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Clinical Autonomic Research

, Volume 29, Issue 4, pp 469–473 | Cite as

Quantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia

  • Eugene Won
  • Jose-Alberto Palma
  • Horacio KaufmannEmail author
  • Sarah S. Milla
  • Benjamin Cohen
  • Lucy Norcliffe-Kaufmann
  • James S. Babb
  • Yvonne W. LuiEmail author
Short Communication

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.

Keywords

Hereditary sensory autonomic neuropathy Neuroimaging Autonomic dysfunction Riley–Day syndrome Neuroimaging Trigeminal nerve 

Notes

Funding

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

Compliance with ethical standards

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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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of RadiologyNew York University School of MedicineNew YorkUSA
  2. 2.Department of Neurology, Dysautonomia CenterNew York University School of MedicineNew YorkUSA
  3. 3.Department of RadiologyEmory University School of MedicineAtlantaUSA

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