{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:42:48Z","timestamp":1760146968321},"reference-count":42,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[2012,1]]},"DOI":"10.1016\/j.jpeds.2011.06.029","type":"journal-article","created":{"date-parts":[[2011,8,16]],"date-time":"2011-08-16T17:46:18Z","timestamp":1313516778000},"page":"152-157","source":"Crossref","is-referenced-by-count":8,"title":["Clinical Clues to Differentiating Inherited and Noninherited Etiologies of Childhood Ataxias"],"prefix":"10.1016","volume":"160","author":[{"given":"Ruba","family":"Benini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ibtihel M.","family":"Ben Amor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael I.","family":"Shevell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpeds.2011.06.029_bib1","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1080\/14734220601187741","article-title":"Mechanisms of cerebellar gait ataxia","volume":"6","author":"Morton","year":"2007","journal-title":"Cerebellum"},{"key":"10.1016\/j.jpeds.2011.06.029_bib2","series-title":"Clinical Pediatric Neurology: A Signs and Symptoms Approach","first-page":"219","article-title":"Ataxia","author":"Fenichel","year":"2005"},{"key":"10.1016\/j.jpeds.2011.06.029_bib3","series-title":"Neurology in Clinical Practice","first-page":"285","article-title":"Ataxic disorders","author":"Subramony","year":"2008"},{"key":"10.1016\/j.jpeds.2011.06.029_bib4","series-title":"Pediatric Neurology: Principles and Practice","first-page":"1239","article-title":"Cerebellar Disorders and Ataxia in Childhood","author":"Swaiman","year":"2006"},{"key":"10.1016\/j.jpeds.2011.06.029_bib5","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1177\/0883073807302600","article-title":"Lamotrigine overdose in a child","volume":"22","author":"Daana","year":"2007","journal-title":"J Child Neurol"},{"key":"10.1016\/j.jpeds.2011.06.029_bib6","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1148\/radiographics.12.6.1439013","article-title":"MR imaging of posterior fossa infarctions: vascular territories and clinical correlates","volume":"12","author":"Cormier","year":"1992","journal-title":"Radiographics"},{"key":"10.1016\/j.jpeds.2011.06.029_bib7","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1177\/08830738030180050901","article-title":"Acute ataxia in childhood","volume":"18","author":"Ryan","year":"2003","journal-title":"J Child Neurol"},{"key":"10.1016\/j.jpeds.2011.06.029_bib8","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1097\/00006565-199410000-00004","article-title":"Pediatric carbamazepine overdoses","volume":"10","author":"Bridge","year":"1994","journal-title":"Pediatr Emerg Care"},{"key":"10.1016\/j.jpeds.2011.06.029_bib9","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1136\/emj.2009.079376","article-title":"Acute cerebellar ataxia in childhood: initial approach in the emergency department","volume":"27","author":"Salas","year":"2010","journal-title":"Emerg Med J"},{"key":"10.1016\/j.jpeds.2011.06.029_bib10","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1212\/WNL.56.10.1308","article-title":"Clinical and neuroradiologic features of acute disseminated encephalomyelitis in children","volume":"56","author":"Hynson","year":"2001","journal-title":"Neurology"},{"key":"10.1016\/j.jpeds.2011.06.029_bib11","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1177\/088307389400900408","article-title":"Acute childhood ataxia: 10-year experience","volume":"9","author":"Gieron-Korthals","year":"1994","journal-title":"J Child Neurol"},{"key":"10.1016\/j.jpeds.2011.06.029_bib12","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/S0736-4679(02)00746-1","article-title":"Acute cerebellar ataxia in a toddler: case report and literature review","volume":"24","author":"Davis","year":"2003","journal-title":"J Emerg Med"},{"key":"10.1016\/j.jpeds.2011.06.029_bib13","first-page":"1420","article-title":"Ataxia","volume":"29","author":"Brunberg","year":"2008","journal-title":"AJNR Am J Neuroradiol"},{"key":"10.1016\/j.jpeds.2011.06.029_bib14","doi-asserted-by":"crossref","first-page":"1478","DOI":"10.1007\/s00330-004-2247-y","article-title":"MRI findings in acute cerebellitis","volume":"14","author":"De Bruecker","year":"2004","journal-title":"Eur Radiol"},{"key":"10.1016\/j.jpeds.2011.06.029_bib15","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1038\/nrn1474","article-title":"Pathways to motor incoordination: the inherited ataxias","volume":"5","author":"Taroni","year":"2004","journal-title":"Nat Rev Neurosci"},{"key":"10.1016\/j.jpeds.2011.06.029_bib16","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1750-1172-1-47","article-title":"Autosomal recessive cerebellar ataxias","volume":"1","author":"Palau","year":"2006","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jpeds.2011.06.029_bib17","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/S1474-4422(07)70054-6","article-title":"Clinical features and molecular genetics of autosomal recessive cerebellar ataxias","volume":"6","author":"Fogel","year":"2007","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.jpeds.2011.06.029_bib18","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/S1474-4422(04)00737-9","article-title":"Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis","volume":"3","author":"Schols","year":"2004","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.jpeds.2011.06.029_bib19","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1017\/S0317167100007733","article-title":"Ataxias with autosomal, X-chromosomal or maternal inheritance","volume":"36","author":"Finsterer","year":"2009","journal-title":"Can J Neurol Sci"},{"key":"10.1016\/j.jpeds.2011.06.029_bib20","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1007\/s12311-009-0142-4","article-title":"Cerebellar disorders at the crossroad of molecular pathways and diagnosis","volume":"8","author":"Manto","year":"2009","journal-title":"Cerebellum"},{"key":"10.1016\/j.jpeds.2011.06.029_bib21","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/S1474-4422(02)00234-X","article-title":"Yet another spinocerebellar ataxia will it ever end?","volume":"1","author":"Paulson","year":"2002","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.jpeds.2011.06.029_bib22","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/S1090-3798(03)00105-3","article-title":"Hereditary ataxias and paediatric neurology: new movers and shakers enter the field","volume":"7","author":"Morrison","year":"2003","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.jpeds.2011.06.029_bib23","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1046\/j.1440-1754.2000.00534.x","article-title":"Ataxia with isolated vitamin E deficiency: a clinical, biochemical and genetic diagnosis","volume":"36","author":"Alex","year":"2000","journal-title":"J Paediatr Child Health"},{"key":"10.1016\/j.jpeds.2011.06.029_bib24","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.1212\/01.WNL.0000055872.50364.FC","article-title":"Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial","volume":"60","author":"Mariotti","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.jpeds.2011.06.029_bib25","doi-asserted-by":"crossref","first-page":"2327","DOI":"10.1517\/14656566.9.13.2327","article-title":"Idebenone in Friedreich\u2019s ataxia","volume":"9","author":"Tonon","year":"2008","journal-title":"Expert Opin Pharmacother"},{"key":"10.1016\/j.jpeds.2011.06.029_bib26","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/1750-1172-3-19","article-title":"Abetalipoproteinemia: two case reports and literature review","volume":"3","author":"Zamel","year":"2008","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jpeds.2011.06.029_bib27","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1023\/A:1014593404915","article-title":"Genetic counseling and screening of consanguineous couples and their offspring: recommendations of the National Society of Genetic Counselors","volume":"11","author":"Bennett","year":"2002","journal-title":"J Genet Couns"},{"key":"10.1016\/j.jpeds.2011.06.029_bib28","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/S1071-9091(03)00031-7","article-title":"Genetic testing in inherited ataxias","volume":"10","author":"Nance","year":"2003","journal-title":"Semin Pediatr Neurol"},{"key":"10.1016\/j.jpeds.2011.06.029_bib29","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1053\/ejpn.1999.0254","article-title":"The spinocerebellar ataxias: molecular progress and newly recognized paediatric phenotypes","volume":"4","author":"Morrison","year":"2000","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.jpeds.2011.06.029_bib30","unstructured":"Bird T. Hereditary ataxia overview. In: Washington U, editor. GeneReviews. www.ncbinlb.nih.gov\/books\/NBK1138. Accessed April 15, 2011."},{"key":"10.1016\/j.jpeds.2011.06.029_bib31","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1086\/503875","article-title":"Quantification of homozygosity in consanguineous individuals with autosomal recessive disease","volume":"78","author":"Woods","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpeds.2011.06.029_bib32","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1159\/000109774","article-title":"Friedreich\u2019s ataxia: an epidemiological study in Valencia, Spain, based on consanguinity analysis","volume":"14","author":"Lopez-Arlandis","year":"1995","journal-title":"Neuroepidemiology"},{"key":"10.1016\/j.jpeds.2011.06.029_bib33","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1002\/ana.21139","article-title":"Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17","volume":"61","author":"Rasmussen","year":"2007","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jpeds.2011.06.029_bib34","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1146\/annurev.neuro.23.1.217","article-title":"Glutamine repeats and neurodegeneration","volume":"23","author":"Zoghbi","year":"2000","journal-title":"Annu Rev Neurosci"},{"key":"10.1016\/j.jpeds.2011.06.029_bib35","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.pediatrneurol.2005.02.010","article-title":"Early onset of ataxia in a child with a pathogenic SCA8 allele","volume":"33","author":"Felling","year":"2005","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.jpeds.2011.06.029_bib36","doi-asserted-by":"crossref","first-page":"1831","DOI":"10.1056\/NEJM199112263252602","article-title":"Incidence of cancer in 161 families affected by ataxia-telangiectasia","volume":"325","author":"Swift","year":"1991","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jpeds.2011.06.029_bib37","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1017\/S0317167100000822","article-title":"The molecular basis and clinical management of ataxia telangiectasia","volume":"27","author":"Spacey","year":"2000","journal-title":"Can J Neurol Sci"},{"key":"10.1016\/j.jpeds.2011.06.029_bib38","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10048-003-0170-z","article-title":"Friedreich ataxia: update on pathogenesis and possible therapies","volume":"5","author":"Voncken","year":"2004","journal-title":"Neurogenetics"},{"key":"10.1016\/j.jpeds.2011.06.029_bib39","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1016\/j.spen.2008.10.011","article-title":"The wobbly child: an approach to inherited ataxias","volume":"15","author":"Bernard","year":"2008","journal-title":"Semin Pediatr Neurol"},{"key":"10.1016\/j.jpeds.2011.06.029_bib40","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1542\/peds.102.1.98","article-title":"Consequences of the delayed diagnosis of ataxia-telangiectasia","volume":"102","author":"Cabana","year":"1998","journal-title":"Pediatrics"},{"key":"10.1016\/j.jpeds.2011.06.029_bib41","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/S1071-9091(03)00026-3","article-title":"Ataxia-telangiectasia: diagnosis and treatment","volume":"10","author":"Perlman","year":"2003","journal-title":"Semin Pediatr Neurol"},{"key":"10.1016\/j.jpeds.2011.06.029_bib42","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1093\/bmb\/ldm012","article-title":"Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia","volume":"81-82","author":"Lavin","year":"2007","journal-title":"Br Med Bull"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347611006561?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347611006561?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,30]],"date-time":"2018-11-30T13:22:46Z","timestamp":1543584166000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347611006561"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1]]},"references-count":42,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["S0022347611006561"],"URL":"https:\/\/doi.org\/10.1016\/j.jpeds.2011.06.029","relation":{},"ISSN":["0022-3476"],"issn-type":[{"type":"print","value":"0022-3476"}],"subject":[],"published":{"date-parts":[[2012,1]]}}}