Abstract
Objective: We evaluated patients with fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder associated with a CGG repeat expansion in the premutation range in the fragile X mental retardation 1 (FMR1) gene. Methods: Neurological, psychiatric and neuropsychological evaluations were performed on 15 male patients with FXTAS. Results: Seven cases were diagnosed with dementia, and seven others were diagnosed with mood and/or anxiety disorders. Twelve subjects demonstrated deficits on neuropsychological testing. Conclusions: Physicians assessing dementia patients are urged to consider this newly described syndrome, especially in patients with dementia associated with a movement disorder and in those with a family history of mental retardation. If FXTAS is a possible diagnosis, physicians may carry out FMR1 DNA testing; patients who test positive on DNA testing should undergo magnetic resonance imaging, be referred to neurology and receive genetic counseling.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 349-356 |
| Number of pages | 8 |
| Journal | General Hospital Psychiatry |
| Volume | 29 |
| Issue number | 4 |
| DOIs | |
| State | Published - Jul 2007 |
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Keywords
- Anxiety disorder
- Dementia
- Fragile X premutation
- FXTAS
- Mood disorder
ASJC Scopus subject areas
- Emergency Medicine
- Medicine(all)
- Psychiatry and Mental health
Cite this
Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome. / Bourgeois, James A.; Cogswell, Jennifer B.; Hessl, David R; Zhang, Lin; Ono, Michele Y.; Tassone, Flora; Farzin, Faraz; Brunberg, James A; Grigsby, Jim; Hagerman, Randi J.
In: General Hospital Psychiatry, Vol. 29, No. 4, 07.2007, p. 349-356.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome
AU - Bourgeois, James A.
AU - Cogswell, Jennifer B.
AU - Hessl, David R
AU - Zhang, Lin
AU - Ono, Michele Y.
AU - Tassone, Flora
AU - Farzin, Faraz
AU - Brunberg, James A
AU - Grigsby, Jim
AU - Hagerman, Randi J
PY - 2007/7
Y1 - 2007/7
N2 - Objective: We evaluated patients with fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder associated with a CGG repeat expansion in the premutation range in the fragile X mental retardation 1 (FMR1) gene. Methods: Neurological, psychiatric and neuropsychological evaluations were performed on 15 male patients with FXTAS. Results: Seven cases were diagnosed with dementia, and seven others were diagnosed with mood and/or anxiety disorders. Twelve subjects demonstrated deficits on neuropsychological testing. Conclusions: Physicians assessing dementia patients are urged to consider this newly described syndrome, especially in patients with dementia associated with a movement disorder and in those with a family history of mental retardation. If FXTAS is a possible diagnosis, physicians may carry out FMR1 DNA testing; patients who test positive on DNA testing should undergo magnetic resonance imaging, be referred to neurology and receive genetic counseling.
AB - Objective: We evaluated patients with fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder associated with a CGG repeat expansion in the premutation range in the fragile X mental retardation 1 (FMR1) gene. Methods: Neurological, psychiatric and neuropsychological evaluations were performed on 15 male patients with FXTAS. Results: Seven cases were diagnosed with dementia, and seven others were diagnosed with mood and/or anxiety disorders. Twelve subjects demonstrated deficits on neuropsychological testing. Conclusions: Physicians assessing dementia patients are urged to consider this newly described syndrome, especially in patients with dementia associated with a movement disorder and in those with a family history of mental retardation. If FXTAS is a possible diagnosis, physicians may carry out FMR1 DNA testing; patients who test positive on DNA testing should undergo magnetic resonance imaging, be referred to neurology and receive genetic counseling.
KW - Anxiety disorder
KW - Dementia
KW - Fragile X premutation
KW - FXTAS
KW - Mood disorder
UR - http://www.scopus.com/inward/record.url?scp=34250750659&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=34250750659&partnerID=8YFLogxK
U2 - 10.1016/j.genhosppsych.2007.03.003
DO - 10.1016/j.genhosppsych.2007.03.003
M3 - Article
C2 - 17591512
AN - SCOPUS:34250750659
VL - 29
SP - 349
EP - 356
JO - General Hospital Psychiatry
JF - General Hospital Psychiatry
SN - 0163-8343
IS - 4
ER -