{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T11:51:10Z","timestamp":1785412270388,"version":"3.56.0"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T00:00:00Z","timestamp":1706486400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["20FC1006"],"award-info":[{"award-number":["20FC1006"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["23FC1014"],"award-info":[{"award-number":["23FC1014"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Multisystem proteinopathy (MSP) is an inherited disorder in which protein aggregates with TAR DNA\u2010binding protein of 43\u2009kDa form in multiple organs. Mutations in <jats:italic>VCP<\/jats:italic>, <jats:italic>HNRNPA2B1<\/jats:italic>, <jats:italic>HNRNPA1<\/jats:italic>, <jats:italic>SQSTM1<\/jats:italic>, <jats:italic>MATR3<\/jats:italic>, and <jats:italic>ANXA11<\/jats:italic> are causative for MSP. This study aimed to conduct a nationwide epidemiological survey based on the diagnostic criteria established by the Japan MSP study group.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We conducted a nationwide epidemiological survey by administering primary and secondary questionnaires among 6235 specialists of the Japanese Society of Neurology.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In the primary survey, 47 patients with MSP were identified. In the secondary survey of 27 patients, inclusion body myopathy was the most common initial symptom (74.1%), followed by motor neuron disease (11.1%), frontotemporal dementia (FTD, 7.4%), and Paget's disease of bone (PDB, 7.4%), with no cases of parkinsonism. Inclusion body myopathy occurred most frequently during the entire course of the disease (81.5%), followed by motor neuron disease (25.9%), PDB (18.5%), FTD (14.8%), and parkinsonism (3.7%). Laboratory findings showed a high frequency of elevated serum creatine kinase levels and abnormalities on needle electromyography, muscle histology, brain magnetic resonance imaging, and perfusion single\u2010photon emission computed tomography.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>The low frequency of FTD and PDB may suggest that FTD and PDB may be widely underdiagnosed and undertreated in clinical practice.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.52011","type":"journal-article","created":{"date-parts":[[2024,1,30]],"date-time":"2024-01-30T05:33:51Z","timestamp":1706592831000},"page":"938-945","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Nationwide survey of patients with multisystem proteinopathy in Japan"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9315-3492","authenticated-orcid":false,"given":"Satoshi","family":"Yamashita","sequence":"first","affiliation":[{"name":"Department of Neurology Graduate School of Medical Sciences, Kumamoto University  Kumamoto Japan"},{"name":"Department of Neurology International University of Health and Welfare Narita Hospital  Narita Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Neurology National Center Hospital, National Center of Neurology and Psychiatry  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Hashimoto","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery National Hospital Organization Osaka Minami Medical Center  Osaka 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Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6701-7814","authenticated-orcid":false,"given":"Rumiko","family":"Izumi","sequence":"additional","affiliation":[{"name":"Department of Neurology Tohoku University Graduate School of Medicine  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoki","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Neurology Tohoku University Graduate School of Medicine  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitoshi","family":"Warita","sequence":"additional","affiliation":[{"name":"Department of Neurology Tohoku University Graduate School of Medicine  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masashi","family":"Aoki","sequence":"additional","affiliation":[{"name":"Department of Neurology Tohoku University Graduate School of Medicine  Sendai 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