Conversion disorder in women with the FMR1 premutation

Women with fragile X mental retardation (FMR1) gene premutations (55–200 CGG repeats) were until recently believed to be unaffected. It is now known that up to 8% of older female FMR1 premutation carriers develop fragile X‐associated tremor/ataxia syndrome (FXTAS). Female carriers may also develop p...

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Veröffentlicht in:American journal of medical genetics. Part A 2009-11, Vol.149A (11), p.2501-2506
Hauptverfasser: Seritan, Andreea L., Schneider, Andrea, Olichney, John M., Leehey, Maureen A., Akins, R. Scott, Hagerman, Randi J.
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Sprache:eng
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Zusammenfassung:Women with fragile X mental retardation (FMR1) gene premutations (55–200 CGG repeats) were until recently believed to be unaffected. It is now known that up to 8% of older female FMR1 premutation carriers develop fragile X‐associated tremor/ataxia syndrome (FXTAS). Female carriers may also develop primary ovarian insufficiency, thyroid disease, hypertension, seizures, peripheral neuropathy, and fibromyalgia. We present a 60‐year‐old woman with FMR1 premutation who had depression, anxiety, and conversion disorder with seizures. The FMR1 premutation with its associated mRNA toxicity is postulated as an underlying neurobiological mechanism of conversion symptoms, through functional and structural neural dysconnectivity. © 2009 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.33054