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A new MRI marker of ataxia with oculomotor apraxia

Solène Ronsin1, Salem Hannoun2, Stéphane Thobois3

  • 1Hospices Civils de Lyon, Neurology D and Neuro-Ophthalmology Unit, Hôpital Neurologique Pierre Wertheimer, Bron, F-69677, France; Université de Lyon, Lyon 1 University, Lyon, F-69373, France.

European Journal of Radiology
|January 3, 2019
PubMed
Abstract

Insights

Loss of dentate nuclei hypointensity on SWI and FLAIR MRI is a highly sensitive and specific biomarker for oculomotor apraxia (AOA). This finding aids in diagnosing AOA in patients with genetic ataxia.

Area of Science:

  • Neuroimaging
  • Neurology
  • Radiology

Background:

  • Oculomotor apraxia (AOA) is a rare neurological disorder.
  • Accurate diagnosis of AOA is crucial for appropriate management.
  • Identifying reliable biomarkers for AOA is an ongoing research area.

Purpose of the Study:

  • To evaluate the diagnostic accuracy of dentate nuclei (DN) hypointensity on susceptibility weighted imaging (SWI) and FLAIR MRI sequences.
  • To determine the sensitivity and specificity of absent DN hypointensity in identifying patients with AOA.

Main Methods:

  • Prospective study including 27 patients with genetic ataxia (AOA, Friedreich ataxia, ataxia with vitamin E deficit, dominant genetic ataxia) and 15 healthy controls.
  • Qualitative MRI classification for DN hypointensity on SWI and FLAIR.
  • Quantitative analysis of DN signal intensity ratio relative to brainstem white matter.

Main Results:

  • Absence of DN SWI and FLAIR hypointensity was observed in all 11 AOA patients.
  • This absence of hypointensity demonstrated 100% sensitivity and specificity for AOA.
  • Quantitative analysis showed significantly higher DN signal intensity ratios in AOA patients compared to controls and other ataxia groups.

Conclusions:

  • Loss of normal dentate nuclei hypointensity on SWI and FLAIR MRI is a highly sensitive and specific biomarker for AOA.
  • This imaging finding can serve as a valuable diagnostic tool for AOA.
  • Further research with larger cohorts is warranted to confirm these findings.
Keywords:
Autosomal recessive cerebellar ataxiaDentate nucleiGenetic ataxiaIronSpinocerebellar ataxiaSusceptibility weighted imaging

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