{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,10]],"date-time":"2026-05-10T07:13:46Z","timestamp":1778397226719,"version":"3.51.4"},"reference-count":39,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,8,29]],"date-time":"2002-08-29T00:00:00Z","timestamp":1030579200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2002,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The neuropathology of the primary dystonias is not well understood. We examined brains from identical twins with DYT1\u2010negative, dopa\u2010unresponsive dystonia. The twins exhibited mild developmental delays until age 12 years when they began developing rapidly progressive generalized dystonia. Genetic, metabolic, and imaging studies ruled out known causes of dystonia. Cognition was subnormal but stable until the last few years. Death occurred at ages 21 and 22 years. The brains were macroscopically unremarkable. Microscopic examination showed unusual glial fibrillary acidic protein\u2013immunoreactive astrocytes in multiple regions and iron accumulation in pallidal and nigral neurons. However, the most striking findings were 1) eosinophilic, rod\u2010like cytoplasmic inclusions in neocortical and thalamic neurons that were actin depolymerizing factor\/cofilin\u2010immunoreactive but only rarely actin\u2010positive; and 2) abundant eosinophilic spherical structures in the striatum that were strongly actin\u2010 and actin depolymerizing factor\/cofilin\u2010positive. Electron microscopy suggested that these structures represent degenerating neurons and processes; the accumulating filaments had the same dimensions as actin microfilaments. To our knowledge, aggregation of actin has not been reported previously as the predominant feature in any neurodegenerative disease. Thus, our findings may shed light on a novel neuropathological change associated with dystonia that may represent a new degenerative mechanism involving actin, a ubiquitous constituent of the cytoskeletal system.<\/jats:p>","DOI":"10.1002\/ana.10319","type":"journal-article","created":{"date-parts":[[2002,10,9]],"date-time":"2002-10-09T04:02:01Z","timestamp":1034136121000},"page":"465-476","source":"Crossref","is-referenced-by-count":37,"title":["Aggregation of actin and cofilin in identical twins with juvenile\u2010onset dystonia"],"prefix":"10.1002","volume":"52","author":[{"given":"Marla","family":"Gearing","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge L.","family":"Juncos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Procaccio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire\u2010Anne","family":"Gutekunst","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine M.","family":"Marino\u2010Rodriguez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kymberly A.","family":"Gyure","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shoichiro","family":"Ono","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Santoianni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas S.","family":"Krawiecki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Douglas C.","family":"Wallace","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruce H.","family":"Wainer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,8,29]]},"reference":[{"key":"e_1_2_6_2_2","series-title":"Advances in neurology (dystonia 3)","first-page":"1","author":"Fahn S","year":"1998"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneurpsyc.1933.02240110176007"},{"key":"e_1_2_6_4_2","first-page":"973","article-title":"Un cas anatomo\u2010clinique de dystonie contorsive spasmodique avec l\u00e9sions du striatum et des centres sous\u2010thalamiques","volume":"1","author":"Marinesco G","year":"1929","journal-title":"Rev Neurol"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02126521"},{"key":"e_1_2_6_6_2","first-page":"77","article-title":"Dystonia musculorum deformans. 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