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Clinical Pathologic Conference
February 2017

Gradually Progressive Spastic Ataxia in a Young ManSteadily Unsteady

Author Affiliations
  • 1Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas
JAMA Neurol. 2017;74(2):238-241. doi:10.1001/jamaneurol.2016.1581

A 26-year-old right-handed man presented with progressive gait imbalance over 6 years. His examination was consistent with cerebellar and upper motor neuronal dysfunction. He had no significant family history. Most of the serum and cerebrospinal fluid studies were unremarkable. Neuroimaging was remarkable for mild cerebellar and noticeable thoracic spinal cord atrophy. The initial differential diagnosis for the patient’s presentation was broad, but because of certain clinical characteristics, it was later focused on hereditary ataxias. Detailed analysis of the clinical features in the history, neurologic examination, and neuroimaging studies led to the diagnosis.