The fragile X premutation is caused by an expansion of 55 to 200 repeats of the trinucleotide element (CGG)n located in the 5= UTR of the fragile X mental retardation 1 (FMR1) gene. A syndrome characterized by tremor, parkinsonism, and ataxia (FXTAS) has been described in association with the fragile X premutation.1,2 The prevalence of such a premutation in groups of patients affected by movement disorders needs to be clarified.3-8 In this study, we investigated nigrostriatal dopaminergic function in vivo using dopamine transporter (DAT) imaging in four patients who were carriers of the fragile X premutation with clinical parkinsonism.
|Autori:||CERAVOLO R; ANTONINI A; VOLTERRANI D; ROSSI C; GOLDWURM S; DI MARIA E; KIFERLE L; BONUCCELLI U; MURRI L|
|Titolo:||Dopamine transporter imaging study in parkinsonism occurring in fragile X premutaion carriers|
|Anno del prodotto:||2005|
|Appare nelle tipologie:||1.1 Articolo in rivista|