Tremor/ataxia syndrome and fragile X premutation: Diagnostic caveats

D Z Loesch; Lucas Litewka; A Churchyard; E Gould; F Tassone; M Cook

doi:10.1016/j.jocn.2006.01.015

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Tremor/ataxia syndrome and fragile X premutation: Diagnostic caveats

Journal article

Peer reviewed

Tremor/ataxia syndrome and fragile X premutation: Diagnostic caveats

D Z Loesch, Lucas Litewka, A Churchyard, E Gould, F Tassone and M Cook

Journal of Clinical Neuroscience, Vol.14(3), pp.245-248

2007

DOI: https://doi.org/10.1016/j.jocn.2006.01.015

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Abstract

fragile X

FMR1 premutation carriers

tremor/ataxia

magnetic resonance imaging

neurodegeneration

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly discovered late-onset neurodegenerative disorder caused by a premutation in the FMR1 X-linked gene. We present examples of a discrepancy between obvious brain changes observed on MRI, and minimal clinical neurological manifestations in three older carriers of this premutation. This discrepancy occurred in three of nine carriers ascertained in an unbiased manner. If the systematic follow-up studies of adult carriers confirm this trend, this will have an impact on early diagnosis of neurological involvement and possible prevention. If MRI changes precede clinical manifestation of FXTAS this may explain the low detection rate of fragile X carriers among patients with neurological syndromes associated with tremor/ataxia. © 2006 Elsevier Ltd. All rights reserved.

Details

Title: Tremor/ataxia syndrome and fragile X premutation: Diagnostic caveats
Authors: D Z Loesch (Author) - La Trobe University
Lucas Litewka (Author) - University of Melbourne
A Churchyard (Author) - Southern Health Network
E Gould (Author) - La Trobe University
F Tassone (Author) - University of California, United States
M Cook (Author) - University of Melbourne
Publication details: Journal of Clinical Neuroscience, Vol.14(3), pp.245-248
Publisher: Churchill Livingstone
Date published: 2007
DOI: 10.1016/j.jocn.2006.01.015
ISSN: 0967-5868
Organisation Unit: UniSC Clinical Trials Centre; University of the Sunshine Coast, Queensland
Language: English
Record Identifier: 99449400402621
Output Type: Journal article

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