{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,15]],"date-time":"2025-08-15T00:23:30Z","timestamp":1755217410761,"version":"3.43.0"},"reference-count":31,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T00:00:00Z","timestamp":1744156800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["24FC1008"],"award-info":[{"award-number":["24FC1008"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP22wm0425019"],"award-info":[{"award-number":["JP22wm0425019"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>A long\u2010surviving older sister and her younger brother, both with a juvenile type of DRPLA, were autopsied. They had 69 and 77 CAG repeats in the atrophin\u20101 gene (<jats:italic>ATN1<\/jats:italic>), respectively. The older sister developed intellectual disability at the age of 10\u2009years, followed by epilepsy, and survived for 40\u2009years supported by tube feeding and tracheostomy with laryngeal closure without signs of anoxia and malnutrition. As the disease progressed, brain CT revealed a progressive skull thickening alongside brain atrophy. The younger brother, who had developmental delay at the age of 3\u2009years, died of status epilepticus aged 24\u2009years. Their father developed cerebellar ataxia at 56\u2009years old when his daughter was 27\u2009years old, and the expanded allele had 63 CAG repeats in <jats:italic>ATN1<\/jats:italic>. His clinical course was characterized by the sudden onset of severe psychiatric symptoms and choreatic movement. He died of aspiration pneumonia and suffered from malignant lymphoma aged 72\u2009years. Neuropathological examination of this older sister with extended survival of DRPLA revealed a thickened skull, atrophic brainstem and cerebellum, and a thin spinal cord. We found neuronal loss and gliosis across a wide range of brain regions in addition to severe degeneration of the dentatorubral and pallidoluysian systems along with regions previously reported to exhibit polyglutamine pathology. In contrast, some regions previously reported to exhibit polyglutamine pathology remained preserved. The cerebellar cortex showed three\u2010layer degeneration, and changes in the cerebral white matter appeared to correspond to lesions in the cerebral cortex.<\/jats:p>","DOI":"10.1111\/neup.70007","type":"journal-article","created":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T19:04:16Z","timestamp":1744225456000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A <scp>DRPLA<\/scp>\u2010Affected Family: Clinical Course and Autopsy Findings in a Long\u2010Surviving Case"],"prefix":"10.1111","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9611-3717","authenticated-orcid":false,"given":"Yoko","family":"Mochizuki","sequence":"first","affiliation":[{"name":"Department of Neurology Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Arakawa","sequence":"additional","affiliation":[{"name":"Department of Neuropathology (Brain Bank for Aging Research) Tokyo Metropolitan Institute of Geriatrics and Gerontology  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miho","family":"Osako","sequence":"additional","affiliation":[{"name":"Department of Neurology Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7559-8284","authenticated-orcid":false,"given":"Tomoyasu","family":"Matsubara","sequence":"additional","affiliation":[{"name":"Department of Neuropathology (Brain Bank for Aging Research) Tokyo Metropolitan Institute of Geriatrics and Gerontology  Tokyo Japan"},{"name":"Department of Neurology Tokushima University Graduates School of Biomedical Sciences  Tokushima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomio","family":"Arai","sequence":"additional","affiliation":[{"name":"Department of Pathology Tokyo Metropolitan Institute of Geriatrics and Gerontology  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuko","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Neuropathology (Brain Bank for Aging Research) Tokyo Metropolitan Institute of Geriatrics and Gerontology  Tokyo 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