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

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.
Ceravolo, Roberto; Antonini, A; Volterrani, Duccio; Rossi, C; Goldwurm, S; DI MARIA, E; Kiferle, L; Bonuccelli, Ubaldo; Murri, Luigi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11568/201961
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