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Updated: Aug 20, 2025

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
Evaluation of Cerebellar Ataxic Patients
Sara Radmard1, Theresa A Zesiewicz2, Sheng-Han Kuo3
1Department of Neurology, Columbia University Irving Medical Center, 710 West 168th Street, Floor 3, New York, NY 10032, USA.
Abstract:
Cerebellar ataxia results from damage to the cerebellum and presents as movement incoordination and variability, gait impairment, and slurred speech. Patients with cerebellar ataxia can also have cognitive and mood changes. Although the identification of causes for cerebellar ataxia can be complex, age of presentation, chronicity, family history, and associated movement disorders may provide diagnostic clues. There are many genetic causes for cerebellar ataxia, and the common autosomal dominant and recessive ataxia are due to genetic repeat expansions. Step-by-step approach will lead to the identification of the causes. Symptomatic and potential disease-modifying therapies may benefit patients with cerebellar ataxia.

