title: FRAXE intermediate alleles are associated with Parkinson's disease.
abstract: There is evidence that male subjects with a clinical picture of action tremor, Parkinsonism, and cerebellar ataxia may have Fragile X premutations (FRAXA). We analyzed FRAXA and FRAXE triplet repeats in 203 male subjects with Parkinson's disease (PD) and 370 healthy controls. No full mutations or premutations at the FRAXA and FRAXE loci were found in the subjects with PD or in the controls. FRAXA allele distribution was similar in patients and controls. FRAXE intermediate alleles (31-60 repeats CCG) were found in 13 of 203 (6.4%) subjects with PD and in only one of the 370 (0.27%) healthy controls (P < 0.001), thus indicating that these relatively large alleles may be associated with PD.
authors.affiliation: Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.
authors.forename: Grazia
authors.initials: G
authors.lastname: Annesi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Nicoletti
authors.forename: Patrizia
authors.initials: P
authors.lastname: Tarantino
authors.forename: Nunzio
authors.initials: N
authors.lastname: Cutuli
authors.forename: Ferdinanda
authors.initials: F
authors.lastname: Annesi
authors.forename: Elvira Valeria De
authors.initials: EV
authors.lastname: Marco
authors.forename: Mario
authors.initials: M
authors.lastname: Zappia
authors.forename: Letterio
authors.initials: L
authors.lastname: Morgante
authors.forename: Gennarina
authors.initials: G
authors.lastname: Arabia
authors.forename: Pierfrancesco
authors.initials: P
authors.lastname: Pugliese
authors.forename: Francesca
authors.initials: F
authors.lastname: Condino
authors.forename: Sara
authors.initials: S
authors.lastname: Carrideo
authors.forename: Donatella
authors.initials: D
authors.lastname: Civitelli
authors.forename: Manuela
authors.initials: M
authors.lastname: Caracciolo
authors.forename: Nelide
authors.initials: N
authors.lastname: Romeo
authors.forename: Patrizia
authors.initials: P
authors.lastname: Spadafora
authors.forename: Innocenza Cirò
authors.initials: IC
authors.lastname: Candiano
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D041321:Chromosomes, Human, X / Q000235:genetics; D004247:DNA / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D005600:Fragile X Syndrome / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010300:Parkinson Disease / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics / Q000502:physiology
chemical_list: D004247:DNA