{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T21:32:18Z","timestamp":1791840738078,"version":"4.3.4"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,7,17]],"date-time":"2013-07-17T00:00:00Z","timestamp":1374019200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We conducted the first nationwide survey of triple A syndrome. Identified mutants were expressed as GFP\u2010fusion proteins in cultured cells.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two new patients were identified, and 1 had a novel mutation (p.Ser182fsX19). All mutant proteins tested were mislocalized from NPC to cytoplasm.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>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. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>48<\/jats:bold>: 381\u2013386, 2013<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.23770","type":"journal-article","created":{"date-parts":[[2013,1,31]],"date-time":"2013-01-31T04:12:45Z","timestamp":1359605565000},"page":"381-386","source":"Crossref","is-referenced-by-count":19,"title":["Triple a syndrome in Japan"],"prefix":"10.1002","volume":"48","author":[{"given":"Masanori","family":"Ikeda","sequence":"first","affiliation":[{"name":"Department of Neurology Nara Medical University School of Medicine Kashihara, Nara Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makito","family":"Hirano","sequence":"additional","affiliation":[{"name":"Department of Neurology Nara Medical University School of Medicine Kashihara, Nara Japan"},{"name":"Department of Neurology Sakai Hospital Kinki University Faculty of Medicine 2\u20107\u20101 Harayamadai, Minami\u2010ku, Sakai Osaka 590\u20100132 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiich","family":"Shinoda","sequence":"additional","affiliation":[{"name":"Department of Physical Therapy Faculty of Nursing and Rehabilitation Aino University Takatsuki, Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriyuki","family":"Katsumata","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Furutama","sequence":"additional","affiliation":[{"name":"First Department of Internal Medicine Osaka Medical College Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsuya","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Medicine (Neurology and Rheumatology) Shinshu University School of Medicine Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu\u2010Ichi","family":"Ikeda","sequence":"additional","affiliation":[{"name":"Department of Medicine (Neurology and Rheumatology) Shinshu University School of Medicine Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshifumi","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of Medical Engineering Faculty of Nursing and Rehabilitation Aino University Takasuki, Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiaki","family":"Hanafusa","sequence":"additional","affiliation":[{"name":"First Department of Internal Medicine Osaka Medical College Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Kitajima","sequence":"additional","affiliation":[{"name":"Department of Neonatology Osaka Medical Center and Research Institute for Maternal and Child Health Osaka 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