Spinocerebellar ataxia type 2 presenting with cognitive regression in childhood

J Child Neurol. 2008 Sep;23(9):999-1001. doi: 10.1177/0883073808315622. Epub 2008 Mar 14.


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.

Publication types

  • Case Reports

MeSH terms

  • Age Factors
  • Age of Onset
  • Ataxia / genetics
  • Ataxia / physiopathology
  • Black or African American
  • Brain / metabolism
  • Brain / physiopathology
  • Child
  • Cognition Disorders / diagnosis
  • Cognition Disorders / genetics*
  • Cognition Disorders / physiopathology
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / physiopathology
  • Diagnosis, Differential
  • Female
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Movement Disorders / genetics
  • Movement Disorders / physiopathology
  • Neuropsychological Tests
  • Regression, Psychology*
  • Spinocerebellar Ataxias / complications*
  • Spinocerebellar Ataxias / physiopathology
  • Spinocerebellar Ataxias / psychology