Hypothalamic Lesions and Association with HLA-DRB1 alleles in Multiple Sclerosis (MS) and Neuromyelitis Optica (NMO)

  • Wei QIU, Centre for Neuromuscular and Neurological disorders, University of Western Australia, Australia
  • Sonja RAVEN, Centre for Neuromuscular and Neurological disorders, University of Western Australia, Australia
  • Jing-Shan WU, Centre for Neuromuscular and Neurological disorders, University of Western Australia, Australia
  • William Carroll, Centre for Neuromuscular and Neurological disorders, University of Western Australia, Australia
  • Frank MASTAGLIA, Centre for Neuromuscular and Neurological disorders, University of Western Australia, Australia
  • Allan Kermode, Centre for Neuromuscular and Neurological disorders, University of Western Australia, Australia

Objectives: To determine the frequency of hypothalamic lesions and correlation with HLA-DRB1 alleles in West Australian patients with MS and NMO.
Methods: Brain MRI scans of 105 Caucasian patients with classical MS (50 with stable and 55 with more active disease) and 12 patients with NMO were reviewed and high-resolution HLA-DRB1 genotyping was performed.
Results: Hypothalamic lesions were found in 13.3% of MS patients and in none of the NMO patients. A higher frequency of hypothalamic lesions was found in patients with active MS (18.2%) than in the stable group (8.0%), but the difference was not statistically significant (p=0.13). Patients with hypothalamic lesions also had more lesions in other cerebral areas and had a significantly higher frequency of HLA-DRB1*0401 than patients without hypothalamic lesions (30.0 vs 5.8%, p=0.04, uncorrected).
Conclusions: Hypothalamic lesions in MS are more frequent than previously reported and may be associated with the HLA-DRB1*0401 allele, but were not found in any of the NMO group of patients.