Approaching the hereditary ataxias

Abstract

Hereditary ataxias are rare disorders characterized by significant clinical and genetic heterogeneity that can
pose a diagnostic challenge. The present paper aims to provide practical guidance to clinical neurologists
that may assist them in identifying potential heredoataxias and investigating them according to the latest
international guidelines, but also recent data from the study of the Greek population. A general approach
to the ataxic patient is initially presented, analyzing specifically any clinical features that may lead one to
suspect a hereditary cause and focusing on the sporadic patient, who often poses a diagnostic challenge.
A brief outline of the autosomal recessive, autosomal dominant, X-linked and mitochondrial hereditary
ataxias follows, focusing on clinical features of diagnostic importance. Finally, a diagnostic algorithm is
proposed for patients with slowly progressive cerebellar ataxia