title: Spinocerebellar ataxia type 2 presenting with cognitive regression in childhood.
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 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.
authors.affiliation: Section of Pediatric Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Melissa B
authors.initials: MB
authors.lastname: Ramocki
authors.forename: Lynn
authors.initials: L
authors.lastname: Chapieski
authors.forename: Ryan O
authors.initials: RO
authors.lastname: McDonald
authors.forename: Fabio
authors.initials: F
authors.lastname: Fernandez
authors.forename: Amy D
authors.initials: AD
authors.lastname: Malphrus
mesh_terms: D001741:Black or African American; D000367:Age Factors; D017668:Age of Onset; D001259:Ataxia / Q000235:genetics / Q000503:physiopathology; D001921:Brain / Q000378:metabolism / Q000503:physiopathology; D002648:Child; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D009069:Movement Disorders / Q000235:genetics / Q000503:physiopathology; D009483:Neuropsychological Tests; D012043:Regression, Psychology; D020754:Spinocerebellar Ataxias / Q000150:complications* / Q000503:physiopathology / Q000523:psychology