Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease

Deborah A. Hall, Katherine Howard, Randi J Hagerman, Maureen A. Leehey

Research output: Contribution to journalArticlepeer-review

46 Scopus citations


Premutation carriers of repeat expansions in the fragile X mental retardation (FMR1) gene develop kinetic tremor and ataxia or the 'fragile X associated tremor/ataxia syndrome' (FXTAS). Affected FMR1 premutation carriers also have parkinsonism, but have not been reported to meet criteria for Parkinson disease. This case series illustrates that some patients who are FMR1 premutation carriers may appear by history and examination to have idiopathic Parkinson disease. Based on previous studies, it is likely that the genetic mutation and parkinsonism are associated. Although screening all PD patients is likely to be low yield, genetic testing of FMR1 in individuals with PD and a family history of fragile X syndrome, autism or developmental delay, or other related FMR1 phenotypes is warranted.

Original languageEnglish (US)
Pages (from-to)156-159
Number of pages4
JournalParkinsonism and Related Disorders
Issue number2
StatePublished - Feb 2009


  • Fragile X associated tremor/ataxia syndrome
  • Fragile X mental retardation gene
  • Parkinson disease
  • Parkinsonism

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Clinical Neurology
  • Neurology


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