Approach to the differential diagnosis of cerebellar Ataxias

Abstract

Ataxias are a complex and heterogeneous group of disorders characterized by the absence of order and coordination of voluntary movements and loss of equilibrium. The global nosological spectrum includes early versus late onset, cerebellar versus sensory pathophysiology, and genetic versus nongenetic causes. In the diagnosis process information about familial history is a fundamental tool to classify the patient’s disorder as hereditary Ataxia or sporadic Ataxia. Differential diagnosis should be addressed by taking into account four clinical and biological criteria: (1) clinical picture, age at onset and natural history; (2) biochemical and neuroimaging markers; (3) Mendelian or mitochondrial inheritance pattern versus sporadic case with no familial history; and (4) genetic testing of Ataxia genes and specific mutations.