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MEFV gene mutations in neuro-Behçet's disease and neuro-Sweet disease

Hidehiro Ishikawa1, Akihiro Shindo1, Yuichiro Ii1

  • 1Department of Neurology, Mie University Graduate School of Medicine, Mie, Japan.

Annals of Clinical and Translational Neurology
|November 5, 2019
PubMed

Insights

Mediterranean fever (MEFV) gene mutations are linked to neuro-Behçet

Area of Science:

  • Genetics and Neurology
  • Inflammatory Diseases
  • Autoimmune Disorders

Background:

  • Familial Mediterranean fever (FMF) is linked to Mediterranean fever (MEFV) gene mutations.
  • Emerging research suggests MEFV mutations may influence neuro-Behçet's (NBD) and neuro-Sweet disease (NSD) progression.
  • The interplay between MEFV genetics and neurological inflammatory conditions requires further investigation.

Purpose of the Study:

  • To explore the association between MEFV gene mutations and clinical manifestations in patients with NBD or NSD.
  • To identify potential correlations between MEFV genotypes and specific neurological findings or lesion patterns.

Main Methods:

  • Genetic analysis of MEFV genes in 17 patients diagnosed with NBD or NSD.
  • Clinical data collection and correlation with identified MEFV mutations.
  • Neuroimaging analysis to assess lesion characteristics.

Main Results:

  • MEFV gene mutations were identified in a significant proportion (70.6%) of the studied cohort.
  • Headaches and exertional leg pain showed a statistically significant association with MEFV mutations (P < 0.05).
  • Increased prevalence of non-predilection white matter lesions and non-parenchymal lesions were observed in patients with MEFV mutations (P < 0.05).

Conclusions:

  • MEFV gene mutations are frequently observed in patients with neuro-Behçet's disease and neuro-Sweet disease.
  • These mutations may be associated with specific clinical symptoms, such as headaches and leg pain.
  • MEFV mutations might correlate with distinct neuroimaging findings, including white matter and non-parenchymal lesions.

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