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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Published inAmerican journal of medical genetics. Part A Vol. 149A; no. 11; pp. 2501 - 2506
Main Authors Seritan, Andreea L., Schneider, Andrea, Olichney, John M., Leehey, Maureen A., Akins, R. Scott, Hagerman, Randi J.
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.11.2009
Wiley-Liss
Subjects
Adult
Adult and adolescent clinical studies
Biological and medical sciences
Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...)
conversion
Conversion Disorder - genetics
Female
FMR1 premutation
Fragile X Mental Retardation Protein - genetics
Humans
Magnetic Resonance Imaging
Medical genetics
Medical sciences
Middle Aged
Mutation - genetics
psychogenic nonepileptic seizures
Psychology. Psychoanalysis. Psychiatry
Psychopathology. Psychiatry
Somatoform disorders. Psychosomatics
Human
Chromosome fragility
FMRI premutation
Somatoform disorder
psychogenic nonepileptic seizures
Adult
Somatic conversion
Female
Psychogenic nonepileptic seizure
Fragile X syndrome
Woman
conversion
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Summary: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.
Bibliography:How to cite this article: Seritan AL, Schneider A, Olichney JM, Leehey MA, Akins RS, Hagerman RJ. 2009. Conversion disorder in women with the
premutation. Am J Med Genet Part A 149A:2501–2506.
FMR1
Parts of this work were presented in poster format at the 2nd International Conference on Psychogenic Movement Disorders and Other Conversion Disorders, Washington, D.C., April 2009.
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.33054