Open AccessMEFV gene mutations in neuro‐Behçet's disease and neuro‐Sweet disease
Author(s) -
Ishikawa Hidehiro,
Shindo Akihiro,
Ii Yuichiro,
Kishida Dai,
Niwa Atsushi,
Nishiguchi Yamato,
Matsuura Keita,
Kato Natsuko,
Mizutani Akane,
Tachibana Kei,
Hirata Yoshinori,
Matsuyama Hirofumi,
OgawaIto Ai,
Taniguchi Akira,
Tomimoto Hidekazu
Publication year - 2019
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.50937
Subject(s) - mefv , medicine , familial mediterranean fever , disease , headaches , gene mutation , mutation , gene , pathology , genetics , biology , surgery
Mediterranean fever (MEFV) gene mutations are associated with familial Mediterranean fever (FMF). Recent studies have suggested that MEFV gene mutations may act as disease modifiers in neuro‐Behçet's (NBD) disease and neuro‐Sweet disease (NSD). We investigated MEFV genes and clinical features in 17 patients with NBD or NSD. MEFV gene mutations were frequently observed (70.6%). Headaches and exertional leg pain were associated with MEFV gene mutations ( P < 0.05). Moreover, higher frequency of white matter lesions without sites predilection ( P < 0.05) and non‐parenchymal lesions ( P < 0.05) were also observed. MEFV gene mutations may be associated with particular findings and lesion sites.