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Conversion disorder in women with the FMR1 premutation
Author(s) -
Seritan Andreea L.,
Schneider Andrea,
Olichney John M.,
Leehey Maureen A.,
Akins R. Scott,
Hagerman Randi J.
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33054
Subject(s) - fmr1 , ataxia , fragile x syndrome , depression (economics) , anxiety , medicine , fibromyalgia , peripheral neuropathy , fragile x , psychiatry , pediatrics , psychology , endocrinology , genetics , biology , gene , macroeconomics , economics , diabetes mellitus
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.