{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T05:30:26Z","timestamp":1761975026882},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2008,2,1]],"date-time":"2008-02-01T00:00:00Z","timestamp":1201824000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>While an established protocol exists for diagnosing individuals with the fragile X\u2010associated tremor\/ataxia syndrome (FXTAS), a quantitative measure of tremor and ataxia is needed. Using the CATSYS system to quantify movement abnormalities, we were able to record tremor, postural sway, manual (hand and finger) coordination, and reaction time in males with the <jats:italic>FMR1<\/jats:italic> premutation, both with and without FXTAS, and compare them to controls. We evaluated 16 males diagnosed with FXTAS, 16 males with the premutation without FXTAS (non\u2010FXTAS), and 14 age\u2010matched controls. The CATSYS system detected, in the dominant hand, a difference in intention tremor between the FXTAS group and controls (<jats:italic>P<\/jats:italic>\u2009=\u20090.0008). The 30\u2010sec postural sway tasks revealed differences between the FXTAS group and controls, both with eyes open and closed (<jats:italic>P<\/jats:italic>\u2009=\u20090.0004 and <jats:italic>P<\/jats:italic>\u2009=\u20090.0031, respectively). There was also a difference between FXTAS and non\u2010FXTAS 30\u2010sec postural sway performances with eyes open (<jats:italic>P<\/jats:italic>\u2009=\u20090.0008). The 10\u2010sec postural sway tasks (with eyes closed) served to confirm the differences between the FXTAS group and both the controls (<jats:italic>P<\/jats:italic>\u2009=\u20090.0017) and non\u2010FXTAS premutation carriers (<jats:italic>P<\/jats:italic>\u2009=\u20090.0016). These results demonstrate that the quantitative measures of the CATSYS system can document significant differences in intention tremor and postural sway in patients with FXTAS compared to controls. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32211","type":"journal-article","created":{"date-parts":[[2008,2,2]],"date-time":"2008-02-02T01:46:27Z","timestamp":1201916787000},"page":"629-635","source":"Crossref","is-referenced-by-count":26,"title":["A quantitative assessment of tremor and ataxia in <i>FMR1<\/i> premutation carriers using CATSYS"],"prefix":"10.1002","volume":"146A","author":[{"given":"Dalila","family":"Aguilar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn 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J.","family":"Hagerman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000269781.10417.7b"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21493"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000239837.57475.3a"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bandc.2004.08.020"},{"key":"e_1_2_6_6_1","first-page":"725","article-title":"Standardization of a neuromotor test battery: The CATSYS system","volume":"21","author":"Despres C","year":"2000","journal-title":"Neurotoxicology"},{"key":"e_1_2_6_7_1","first-page":"153","volume-title":"Recent developments in Parkinson's disease","author":"Fahn S","year":"1987"},{"key":"e_1_2_6_8_1","first-page":"225","volume-title":"Parkinson' disease and movement 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