Aquaporin 4 distribution in the brain and its relevance for the radiological appearance of neuromyelitis optica spectrum disease

J Neuroradiol. 2021 May;48(3):170-175. doi: 10.1016/j.neurad.2019.03.015. Epub 2019 Apr 11.

Abstract

Background and purpose: To determine the precise incidence of lesions at sites of high Aquaporin-4 expression (hAQP4) and their possible association with known neuromyelitis optica spectrum disease (NMOSD) lesions patterns.

Materials and methods: A retrospective analysis of brain and, when available, spinal cord MRI scans of 54 NMOSD patients recruited among the French NMOSD cohort was performed. Brain lesions were annotated as MS-like, non-specific, or evocative of NMOSD. The topography of hAQP4 was reassessed by human brain atlas. The incidence of lesions in hAQP4 and their association with lesions evocative of NMOSD was estimated.

Results: Among those included (41/54 female, mean age: 45 years) 47/54 (87%) presented brain lesions. Twenty-six/47 (55%) had lesions in hAQP4. Thirty-two/54 patients (60%) had lesions considered evocative of NMOSD. The majority of them also presented lesions in hAQP4 (65%, 21/32). Patients with lesions in hAQP4 and lesions evocative of NMOSD demonstrated more extensive myelitis compared to the other patients (7 [6-10] versus 4 [3-5] vertebral segments, P=0.009).

Conclusion: The coexistence of lesions evocative of NMOSD and in hAQP4 is associated with significantly more extensive myelitis, and might have pathophysiological and clinical significance.

Keywords: All Demyelinating Diseases; Aquaporin 4; Devic's syndrome; MRI.

MeSH terms

  • Aquaporin 4* / genetics
  • Brain / diagnostic imaging
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Neuromyelitis Optica* / diagnostic imaging
  • Retrospective Studies

Substances

  • AQP4 protein, human
  • Aquaporin 4