FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients.
Parkinsonism Relat Disord
; 16(9): 608-11, 2010 Nov.
Article
in En
| MEDLINE
| ID: mdl-20702130
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]ß-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).
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Dopamine
/
Trinucleotide Repeat Expansion
/
Parkinsonian Disorders
/
Fragile X Mental Retardation Protein
Limits:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Language:
En
Journal:
Parkinsonism Relat Disord
Journal subject:
NEUROLOGIA
Year:
2010
Document type:
Article
Affiliation country:
United States
Publication country:
ENGLAND
/
ESCOCIA
/
GB
/
GREAT BRITAIN
/
INGLATERRA
/
REINO UNIDO
/
SCOTLAND
/
UK
/
UNITED KINGDOM