{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T23:48:23Z","timestamp":1791416903686,"version":"4.3.3"},"reference-count":7,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,10,25]],"date-time":"2005-10-25T00:00:00Z","timestamp":1130198400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2006,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A new tremor\u2013ataxia syndrome, fragile X\u2013associated tremor\/ataxia syndrome (FXTAS), has been described among carriers of premutation expansions (55\u2013200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The prevalence of FMR1 premutation alleles has been reported to be 1 in 813 among men. Patients with FXTAS may also have features of parkinsonism. Postmortem findings have been described in eight patients with FXTAS and detailed descriptions of the pathological features of this syndrome have been published in two of these. We present a detailed description of the postmortem findings in a third patient. The patient had parkinsonism and was a carrier of a premutation expansion in the FMR1 gene. As in previous reports, the most prominent finding was the presence of eosinophilic nuclear inclusions in neurons and astrocytes, loss of Purkinje cells, and regional vacuolation of the cerebral white matter. As in one previous report, nuclear inclusions were also present in ependymal and choroid plexus cells. A new finding is that of nuclear inclusions in both the adeno\u2010 and neurohypophysis. These findings confirm the diffuse nature of this pathology. Further studies of clinical\u2013pathological correlation in a larger sample of brains would provide additional insight into the mechanisms of the tremor, ataxia, and parkinsonism in these patients. \u00a9 2005 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.20753","type":"journal-article","created":{"date-parts":[[2005,10,25]],"date-time":"2005-10-25T19:46:53Z","timestamp":1130269613000},"page":"420-425","source":"Crossref","is-referenced-by-count":64,"title":["Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: A clinical\u2013pathological study"],"prefix":"10.1002","volume":"21","author":[{"given":"Elan","family":"Louis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol","family":"Moskowitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Friez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Amaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Paul G.","family":"Vonsattel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,3,9]]},"reference":[{"key":"e_1_2_13_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.1.127"},{"key":"e_1_2_13_3_2","first-page":"25","article-title":"Fragile X\u2013associated tremor\/ataxia syndrome (FXTAS)","volume":"10","author":"Hagerman PJ","year":"2004","journal-title":"MRDD Res Rev"},{"key":"e_1_2_13_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.4.371"},{"key":"e_1_2_13_5_2","doi-asserted-by":"publisher","DOI":"10.1086\/374321"},{"key":"e_1_2_13_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awf184"},{"key":"e_1_2_13_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.012518"},{"issue":"1","key":"e_1_2_13_8_2","first-page":"A469","article-title":"Fragile X\u2013associated tremor\/ataxia syndrome (FXTAS): a common heritable neuronal inclusion disorder","volume":"60","author":"Hagerman PJ","year":"2003","journal-title":"Neurology"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.20753","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.20753","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T11:17:49Z","timestamp":1760959069000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.20753"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,3]]},"references-count":7,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2006,3]]}},"alternative-id":["10.1002\/mds.20753"],"URL":"https:\/\/doi.org\/10.1002\/mds.20753","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,3]]}}}