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.
Dopamine transporter imaging study in parkinsonism occurring in fragile X premutaion carriers
CERAVOLO, ROBERTO;VOLTERRANI, DUCCIO;BONUCCELLI, UBALDO;MURRI, LUIGI
2005-01-01
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
