Abstract
Mutations in the FMR1 gene have been associated with developmental or neurodegenerative disorders. The full mutation (>200 CGG repeats) results in Fragile X syndrome, the most common inherited cause of intellectual disability, while the premutation (55-200 CGG repeats) can lead to a range of problems including fragile X-Associated tremor/ataxia syndrome (FXTAS). Recently, a new distinctive name was proposed to recognize the associated disorders commonly found in premutation carriers and extensively reported in co-morbidities studies: fragile X-Associated neuropsychiatric disorders (FXAND). This paper will present a case report of a female premutation carrier with a complex psychiatric history, chronic pain, and sleep disturbances consistent with Fragile X-Associated neuropsychiatric disorders.
| Original language | English (US) |
|---|---|
| Article number | FNL14 |
| Journal | Future Neurology |
| Volume | 14 |
| Issue number | 2 |
| DOIs | |
| State | Published - Jan 1 2019 |
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Keywords
- ADHD
- anxiety
- chronic pain
- depression
- FMR1
- Fragile X-Associated neuropsychiatric disorders
- FXAND
- premutation carrier
- psychiatric
- sleep disorders
ASJC Scopus subject areas
- Neurology
- Clinical Neurology
Cite this
Fragile X-Associated neuropsychiatric disorders : A case report. / G Tan, Maria Melinda; S Dy, Jeanne Barbara; Salcedo-Arellano, Maria Jimena; Tassone, Flora; Hagerman, Randi J.
In: Future Neurology, Vol. 14, No. 2, FNL14, 01.01.2019.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Fragile X-Associated neuropsychiatric disorders
T2 - A case report
AU - G Tan, Maria Melinda
AU - S Dy, Jeanne Barbara
AU - Salcedo-Arellano, Maria Jimena
AU - Tassone, Flora
AU - Hagerman, Randi J
PY - 2019/1/1
Y1 - 2019/1/1
N2 - Mutations in the FMR1 gene have been associated with developmental or neurodegenerative disorders. The full mutation (>200 CGG repeats) results in Fragile X syndrome, the most common inherited cause of intellectual disability, while the premutation (55-200 CGG repeats) can lead to a range of problems including fragile X-Associated tremor/ataxia syndrome (FXTAS). Recently, a new distinctive name was proposed to recognize the associated disorders commonly found in premutation carriers and extensively reported in co-morbidities studies: fragile X-Associated neuropsychiatric disorders (FXAND). This paper will present a case report of a female premutation carrier with a complex psychiatric history, chronic pain, and sleep disturbances consistent with Fragile X-Associated neuropsychiatric disorders.
AB - Mutations in the FMR1 gene have been associated with developmental or neurodegenerative disorders. The full mutation (>200 CGG repeats) results in Fragile X syndrome, the most common inherited cause of intellectual disability, while the premutation (55-200 CGG repeats) can lead to a range of problems including fragile X-Associated tremor/ataxia syndrome (FXTAS). Recently, a new distinctive name was proposed to recognize the associated disorders commonly found in premutation carriers and extensively reported in co-morbidities studies: fragile X-Associated neuropsychiatric disorders (FXAND). This paper will present a case report of a female premutation carrier with a complex psychiatric history, chronic pain, and sleep disturbances consistent with Fragile X-Associated neuropsychiatric disorders.
KW - ADHD
KW - anxiety
KW - chronic pain
KW - depression
KW - FMR1
KW - Fragile X-Associated neuropsychiatric disorders
KW - FXAND
KW - premutation carrier
KW - psychiatric
KW - sleep disorders
UR - http://www.scopus.com/inward/record.url?scp=85066801720&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85066801720&partnerID=8YFLogxK
U2 - 10.2217/fnl-2018-0040
DO - 10.2217/fnl-2018-0040
M3 - Article
VL - 14
JO - Future Neurology
JF - Future Neurology
SN - 1479-6708
IS - 2
M1 - FNL14
ER -