Magnetic resonance imaging study in older fragile X premutation male carriers

D Z Loesch; Lucas Litewka; P Brotchie; R M Huggins; F Tassone; M Cook

doi:10.1002/ana.20542

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Magnetic resonance imaging study in older fragile X premutation male carriers

Journal article

Peer reviewed

Magnetic resonance imaging study in older fragile X premutation male carriers

D Z Loesch, Lucas Litewka, P Brotchie, R M Huggins, F Tassone and M Cook

Annals of Neurology, Vol.58(2), pp.326-330

2005

DOI: https://doi.org/10.1002/ana.20542

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Abstract

fragile X mental retardation protein

adult

aged

ataxia

brain cortex

brain size

cerebellum

controlled study

fragile X syndrome

gene mutation

heterozygote

hippocampus

human

major clinical study

male

nerve cell degeneration

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. © 2005 American Neurological Association.

Details

Title: Magnetic resonance imaging study in older fragile X premutation male carriers
Authors: D Z Loesch (Author) - La Trobe University
Lucas Litewka (Author) - University of Melbourne
P Brotchie (Author) - Swinburne University
R M Huggins (Author) - Australian National University
F Tassone (Author) - University of California, United States
M Cook (Author) - University of Melbourne
Publication details: Annals of Neurology, Vol.58(2), pp.326-330
Publisher: John Wiley & Sons Inc.
Date published: 2005
DOI: 10.1002/ana.20542
ISSN: 0364-5134
Organisation Unit: UniSC Clinical Trials Centre; University of the Sunshine Coast, Queensland
Language: English
Record Identifier: 99449332102621
Output Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Web Of Science research areas: Clinical Neurology; Neurosciences