Article
Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease.
Parkinsonism & related disorders - 1 Feb 2009
Hall Deborah A, Howard Katherine, Hagerman Randi, Leehey Maureen A
Abstract excerpt
Premutation carriers of repeat expansions in the fragile X mental retardation (FMR1) gene develop kinetic tremor and ataxia or the 'fragile X associated tremor/ataxia syndrome' (FXTAS). Affected FMR1 premutation carriers also have parkinsonism, but have not been reported to meet criteria for Parkinson disease. This case series illustrates that some patients who are FMR1 premutation carriers may appear by history...
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