Article
A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.
JAMA neurology - 1 Jul 2015
Ozaki Kokoro, Doi Hiroshi, Mitsui Jun, Sato Nozomu, Iikuni Yoichiro, Majima Takamasa, Yamane Kiyomi, Irioka Takashi, Ishiura Hiroyuki, Doi Koichiro, Morishita Shinichi, Higashi Miwa, Sekiguchi Teruhiko, Koyama Kazuo, Ueda Naohisa, Miura Yoshiharu, Miyatake Satoko, Matsumoto Naomichi, Yokota Takanori, Tanaka Fumiaki, Tsuji Shoji, Mizusawa Hidehiro, Ishikawa Kinya
Abstract excerpt
IMPORTANCE: Although mutations in 26 causative genes have been identified in the spinocerebellar ataxias (SCAs), the causative genes in a substantial number of families with SCA remain unidentified. OBJECTIVE: To identify the causative gene of SCA in 2 Japanese families with distinct neurological symptoms and radiological presentations. DESIGN, SETTING, AND PARTICIPANTS: Clinical genetic study at a referral...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.