Genetic ataxia
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Updated: Sep 28, 2026

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
Alberto L Rosa1, Tetsuo Ashizawa
1Universidad de Córdoba, Laboratory of Neurogenetics, Institute for Medical Research Mercedes y Martín Ferreyra-INIMEC, Carrer Researcher of the National Research Council (CONICET), Córdoba, Argentina.
Abstract:
Advances in molecular genetics have led to identification of an increasing number of genes responsible for inherited ataxic disorders. Consequently, DNA testing has become a powerful method to unambiguously establish the diagnosis in some of these disorders; however, there are limitations in this approach. Furthermore, the ethical, social, legal and psychological implications of the genetic test results are complex, necessitating appropriate counseling. This article intends to help the practicing neurologist clinically differentiate these disorders, choose appropriate genetic tests, and recognize the importance of counseling.
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