What clinical features prompt genetic testing for patients with progressive cerebellar ataxia?

In general, any patient who presents with a chronic progressive cerebellar ataxia and is </=21 years of age deserves genetic testing. If a subacute presentation arises with no clear metabolic, inflammatory, neoplastic, vascular, etc., etiology, I would also recommend genetic testing in this group.

Wi...

For Friedreich’s ataxia, genetic confirmation is useful to guide starting omaveloxolone treatment, though clinical markers are also needed.

Genetic testing for pure progressive cerebellar ataxia is otherwise currently more for information gathering rather than for clinical decision making. Autosomal...