Premutations in the FMR1 gene as a modifying factor in Parkin‐associated Parkinson's disease?

Premutations in the FMR1 gene may be associated with some cases of parkinsonism. To test this hypothesis, we determined the CGG repeat number in FMR1 in 673 individuals with and without parkinsonism and detected 3 premutation carriers (2 patients, 1 control). Of note, 1 of the affected premutation carriers had a heterozygous Parkin mutation. © 2005 Movement Disorder Society

[1]  M. Farrer,et al.  Parkinsonism, FXTAS, and FMR1 premutations , 2005, Movement disorders : official journal of the Movement Disorder Society.

[2]  Christine Klein,et al.  Brain parenchyma sonography detects preclinical parkinsonism , 2004, Movement disorders : official journal of the Movement Disorder Society.

[3]  T. Gilliam,et al.  Screen for expanded FMR1 alleles in patients with essential tremor , 2004, Movement disorders : official journal of the Movement Disorder Society.

[4]  E. Tan,et al.  Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort , 2004, Neurology.

[5]  P. Hagerman,et al.  The fragile-X premutation: a maturing perspective. , 2004, American journal of human genetics.

[6]  C. Tzeng,et al.  Original article pilot screening for fragile X carrier in pregnant women of southern Taiwan. , 2003, Journal of the Chinese Medical Association : JCMA.

[7]  S. Lévesque,et al.  Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. , 2002, Human molecular genetics.

[8]  W D Heiss,et al.  Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial Parkinsonism associated with mutations in the Parkin gene , 2001, Annals of neurology.

[9]  É. Khandjian,et al.  Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome. , 1995, American journal of human genetics.

[10]  S. Knight,et al.  Molecular heterogeneity of the fragile X syndrome. , 1991, Nucleic acids research.

[11]  W. Gibb,et al.  A comparison of clinical and pathological features of young‐ and old‐onset Parkinson's disease , 1988, Neurology.

[12]  D. Munoz Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. , 2002, Neurology.