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Quantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia

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Abstract

Purpose

Familial dysautonomia (FD) is a rare autosomal recessive disease that affects the development of sensory and autonomic neurons, including those in the cranial nerves. We aimed to determine whether conventional brain magnetic resonance imaging (MRI) could detect morphologic changes in the trigeminal nerves of these patients.

Methods

Cross-sectional analysis of brain MRI of patients with genetically confirmed FD and age- and sex-matched controls. High-resolution 3D gradient-echo T1-weighted sequences were used to obtain measurements of the cisternal segment of the trigeminal nerves. Measurements were obtained using a two-reader consensus.

Results

Twenty pairs of trigeminal nerves were assessed in ten patients with FD and ten matched controls. The median (interquartile range) cross-sectional area of the trigeminal nerves in patients with FD was 3.5 (2.1) mm2, compared to 5.9 (2.0) mm2 in controls (P < 0.001). No association between trigeminal nerve area and age was found in patients or controls.

Conclusions

Using conventional MRI, the caliber of the trigeminal nerves was significantly reduced bilaterally in patients with FD compared to controls, a finding that appears to be highly characteristic of this disorder. The lack of correlation between age and trigeminal nerve size supports arrested neuronal development rather than progressive atrophy.

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Funding

National Institutes of Health (U54-NS065736-01) and Familial Dysautonomia Foundation, Inc.

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Authors and Affiliations

  1. Department of Radiology, New York University School of Medicine, New York, NY, 10016, USA

    Eugene Won, Sarah S. Milla, Benjamin Cohen, James S. Babb & Yvonne W. Lui

  2. Department of Neurology, Dysautonomia Center, New York University School of Medicine, New York, NY, 10016, USA

    Jose-Alberto Palma & Horacio Kaufmann

  3. Department of Radiology, Emory University School of Medicine, Atlanta, GA, USA

    Sarah S. Milla & Lucy Norcliffe-Kaufmann

Authors
  1. Eugene Won
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  2. Jose-Alberto Palma
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  3. Horacio Kaufmann
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  4. Sarah S. Milla
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  5. Benjamin Cohen
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  6. Lucy Norcliffe-Kaufmann
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  7. James S. Babb
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  8. Yvonne W. Lui
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Corresponding authors

Correspondence to Horacio Kaufmann or Yvonne W. Lui.

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Conflict of interest

Dr. Palma receives funding support from the Familial Dysautonomia Foundation and is Managing Editor of Clinical Autonomic Research. Dr. Norcliffe-Kaufmann receives funding support from the Familial Dysautonomia Foundation. Dr. Kaufmann receives funding support from the Familial Dysautonomia Foundation and is Editor-in-Chief of Clinical Autonomic Research.

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Won, E., Palma, JA., Kaufmann, H. et al. Quantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia. Clin Auton Res 29, 469–473 (2019). https://doi.org/10.1007/s10286-019-00593-0

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  • DOI: https://doi.org/10.1007/s10286-019-00593-0

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