Gradually Progressive Spastic Ataxia in a Young Man: Steadily Unsteady

JAMA Neurol. 2017 Feb 1;74(2):238-241. doi: 10.1001/jamaneurol.2016.1581.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Atrophy / pathology
  • Brain / diagnostic imaging
  • Brain / pathology*
  • Disease Progression*
  • Humans
  • Intellectual Disability / complications*
  • Intellectual Disability / diagnostic imaging
  • Magnetic Resonance Imaging
  • Male
  • Motor Neuron Disease / complications*
  • Motor Neuron Disease / diagnostic imaging
  • Muscle Spasticity / complications*
  • Muscle Spasticity / diagnostic imaging
  • Optic Atrophy / complications*
  • Optic Atrophy / diagnostic imaging
  • Spinal Cord / diagnostic imaging
  • Spinocerebellar Ataxias / complications*
  • Spinocerebellar Ataxias / diagnostic imaging

Supplementary concepts

  • Spastic Ataxia