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Parkinsonism, FXTAS, and FMR1 premutations
Author(s) -
Toft Mathias,
Aasly Jan,
Bisceglio Gina,
Adler Charles H.,
Uitti Ryan J.,
KrygowskaWajs Anna,
Lynch Timothy,
Wszolek Zbigniew K.,
Farrer Matthew J.
Publication year - 2005
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20297
Subject(s) - fmr1 , parkinsonism , ataxia , fragile x syndrome , allele , trinucleotide repeat expansion , fragile x , degenerative disease , medicine , pediatrics , central nervous system disease , genetics , disease , psychiatry , biology , gene
The presence of late‐onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptoms in this fragile X–associated tremor/ataxia syndrome (FXTAS) is parkinsonism. To test the possible association between expanded FMR1 alleles and Parkinson's disease (PD), we determined the size of the FMR1 CGG repeat in 414 male cases of clinically diagnosed parkinsonism, the majority of whom had PD. None of our patients had expanded FMR1 repeats within the premutation range (55–200 CGG repeats). Five patients (1.2%) carry intermediate‐size alleles (41–54 CGG repeats). Expansions within the FMR1 gene are not associated with PD in our study. © 2004 Movement Disorder Society