肌萎缩侧索硬化
运动神经元
萎缩
医学
贲门失弛缓症
病理
进行性肌萎缩
疾病
神经肌肉疾病
肌肉萎缩
内科学
神经科学
生物
食管
作者
Masanori Ikeda,Makito Hirano,Keiich Shinoda,Noriyuki Katsumata,Daisuke Furutama,Katsuya Nakamura,Shu‐ichi Ikeda,Toshifumi Tanaka,Toshiaki Hanafusa,Hiroyuki Kitajima,Hitoshi Kohno,Mizuho Nakagawa,Yusaku Nakamura,Satoshi Ueno
摘要
Triple A syndrome is an autosomal recessive disease, characterized by esophageal achalasia, alacrima, and adrenal insufficiency, as well as involvement of the central, peripheral, and autonomic nervous systems. This disease mimics amyotrophic lateral sclerosis in some patients. The causative gene encodes ALADIN, a nuclear pore complex (NPC) component. Only 5 patients have been reported in Japan.We conducted the first nationwide survey of triple A syndrome. Identified mutants were expressed as GFP-fusion proteins in cultured cells.Two new patients were identified, and 1 had a novel mutation (p.Ser182fsX19). All mutant proteins tested were mislocalized from NPC to cytoplasm.The most consistent neurological manifestation of triple A syndrome in Japanese patients was progressive bulbospinal muscular atrophy with both upper and lower motor neuron involvement, which mimicked motor neuron disease, similar to that seen in patients in Western countries. The identification of the new patients suggests that more cases are undiagnosed in Japan.
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