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- W2004185888 abstract "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 3½ 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." @default.
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- W2004185888 date "2008-02-20" @default.
- W2004185888 modified "2023-09-26" @default.
- W2004185888 title "Spinocerebellar Ataxia Type 2 Presenting With Cognitive Regression in Childhood" @default.
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- W2004185888 doi "https://doi.org/10.1177/0883073808315622" @default.
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