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.
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Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions.
Sci Rep
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Unidade de Genética Molecular, Centro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal.
Over 100 X-linked intellectual disability genes have been identified, with triplet repeat expansions at the FMR1 (FRAXA) and AFF2 (FRAXE) genes being the causative agent in two of them. The absence of FRAXE pathognomonic features hampers early recognition, delaying testing and molecular confirmation. Hence, our laboratory uses a multiplex PCR-based strategy to genotype both FRAXA and FRAXE.
View Article and Find Full Text PDFIntermediate alleles at the FRAXA and FRAXE loci in Parkinson's disease.
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May 2011
Departamento de Bioquímica Médica y Biología Molecular, Servicio de Biología Molecular, Hospital Universitario Virgen Macarena, Universidad de Sevilla, Av. Sánchez Pizjuán 4, Seville, Spain.
Background: It is debatable whether the size of triplet repeats of the fragile X mental retardation genes FMR1 and FMR2 (found at the FRAXA and FRAXE loci) is associated with Parkinson's disease (PD). The aims of the current study were to investigate the relationship between these genes and PD and to determine whether these genes affected clinical manifestations of PD.
Methods: We recruited 206 PD patients and 227 control subjects from southern Spain.
FRAXE intermediate alleles are associated with Parkinson's disease.
Neurosci Lett
September 2004
Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.
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.
View Article and Find Full Text PDFThe influence of expanded unmethylated alleles for FRAXA/FRAXE loci in the intellectual performance among Brazilian mentally impaired males.
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Departamento de Biologia Celular e Genética, Instituto de Biologia Roberto Alcântara Gomes, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil.
Both fragile X (FRAXA) syndrome and fragile XE (FRAXE) disorder are caused by an expansion of a polymorphic trinucleotide repeat and are associated with mental impairment. Based on the size and methylation status of the expansion, individuals are classified as having normal, intermediate, premutation or full mutation alleles. Unlike individuals with full mutations, carriers of intermediate and premutated alleles should not exhibit obvious clinical symptoms, since the FMR1 (FRAXA) or FMR2 (FRAXE) genes are not transcriptionally silenced.
View Article and Find Full Text PDF[Polymorphism of trinucleotide repeats at loci FRAXA and FRAXE in the population of Tomsk].
Genetika
February 2002
Institute of Medical Genetics, Tomsk Research Center, Russian Academy of Medical Sciences, Tomsk, 634050 Russia.
Polymorphism of CGG and GCC trinucleotide repeats, whose expansions at the FRAXA and FRAXE loci have been identified as causative mutations in two forms of mental retardation, was studied in Slavic population of Tomsk. At the FRAXA locus a total of 31 allelic variants ranging from 8 to 56 copies of CGG repeat with two modal classes of 28-29 and 18-20 repeat units (with the frequencies of 24.6 and 11.
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