Magnetic resonance imaging study in older fragile X premutation male carriers

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Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.3/72456

Title: Magnetic resonance imaging study in older fragile X premutation male carriers
Author(s): Loesch, Danuta Z.; Litewka, Lucas; Brotchie, Peter; Huggins, Richard M.; Tassone, Flora; Cook, Mark
Abstract: Some carriers of a 'premutation' allele of the FMR1 gene develop late-onset tremor/ataxia. We conducted a magnetic resonance imaging volumetric study in an unselected sample of eight older male premutation carriers. Volumetric measures, including total brain volume, and the volumes of cerebrum, cerebellum, and cerebral cortex all were significantly reduced in premutation carriers compared with similar data from 21 age-matched normal controls. Total brain and cerebral volumes were significantly related to the number of CGG repeats in the FMR1 gene. Moreover, increased hippocampal volume indicates this premutation may account for both neurodegenerative and neurodevelopmental changes.
Publication type: Journal article
Research centre: Swinburne University of Technology. Faculty of Life and Social Sciences. Brain Sciences Institute
Source: Annals of Neurology, Vol. 58, no. 2 (Aug 2005), pp. 326-330
Publication year: 2005
Keyword(s): Ataxia; Brain; Cerebral cortex; Cerebellum; FMR1 gene; Fragile X syndrome; FXTAS; Gene mutation; Hippocampus; Magnetic resonance imaging; MRI; RNA; Tremors
Publisher: Wiley-Liss
ISSN: 0364-5134
Publisher URL: http://dx.doi.org/10.1002/ana.20542
Peer reviewed