{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T20:35:10Z","timestamp":1768682110678,"version":"3.49.0"},"reference-count":32,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,6,3]],"date-time":"2019-06-03T00:00:00Z","timestamp":1559520000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Brain and Behavior"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>In screening studies of Western patients with cerebellar dysfunction, <jats:italic>FMR1<\/jats:italic> premutations have been detected. A screening study of East Asian patients with presumed essential tremor (ET) did not detect these mutations, possibly because the ET patients did not closely mimic the phenotype of fragile X\u2010associated tremor\/ataxia syndrome (FXTAS). The aim of this study was to estimate the prevalence of <jats:italic>FMR1<\/jats:italic> premutations in a carefully recruited group of ET patients with additional phenotypic features of FXTAS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>From April 2014 to April 2018, we prospectively recruited patients with ET diagnoses from three tertiary care centers. Demographic and clinical data were collected, as well as data on presence of cerebellar signs and extrapyramidal signs (EPS). Tremor, cerebellar signs, and EPS were evaluated using appropriate clinical rating scales. For ET patients with additional cerebellar signs or EPS, <jats:italic>FMR1<\/jats:italic> mutation analysis and brain magnetic resonance imaging were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Six hundred and three ET patients were recruited. Cerebellar signs or EPS were present in 168 (27.9%) of 603. <jats:italic>FMR1<\/jats:italic> CGG repeat analysis was performed in 74 of 168 patients. Fifty\u2010two of 74 had cerebellar signs only, three had EPS only, and 19 had both neurologic abnormalities. Two patients had a <jats:italic>FMR1<\/jats:italic> premutation and fulfiled both clinical and radiological criteria of FXTAS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Two (2.7%) of 74 patients with presumed ET and additional neurological features were discovered to have FXTAS. The possibility of FXTAS should be considered in patients with ET who exhibit mild cerebellar signs or EPS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/brb3.1337","type":"journal-article","created":{"date-parts":[[2019,6,3]],"date-time":"2019-06-03T22:38:03Z","timestamp":1559601483000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Prevalence of fragile X\u2010associated tremor\/ataxia syndrome: A survey of essential tremor patients with cerebellar signs or extrapyramidal signs"],"prefix":"10.1002","volume":"9","author":[{"given":"Ji\u2010Hyung","family":"Park","sequence":"first","affiliation":[{"name":"Department of Neurology, Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Republic of Korea"},{"name":"Neuroscience Center, Samsung Medical Center Seoul Republic of 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