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

✍ Scribed by Judit Horvath; Michael Morris; Armand Bottani; Isabelle Moix; Jacqueline Delavelle; Pierre R. Burkhard

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
90 KB
Volume
22
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

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

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