A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes

D Z Loesch; M Cook; Lucas Litewka; E Gould; A Churchyard; F Tassone; H R Slater; E Storey

doi:10.1136/jmg.2007.054171

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Letter/Communication

A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes

D Z Loesch, M Cook, Lucas Litewka, E Gould, A Churchyard, F Tassone, H R Slater and E Storey

Journal of Medical Genetics, Vol.45(3), pp.179-181

2008

DOI: https://doi.org/10.1136/jmg.2007.054171

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Abstract

fragile X mental retardation protein

Fragile X-associated tremor/ataxia (FXTAS) is a late onset disorder caused by a premutation in the FMR1 gene, in which neurological symptoms are associated with white matter (wm) changes, especially within the middle cerebellar peduncles (MCP sign), seen on magnetic resonance images (MRIs). We report a discrepancy between obvious radiological presentations and minimal clinical involvement in two younger male premutation carriers. These carriers, aged 52 and 39 years, showed distinct MCP sign, but reported no neurological symptoms. If this discrepancy represents the initial stage of FXTAS, our findings suggest the possibility of early diagnosis from MRI scans.

Details

Title: A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes
Authors: D Z Loesch (Author) - La Trobe University
M Cook (Author) - University of Melbourne
Lucas Litewka (Author) - University of Melbourne
E Gould (Author) - La Trobe University
A Churchyard (Author) - Southern Health Network
F Tassone (Author) - University of California, United States
H R Slater (Author) - Royal Children's Hospital Victoria
E Storey (Author) - Monash University
Publication details: Journal of Medical Genetics, Vol.45(3), pp.179-181
Publisher: B M J Group
Date published: 2008
DOI: 10.1136/jmg.2007.054171
ISSN: 0022-2593
Organisation Unit: UniSC Clinical Trials Centre; University of the Sunshine Coast, Queensland
Language: English
Record Identifier: 99450077502621
Output Type: Letter/Communication

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Collaboration types: Domestic collaboration; International collaboration
Web Of Science research areas: Genetics & Heredity