Related Experiment Video
Updated: Aug 25, 2026

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
[Clinical features and diagnosis of spinocerebellar ataxia]
Péter Klivényi1, Zoltán Horváth, László Vécsei
1Szegedi Tudományegyetem, Neurológiai Klinika, 6725 Szeged, Semmelweis u. 6. klivenyi@nepsy.szote.u-szeged.hu
Abstract:
In the past decade, a great progress has been made in understanding genetic basis of the spinocerebellar ataxia. Based upon the genotypes, more then 20 subgroups of autosomal dominant spinocerebellar ataxia have been identified with different gene mutations. Neither the pathomechanism nor the function of these genes is fully understood. In these disorders the main clinical sign is ataxia. Other symptoms may be present as well, but no specific clinical feature is known for differentiating subgroups. Specific diagnosis can be made by genetic tests. In this review we summarize the clinical features and genetic backgrounds of the most common spinocerebellar ataxias.
Related Concept Videos
Multiple Sclerosis l: Introduction
Alterations in Muscle Tone ll
Huntington Disease l: Introduction
Parkinson Disease l: Introduction
Parkinson Disease ll: Pathophysiology
Major Somatic Sensory Pathways
