Open AccessFragile X-associated neuropsychiatric disorders: a case report
Author(s) -
Maria Melinda G Tan,
Jeanne Barbara S Dy,
María Jimena SalcedoArellano,
Flora Tassone,
Randi J. Hagerman
Publication year - 2019
Publication title -
future neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.419
H-Index - 32
eISSN - 1748-6971
pISSN - 1479-6708
DOI - 10.2217/fnl-2018-0040
Subject(s) - fragile x syndrome , fragile x , fmr1 , ataxia , intellectual disability , psychiatry , medicine , movement disorders , trinucleotide repeat expansion , psychology , genetics , gene , biology , disease , allele
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.
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