Quantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia

• Type of Material: Article
• Authors: Sarah S. Milla, Emory University; Lucy Norcliffe-Kaufmann, Emory University; Eugene Won, New York University; Jose-Alberto Palma, New York University; Horacio Kaufmann, New York University; Benjamin Cohen, New York University; James S. Babb, New York University
• Language: English
• Date: 2019-08-01
• Publisher: SPRINGER HEIDELBERG
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: Copyright © 2019, Springer-Verlag GmbH Germany, part of Springer Nature
• Final Published Version (URL): http://dx.doi.org/10.1007/s10286-019-00593-0
• Title of Journal or Parent Work: CLINICAL AUTONOMIC RESEARCH
• Volume: 29
• Issue: 4
• Start Page: 469
• End Page: 473
• Grant/Funding Information: National Institutes of Health (U54-NS065736–01) and Familial Dysautonomia Foundation, Inc.
• Keywords: Autonomic dysfunction; Hereditary sensory autonomic neuropathy; MUTATION; Neurosciences & Neurology; GANGLIA; Riley-Day syndrome; Life Sciences & Biomedicine; Clinical Neurology; Trigeminal nerve; Science & Technology; Neuroimaging; Neurosciences
• Research Categories: Biology, Neuroscience; Health Sciences, Radiology

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.