FXTAS is rare among Portuguese patients with movement disorders
Author Information
Author(s): Seixas Ana I, Vale José, Jorge Paula, Marques Isabel, Santos Rosário, Alonso Isabel, Fortuna Ana M, Pinto-Basto Jorge, Coutinho Paula, Margolis Russell L, Sequeiros Jorge, Silveira Isabel
Primary Institution: UnIGENe, IBMC - Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal
Hypothesis
FMR1 premutations may be associated with a wider spectrum of phenotypes in Portuguese males with late-onset movement disorders.
Conclusion
Genetic testing for FXTAS should be made available to patients with adult-onset movement disorders to enable adequate genetic counseling to family members.
Supporting Evidence
- 1.9% of patients with ataxia had FMR1 premutations.
- 1.2% of the total sample had FMR1 premutations.
- Only one patient with FXTAS was identified in the study.
Takeaway
This study looked at older men in Portugal with movement problems to see if a specific gene change was causing their issues, and found it was quite rare.
Methodology
Patients were genotyped for CGG repeat size in the FMR1 gene using PCR and fragment analysis.
Limitations
The study only included males with late-onset movement disorders and may not represent the entire population.
Participant Demographics
86 male patients with late-onset movement disorders, average age 68 years.
Digital Object Identifier (DOI)
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