FRAXE intermediate alleles are associated with Parkinson's disease.
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.
Annesi
Grazia
G
Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.
Nicoletti
Giuseppe
G
Tarantino
Patrizia
P
Cutuli
Nunzio
N
Annesi
Ferdinanda
F
Marco
Elvira Valeria De
EV
Zappia
Mario
M
Morgante
Letterio
L
Arabia
Gennarina
G
Pugliese
Pierfrancesco
P
Condino
Francesca
F
Carrideo
Sara
S
Civitelli
Donatella
D
Caracciolo
Manuela
M
Romeo
Nelide
N
Spadafora
Patrizia
P
Candiano
Innocenza Cirò
IC
Quattrone
Aldo
A
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
D004247:DNA