Cerebellar Involvement in Attacks of Aquaporin-4-IgG Positive Neuromyelitis Optica Spectrum Disorder

Neurol Neuroimmunol Neuroinflamm. 2025 Jan;12(1):e200344. doi: 10.1212/NXI.0000000000200344. Epub 2024 Dec 11.

Abstract

Objectives: To characterize the frequency and clinicoradiologic phenotype of cerebellar involvement in attacks of aquaporin-4-IgG positive neuromyelitis optica spectrum disorder (AQP4+NMOSD) which are incompletely captured in current diagnostic criteria.

Methods: Brain MRI scans from patients with AQP4+NMOSD in the Mayo Clinic database were reviewed, and those with cerebellar T2-hyperintense lesions ≤30 days from attack onset were included for clinical and radiologic characterization.

Results: From 432 patients with AQP4+NMOSD, we identified 17 (4%) with cerebellar attacks. The median age at attack onset was 47 years (range, 7-74). Cerebellar symptoms and signs were noted in 16 (94%) of 17 and the remaining patient was intubated preventing a detailed cerebellar exam. The median Expanded Disability Status Scale score at nadir was 5 (range, 2-9.5). Sixteen (94%) had other regions involved during the attack, most frequently with brainstem or area postrema involvement. Cerebellar MRI T2-lesions (8 single; 11 contiguous with the brainstem; 6/15 [35%] enhancing) were located in cerebellar peduncles, 15 (inferior, 5; middle, 10; superior, 10), and cerebellar parenchyma, 8 (dentate, 4; medial, 2; lateral, 4). T2-lesions persisted in 9 (82%) of 11 beyond 6 months.

Discussion: Cerebellar involvement during attacks of AQP4+NMOSD is rare but the associated neurologic deficits tend to be severe. Cerebellar peduncle or dentate nucleus T2-lesions are frequent MRI accompaniments. Clinical features and MRI lesion patterns of cerebellar involvement could be incorporated into future iterations of AQP4+NMOSD criteria.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aquaporin 4* / immunology
  • Autoantibodies / blood
  • Cerebellum / diagnostic imaging
  • Cerebellum / pathology
  • Child
  • Female
  • Humans
  • Immunoglobulin G / blood
  • Magnetic Resonance Imaging*
  • Male
  • Middle Aged
  • Neuromyelitis Optica* / diagnostic imaging
  • Neuromyelitis Optica* / immunology
  • Neuromyelitis Optica* / pathology
  • Young Adult

Substances

  • Aquaporin 4
  • AQP4 protein, human
  • Immunoglobulin G
  • Autoantibodies