title: Screening for the presence of FMR1 premutation alleles in women with fibromyalgia.
abstract: Fibromyalgia is a chronic condition characterized by widespread pain, fatigue, non-restorative sleep and cognitive difficulties that affects 2-4% of the general population. Recently a possible relationship between the FMR1 premutation and fibromyalgia has been pointed out. In attempt to gather more data we screened for the FMR1 CGG expansion 700 DNA samples from unrelated fibromyalgia patients. This data might be useful for evaluating the incorporation of this test in rheumatologic procedures for women with fibromyalgia. The observed frequency of FMR1 premutation carriers (3 of 700, 0.4%) is not significantly different from the estimated rate in the general female population (1/250-1/400) (P=0.539, P=0.716). Clinical examination of the FMR1 premutation carriers identified revealed that all of them had important neurological symptoms with regard to muscular symptoms, neurocognitive alterations and neurovegetative impairments. With regard to other clinical aspects of the disease the cases apparently did not differ from the average fibromyalgia patients. On the basis of our results an FMR1 screening among fibromyalgia female patients would not be recommended. However it would be worthwhile to further evaluate the different clinical presentations that fibromyalgia patients might present based on their FMR1 premutation carrier status.
authors.affiliation: Biochemistry and Molecular Genetics Department, Hospital Clínic, Barcelona, Spain.
authors.forename: Laia
authors.initials: L
authors.lastname: Rodriguez-Revenga
authors.forename: Irene
authors.initials: I
authors.lastname: Madrigal
authors.forename: Josep
authors.initials: J
authors.lastname: Blanch-Rubió
authors.forename: Dei M
authors.initials: DM
authors.lastname: Elurbe
authors.forename: Elisa
authors.initials: E
authors.lastname: Docampo
authors.forename: Antonio
authors.initials: A
authors.lastname: Collado
authors.forename: Javier
authors.initials: J
authors.lastname: Vidal
authors.forename: Jordi
authors.initials: J
authors.lastname: Carbonell
authors.forename: Xavier
authors.initials: X
authors.lastname: Estivill
authors.forename: Montserrat
authors.initials: M
authors.lastname: Mila
mesh_terms: D000328:Adult; D000483:Alleles; D005260:Female; D005356:Fibromyalgia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008875:Middle Aged; D009154:Mutation
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human