Fragile X-Associated neuropsychiatric disorders: A case report

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.