Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases

Arima syndrome (AS) is a rare disease and its clinical features mimic those of Joubert syndrome or Joubert syndrome-related diseases (JSRD). Recently, we clarified the AS diagnostic criteria and its severe phenotype. However, genetic evidence of AS remains unknown. We explored causative genes of AS and compared the clinical and genetic features of AS with the other JSRD.

Source: Brain and Development - December 4, 2017 Category: Neurology Authors: Masayuki Itoh, Shuhei Ide, Yuji Iwasaki, Takashi Saito, Keishi Narita, Hongmei Dai, Shinji Yamakura, Takeki Furue, Hirotsugu Kitayama, Keiko Maeda, Eihiko Takahashi, Kiyoshi Matsui, Yu-ichi Goto, Sen Takeda, Masataka Arima Tags: Original article Source Type: research