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Afferent visual pathway affection in patients with PMP22 deletion-related hereditary neuropathy with liability to pressure palsies.

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Item Type:Article
Title:Afferent visual pathway affection in patients with PMP22 deletion-related hereditary neuropathy with liability to pressure palsies.
Creators Name:Brandt, A.U. and Meinert-Bohn, E. and Rinnenthal, J. and Zimmermann, H. and Mikolajczak, J. and Oberwahrenbrock, T. and Papazoglou, S. and Pfüller, C.F. and Schinzel, J. and Tackenberg, B. and Paul, F. and Hahn, K. and Bellmann-Strobl, J.
Abstract:BACKGROUND: The PMP22 gene encodes a protein integral to peripheral myelin. Its deletion leads to hereditary neuropathy with liability to pressure palsies (HNPP). PMP22 is not expressed in the adult central nervous system, but previous studies suggest a role in CNS myelin development. The objective of this study was to identify potential structural and functional alterations in the afferent visual system in HNPP patients. METHODS: Twenty HNPP patients and 18 matched healthy controls (HC) were recruited in a cross-sectional study. Participants underwent neurological examination including visual acuity, visual evoked potential (VEP) examination, optical coherence tomography (OCT), and magnetic resonance imaging with calculation of brain atrophy, regarding grey and white matter, and voxel based morphometry (VBM), in addition answered the National Eye Institute's 39-item Visual Functioning Questionnaire (NEI-VFQ). Thirteen patients and 6 HC were additionally examined with magnetic resonance spectroscopy (MRS). RESULTS: All patients had normal visual acuity, but reported reduced peripheral vision in comparison to HC in the NEI-VFQ (p = 0.036). VEP latency was prolonged in patients (P100 = 103.7±5.7 ms) in comparison to healthy subjects (P100 = 99.7±4.2 ms, p = 0.007). In OCT, peripapillary retinal nerve fiber layer thickness RNFL was decreased in the nasal sector (90.0±15.5 vs. 101.8±16.5, p = 0.013), and lower nasal sector RNFL correlated with prolonged VEP latency (Rho = -0.405, p = 0.012). MRS revealed reduced tNAA (731.4±45.4 vs. 814.9±62.1, p = 0.017) and tCr (373.8±22.2 vs. 418.7±31.1, p = 0.002) in the visual cortex in patients vs. HC. Whole brain volume, grey and white matter volume, VBM and metabolites in a MRS sensory cortex control voxel did not differ significantly between patients and HC. CONCLUSION: PMP22 deletion leads to functional, metabolic and macro-structural alterations in the afferent visual system of HNPP patients. Our data suggest a functional relevance of these changes for peripheral vision, which warrants further investigation and confirmation.
Keywords:Arthrogryposis, Brain, Case-Control Studies, Cross-Sectional Studies, Gray Matter, Hereditary Sensory and Motor Neuropathy, Magnetic Resonance Imaging, Myelin Proteins, Optical Coherence Tomography, Retina, Sequence Deletion, Visual Acuity, Visual Cortex, Visual Evoked Potentials, Visual Pathways, White Matter
Source:PLoS ONE
Publisher:Public Library of Science
Page Range:e0164617
Date:17 October 2016
Official Publication:https://doi.org/10.1371/journal.pone.0164617
PubMed:View item in PubMed

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