FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients

D. A. Hall, D. Jennings, J. Seibyl, Flora Tassone, K. Marek

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

Abstract

Purpose: To determine if patients with parkinsonism and fragile X mental retardation 1 (FMR1) gene expansions have a striatal dopamine deficit similar to Parkinson disease (PD) patients. Scope: The authors studied three patients with parkinsonism carrying small expansions in the FMR1 gene (41-60 CGG) with [123I]β-CIT SPECT imaging. The patients responded to dopaminergic medications, but had preserved dopamine transporter density. Conclusions: These results suggest that parkinsonism associated with smaller FMR1 expansions may be related to mechanisms other than pre-synaptic dopaminergic changes and may represent a potential explanation for at least some parkinsonian cases with scans without evidence of dopaminergic deficits (SWEDD).

Original languageEnglish (US)
Pages (from-to)608-611
Number of pages4
JournalParkinsonism and Related Disorders
Volume16
Issue number9
DOIs
StatePublished - Nov 2010

Keywords

  • Dopamine
  • FMR1
  • FXTAS
  • Parkinsonism
  • SPECT

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Clinical Neurology
  • Neurology

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