{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T21:32:14Z","timestamp":1782509534491,"version":"3.54.5"},"reference-count":37,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2011,4,11]],"date-time":"2011-04-11T00:00:00Z","timestamp":1302480000000},"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":[[2011,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Older male premutation carriers of the <jats:italic>FMR1<\/jats:italic> gene are associated with the risk of developing a late\u2010onset neurodegenerative disorder, fragile X\u2013associated tremor\/ataxia syndrome. Although previous postmortem and in vivo magnetic resonance imaging studies have indicated white matter pathology, the regional selectivity of abnormalities, as well as their relationship with molecular variables of the <jats:italic>FMR1<\/jats:italic> gene, has not been investigated. In this study, we used diffusion tensor imaging to study male premutation carriers with and without fragile X\u2013associated tremor\/ataxia syndrome and healthy sex\u2010matched controls. We performed a tract of interest analysis for fractional anisotropy and axial and radial diffusivities of major white matter tracts in the cerebellar\u2013brain stem and limbic systems. Compared with healthy controls, patients with fragile X\u2013associated tremor\/ataxia syndrome showed significant reductions of fractional anisotropy in multiple white matter tracts, including the middle cerebellar peduncle, superior cerebellar peduncle, cerebral peduncle, and the fornix and stria terminalis. Significant reduction of fractional anisotropy in these tracts was confirmed by voxel\u2010wise analysis using tract\u2010based spatial statistics. Analysis of axial and radial diffusivities showed significant elevation of these measures in middle cerebellar peduncle, even among premutation carriers without fragile X\u2013associated tremor\/ataxia syndrome. Furthermore, regression analyses demonstrated a clear inverted U\u2010shaped relationship between CGG\u2010repeat size and axial and radial diffusivities in middle cerebellar peduncle. These results provide new evidence from diffusion tensor imaging for white matter abnormalities in the cerebellar\u2013brain stem and limbic systems among individuals with the fragile X premutation and suggest the involvement of molecular mechanisms related to the <jats:italic>FMR1<\/jats:italic> gene in their white matter pathology. \u00a9 2011 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.23646","type":"journal-article","created":{"date-parts":[[2011,4,12]],"date-time":"2011-04-12T01:42:07Z","timestamp":1302572527000},"page":"1329-1336","source":"Crossref","is-referenced-by-count":69,"title":["Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation 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