HEREDITARY ATAXIAS

Authors

A. Provatas
P. Stamati
E. Bellou
Ch. Marogianni
V. Tsimourtou
G. Chatzigeorgiou

Keywords:

Ataxia, genetic of ataxias, spinocerebellar ataxias, mitochondrial diseases

Abstract

Ataxia is defined as the inability to maintain normal posture and smoothness of movements. It is a prominent feature of many acquired and hereditary neurologic disorders.
Current review is focused on hereditary ataxias. The mode of inheritance of these diseases varies and autosomal dominant/recessive, sex-linked and non-mendelian inheritance patterns have been described. Certain mitochondrial defects are examples of non-mendelian inheritance. Each of the above categories is further analyzed and the clinical manifestations of the various diseases is described.
Finally, a diagnostic approach to patients with ataxia is proposed.