Gradually Progressive Spastic Ataxia in a Young Man: Steadily Unsteady

Divyanshu Dubey, MD; Pravin Khemani, MD; Eric Remster, MD; Jeffrey L. Elliott, MD; JAMA Neurol. Published online December 12, 2016. doi:10.1001/jamaneurol.2016.1581

The final diagnosis was adult-onset FA. An atypical presentation of a more common condition such as FA, should always be considered as more likely than a common presentation of an extraordinarily rare disorder. It is now recognized that up to 25%of patients with FA may be considered atypical according to classical diagnostic criteria.
Patients with atypical FA may present with retained reflexes, spasticity, mild or absent limb ataxia, lack of dysarthria, and no cardiomyopathy. Among them, spastic ataxia with almost no sensory neuropathy has been associated with a limited GAA expansion. It is thought that GAA expansion size significantly affects the degree of involvement of the central somatosensory pathway and peripheral sensory axons, along with the overall severity of disease, as the clinical course of disease and neuropathology can be variable based on the degree of repeat expansion or heterozygosity of GAA mutation.

 Gradually Progressive Spastic Ataxia in a Young Man: Steadily Unsteady