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Parkinsonism Relat Disord. 2010 Nov;16(9):608-11. doi: 10.1016/j.parkreldis.2010.07.006. Epub 2010 Aug 11.

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

Author information

  • 1Department of Neurological Sciences, Rush University, Chicago, IL 60612, USA. Deborah_A_Hall@rush.edu

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 [(123)I]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).

Copyright © 2010 Elsevier Ltd. All rights reserved.

PMID:
20702130
[PubMed - indexed for MEDLINE]
PMCID:
PMC2963704
Free PMC Article
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