Diagnosing Hereditary Ataxias: A Case-Based Step-By-Step Approach

Abstract

William S Baek

Diagnosing ataxias can be challenging. The differential diagnosis for both acquired and hereditary ataxias is vast and expansive, obligating the neurologist to first rule out all potential treatable causes of ataxia prior to considering the possibility of hereditary ataxias. Family history is important, but more often than not family history is lacking, and sporadic cases are not uncommon. Not uncommonly an extensive workup might be unrewarding, which could be due to the variability of phenotypes, lack of commerciallyavailable genetic testing, or perhaps more significantly, cost.

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