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Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: A new female case



We report an original case of fragile X-associated tremor/ataxia syndrome in a female carrier, who had been misdiagnosed for years because of unusual features mimicking other movement or cerebrovascular disorders. She exhibited features that have not been previously described, including voice and head tremor as well as spasmodic laryngeal dystonia. Brain MRI showed widespread leukoencephalopathy reminiscent of vascular encephalopathy, exemplifying the diversity of MRI abnormalities that could be associated with the condition. © 2007 Movement Disorder Society