pubmed-article:18344458 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:18344458 | lifeskim:mentions | umls-concept:C0231335 | lld:lifeskim |
pubmed-article:18344458 | lifeskim:mentions | umls-concept:C0752121 | lld:lifeskim |
pubmed-article:18344458 | lifeskim:mentions | umls-concept:C0684321 | lld:lifeskim |
pubmed-article:18344458 | lifeskim:mentions | umls-concept:C0449450 | lld:lifeskim |
pubmed-article:18344458 | lifeskim:mentions | umls-concept:C1516691 | lld:lifeskim |
pubmed-article:18344458 | pubmed:issue | 9 | lld:pubmed |
pubmed-article:18344458 | pubmed:dateCreated | 2008-10-1 | lld:pubmed |
pubmed-article:18344458 | pubmed:abstractText | Spinocerebellar ataxia type 2 typically presents in adulthood with progressive ataxia, dysarthria, tremor, and slow saccadic eye movements. Childhood-onset spinocerebellar ataxia type 2 is rare, and only the infantile-onset form has been well characterized clinically. This article describes a girl who met all developmental milestones until age 3(1/2) years, when she experienced cognitive regression that preceded motor regression by 6 months. A diagnosis of spinocerebellar ataxia type 2 was delayed until she presented to the emergency department at age 7 years. This report documents the results of her neuropsychologic evaluation at both time points. This case broadens the spectrum of spinocerebellar ataxia type 2 presentation in childhood, highlights the importance of considering a spinocerebellar ataxia in a child who presents with cognitive regression only, and extends currently available clinical information to help clinicians discuss the prognosis in childhood spinocerebellar ataxia type 2. | lld:pubmed |
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pubmed-article:18344458 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:18344458 | pubmed:language | eng | lld:pubmed |
pubmed-article:18344458 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:18344458 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:18344458 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:18344458 | pubmed:month | Sep | lld:pubmed |
pubmed-article:18344458 | pubmed:issn | 1708-8283 | lld:pubmed |
pubmed-article:18344458 | pubmed:author | pubmed-author:ChapieskiLynn... | lld:pubmed |
pubmed-article:18344458 | pubmed:author | pubmed-author:RamockiMeliss... | lld:pubmed |
pubmed-article:18344458 | pubmed:author | pubmed-author:MalphrusAmy... | lld:pubmed |
pubmed-article:18344458 | pubmed:author | pubmed-author:McDonaldRyan... | lld:pubmed |
pubmed-article:18344458 | pubmed:author | pubmed-author:FernandezFabi... | lld:pubmed |
pubmed-article:18344458 | pubmed:issnType | Electronic | lld:pubmed |
pubmed-article:18344458 | pubmed:volume | 23 | lld:pubmed |
pubmed-article:18344458 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:18344458 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:18344458 | pubmed:pagination | 999-1001 | lld:pubmed |
pubmed-article:18344458 | pubmed:dateRevised | 2011-5-11 | lld:pubmed |
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pubmed-article:18344458 | pubmed:year | 2008 | lld:pubmed |
pubmed-article:18344458 | pubmed:articleTitle | Spinocerebellar ataxia type 2 presenting with cognitive regression in childhood. | lld:pubmed |
pubmed-article:18344458 | pubmed:affiliation | Section of Pediatric Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA. | lld:pubmed |
pubmed-article:18344458 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:18344458 | pubmed:publicationType | Case Reports | lld:pubmed |