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) |
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Article number | FNL14 |
Journal | Future Neurology |
Volume | 14 |
Issue number | 2 |
DOIs | |
State | Published - Jan 1 2019 |
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