{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T15:10:36Z","timestamp":1778512236719,"version":"3.51.4"},"reference-count":49,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2022,11,4]],"date-time":"2022-11-04T00:00:00Z","timestamp":1667520000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science KAKENHI","doi-asserted-by":"crossref","award":["22K15214"],"award-info":[{"award-number":["22K15214"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,12,19]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Myotonic dystrophy type 1 (DM1) is an inherited autosomal-dominant condition that induces altered splicing of transcripts, including MAPT, leading to a distinctive abnormal deposition of tau protein in the CNS. We characterized the tau isoforms of abnormal depositions in the brains of 4 patients with classic DM1 by immunohistochemistry using isoform-specific antibodies. All patients, including those of presenile age, showed numerous neurofibrillary tangles (NFTs) of both 3-repeat and 4-repeat tau in the limbic area and mild involvement in the cerebral cortex. Amyloid-\u03b2 deposition was only seen in 1 senile case while cortical tauopathy in all other cases was consistent with primary age-related tauopathy (PART). In the putamen and globus pallidus, only a few tau deposits were observed. Tau deposits in the brainstem frequently showed a DM1-specific pattern with 3-repeat tau dominant NFTs. Additionally, tau-positive astrocytes morphologically similar to tufted astrocytes and astrocytic plaques were occasionally observed in the brainstem; however, they were predominantly composed of 3-repeat tau. Thus, the classic DM1 showed both early onset of PART-like pathology in the limbic areas as a progeroid syndrome of DM1 and an abnormal splicing event in the brainstem leading to 3-repeat tau dominant accumulation with both neuronal and astrocytic involvement.<\/jats:p>","DOI":"10.1093\/jnen\/nlac097","type":"journal-article","created":{"date-parts":[[2022,11,4]],"date-time":"2022-11-04T20:17:46Z","timestamp":1667593066000},"page":"29-37","source":"Crossref","is-referenced-by-count":7,"title":["Neuropathology of classic myotonic dystrophy type 1 is characterized by both early initiation of primary age-related tauopathy of the hippocampus and unique 3-repeat tauopathy of the brainstem"],"prefix":"10.1093","volume":"82","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6578-8092","authenticated-orcid":false,"given":"Hideomi","family":"Hamasaki","sequence":"first","affiliation":[{"name":"Department of Neuropathology, Graduate School of Medical Sciences, Kyushu University , Fukuoka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norihisa","family":"Maeda","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Graduate School of Medical Sciences, Kyushu University , Fukuoka, Japan"},{"name":"Department of Neurology, Neuro-Muscular Center, National Hospital Organization Omuta National Hospital , Fukuoka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naokazu","family":"Sasagasako","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Hospital Organization Beppu Medical Center , Oita, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Honda","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Graduate School of Medical Sciences, Kyushu University , Fukuoka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiro","family":"Shijo","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Graduate School of Medical Sciences, Kyushu University , Fukuoka, Japan"},{"name":"Department of Internal Medicine, Fukuoka Dental College Medical and Dental Hospital , Fukuoka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shin-Ichiro","family":"Mori","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Graduate School of Medical Sciences, Kyushu University , Fukuoka, Japan"},{"name":"Department of Neurology, Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine , Kurume, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaoru","family":"Yagita","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Graduate School of Medical Sciences, Kyushu University , Fukuoka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hajime","family":"Arahata","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Hospital Organization Beppu Medical Center , Oita, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toru","family":"Iwaki","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Graduate School of Medical Sciences, Kyushu University , Fukuoka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2022,11,4]]},"reference":[{"key":"2024032523490091900_nlac097-B1","first-page":"385","article-title":"Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member","volume":"69","author":"Brook","year":"1992","journal-title":"Cell"},{"key":"2024032523490091900_nlac097-B2","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1212\/WNL.54.6.1218","article-title":"New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). 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