","author":"Sasaki","year":"2015","journal-title":"J Neurol"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0185","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1001\/jamaneurol.2014.1944","article-title":"Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia","volume":"71","author":"Fogel","year":"2014","journal-title":"JAMA Neurol"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0190","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1186\/1750-1172-7-67","article-title":"Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia","volume":"7","author":"Huang","year":"2012","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0195","doi-asserted-by":"crossref","first-page":"1817","DOI":"10.1093\/brain\/awv117","article-title":"De novo point mutations in patients diagnosed with ataxic cerebral palsy","volume":"138","author":"Parolin Schnekenberg","year":"2015","journal-title":"Brain"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0200","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/s40673-016-0040-8","article-title":"ITPR1 gene p.Val1553Met mutation in Russian family with mild spinocerebellar ataxia","volume":"3","author":"Shadrina","year":"2016","journal-title":"Cerebellum Ataxias"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0205","doi-asserted-by":"crossref","first-page":"2288","DOI":"10.1212\/01.WNL.0000147299.80872.D1","article-title":"Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus","volume":"63","author":"Dudding","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0210","doi-asserted-by":"crossref","first-page":"1913","DOI":"10.1212\/WNL.57.10.1913","article-title":"A new autosomal dominant pure cerebellar ataxia","volume":"57","author":"Storey","year":"2001","journal-title":"Neurology"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0215","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/S0969-9961(03)00029-9","article-title":"Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant","volume":"13","author":"Knight","year":"2003","journal-title":"Neurobiol Dis"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0220","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1373\/clinchem.2009.124958","article-title":"Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15","volume":"55","author":"Ganesamoorthy","year":"2009","journal-title":"Clin Chem"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0225","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1212\/01.wnl.0000311277.71046.a0","article-title":"Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families","volume":"71","author":"Hara","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0230","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1212\/01.WNL.0000110190.08412.25","article-title":"Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus","volume":"62","author":"Hara","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0235","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1002\/mds.22970","article-title":"Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series","volume":"25","author":"van de Leemput","year":"2010","journal-title":"Mov Disord"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0240","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1136\/jmg.2007.053942","article-title":"Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16","volume":"45","author":"Iwaki","year":"2008","journal-title":"J Med Genet"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0245","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1038\/jhg.2012.5","article-title":"Prevalence of inositol 1,4,5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage","volume":"57","author":"Obayashi","year":"2012","journal-title":"J Hum Genet"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0250","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1001\/archneurol.2011.81","article-title":"SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia","volume":"68","author":"Marelli","year":"2011","journal-title":"Arch Neurol"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0255","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1111\/j.1468-1331.2011.03366.x","article-title":"A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline","volume":"18","author":"Castrioto","year":"2011","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0260","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1136\/jmg.2010.087023","article-title":"Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features","volume":"48","author":"Synofzik","year":"2011","journal-title":"J Med Genet"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0265","doi-asserted-by":"crossref","first-page":"2176","DOI":"10.1002\/mds.23223","article-title":"An ITPR1 gene deletion causes spinocerebellar ataxia 15\/16: a genetic, clinical and radiological description","volume":"25","author":"Novak","year":"2010","journal-title":"Mov Disord"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0270","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/s12311-009-0154-0","article-title":"Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15","volume":"9","author":"Di Gregorio","year":"2010","journal-title":"Cerebellum"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0275","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1002\/mds.25433","article-title":"Levetiracetam-responsive myoclonus in spinocerebellar ataxia type 15","volume":"28","author":"Orsucci","year":"2013","journal-title":"Mov Disord"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0280","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1016\/j.bbrc.2011.06.043","article-title":"Functional characterization of the P1059L mutation in the inositol 1,4,5-trisphosphate receptor type 1 identified in a Japanese SCA15 family","volume":"410","author":"Yamazaki","year":"2011","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0285","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/j.ajhg.2016.03.004","article-title":"Recessive and dominant de novo ITPR1 mutations cause gillespie syndrome","volume":"98","author":"Gerber","year":"2016","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0290","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1016\/j.ajhg.2016.03.018","article-title":"A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect","volume":"98","author":"McEntagart","year":"2016","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0295","doi-asserted-by":"crossref","first-page":"67","DOI":"10.3389\/fped.2015.00067","article-title":"Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric center's experience","volume":"3","author":"Valencia","year":"2015","journal-title":"Front Pediatr"},{"key":"10.1016\/j.pjnns.2017.06.012_bib0300","article-title":"A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: expanding the phenotype of ITPR1-related spinocerebellar ataxia's","author":"van Dijk","year":"2016","journal-title":"Am J Med Genet A"}],"container-title":["Neurologia i Neurochirurgia Polska"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0028384317300099?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0028384317300099?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,8]],"date-time":"2019-01-08T05:45:31Z","timestamp":1546926331000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0028384317300099"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11]]},"references-count":30,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["S0028384317300099"],"URL":"https:\/\/doi.org\/10.1016\/j.pjnns.2017.06.012","relation":{},"ISSN":["0028-3843"],"issn-type":[{"value":"0028-3843","type":"print"}],"subject":[],"published":{"date-parts":[[2017,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review","name":"articletitle","label":"Article Title"},{"value":"Neurologia i Neurochirurgia Polska","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.pjnns.2017.06.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Published by Elsevier Sp. z o.o. on behalf of Polish Neurological Society.","name":"copyright","label":"Copyright"}]}}