Document Detail

Spinocerebellar ataxia type 2 presenting with cognitive regression in childhood.
MedLine Citation:
PMID:  18344458     Owner:  NLM     Status:  MEDLINE    
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.
Melissa B Ramocki; Lynn Chapieski; Ryan O McDonald; Fabio Fernandez; Amy D Malphrus
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-03-14
Journal Detail:
Title:  Journal of child neurology     Volume:  23     ISSN:  1708-8283     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2008 Sep 
Date Detail:
Created Date:  2008-10-01     Completed Date:  2009-01-08     Revised Date:  2014-09-08    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  999-1001     Citation Subset:  IM    
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MeSH Terms
African Americans
Age Factors
Age of Onset
Ataxia / genetics,  physiopathology
Brain / metabolism,  physiopathology
Cognition Disorders / diagnosis,  genetics*,  physiopathology
Developmental Disabilities / diagnosis,  genetics*,  physiopathology
Diagnosis, Differential
Genetic Predisposition to Disease / genetics
Movement Disorders / genetics,  physiopathology
Neuropsychological Tests
Regression (Psychology)*
Spinocerebellar Ataxias / complications*,  physiopathology,  psychology
Grant Support

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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