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

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 (...

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Bibliographic Details
Published in:Parkinsonism & related disorders 2010-11, Vol.16 (9), p.608-611
Main Authors: Hall, D.A, Jennings, D, Seibyl, J, Tassone, F, Marek, K
Format: Article
Language:English
Subjects:
Aged
Cocaine - analogs & derivatives
Corpus Striatum - diagnostic imaging
Dopamine
Dopamine - deficiency
Female
FMR1
Fragile X Mental Retardation Protein - genetics
FXTAS
Humans
Male
Middle Aged
Neurology
Parkinsonian Disorders - diagnostic imaging
Parkinsonian Disorders - genetics
Parkinsonian Disorders - metabolism
Parkinsonian Disorders - pathology
Parkinsonism
SPECT
Tomography, Emission-Computed, Single-Photon - methods
Trinucleotide Repeat Expansion - genetics
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Summary: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).
ISSN:1353-8020
1873-5126
DOI:10.1016/j.parkreldis.2010.07.006