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Article

Triple A syndrome in Japan.

Muscle & nerve - 1 Sept 2013

Ikeda Masanori, Hirano Makito, Shinoda Keiich, Katsumata Noriyuki, Furutama Daisuke, Nakamura Katsuya, Ikeda Shu-Ichi, Tanaka Toshifumi, Hanafusa Toshiaki, Kitajima Hiroyuki, Kohno Hitoshi, Nakagawa Mizuho, Nakamura Yusaku, Ueno Satoshi

Abstract excerpt

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....

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PMID: 23861206
DOI: 10.1002/mus.23770

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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