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Triple a syndrome in Japan
Author(s) -
Ikeda Masanori,
Hirano Makito,
Shinoda Keiich,
Katsumata Noriyuki,
Furutama Daisuke,
Nakamura Katsuya,
Ikeda ShuIchi,
Tanaka Toshifumi,
Hanafusa Toshiaki,
Kitajima Hiroyuki,
Kohno Hitoshi,
Nakagawa Mizuho,
Nakamura Yusaku,
Ueno Satoshi
Publication year - 2013
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.23770
Subject(s) - amyotrophic lateral sclerosis , motor neuron , atrophy , medicine , achalasia , pathology , progressive muscular atrophy , disease , neuromuscular disease , muscle atrophy , neuroscience , biology , esophagus
ABSTRACT Introduction 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. Methods We conducted the first nationwide survey of triple A syndrome. Identified mutants were expressed as GFP‐fusion proteins in cultured cells. Results Two new patients were identified, and 1 had a novel mutation (p.Ser182fsX19). All mutant proteins tested were mislocalized from NPC to cytoplasm. Conclusions 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. Muscle Nerve 48 : 381–386, 2013