Abstract
The authors studied four patients with parkinsonism carrying the fragile X premutation using SPECT with ([23)I]FP-CIT. They found evidence of preserved presynaptic nigrostriatal function, suggesting that parkinsonism in the X fragile premutation might be related to postsynaptic dopaminergic changes or different neurotransmitter alterations.
Publication types
-
Case Reports
-
Comparative Study
MeSH terms
-
Aged
-
Atrophy / diagnostic imaging
-
Atrophy / genetics
-
Atrophy / metabolism
-
Biomarkers
-
Brain / diagnostic imaging
-
Brain / metabolism*
-
Brain / physiopathology
-
Brain Mapping
-
Corpus Striatum / diagnostic imaging
-
Corpus Striatum / metabolism
-
Corpus Striatum / physiopathology
-
Dopamine / metabolism
-
Dopamine Plasma Membrane Transport Proteins / metabolism*
-
Female
-
Fragile X Syndrome / genetics*
-
Genetic Predisposition to Disease / genetics
-
Heterozygote*
-
Humans
-
Male
-
Middle Aged
-
Mutation / genetics
-
Neural Pathways / diagnostic imaging
-
Neural Pathways / metabolism
-
Neural Pathways / physiopathology
-
Parkinson Disease / diagnostic imaging
-
Parkinson Disease / genetics*
-
Parkinson Disease / metabolism*
-
Substantia Nigra / diagnostic imaging
-
Substantia Nigra / metabolism
-
Substantia Nigra / physiopathology
-
Synaptic Transmission / genetics
-
Syndrome
-
Tomography, Emission-Computed, Single-Photon
-
Tropanes
Substances
-
Biomarkers
-
Dopamine Plasma Membrane Transport Proteins
-
Tropanes
-
2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane
-
Dopamine