Article
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.
American journal of human genetics - 1 Apr 2003
Jacquemont Sébastien, Hagerman Randi J, Leehey Maureen, Grigsby Jim, Zhang Lin, Brunberg James A, Greco Claudia, Des Portes Vincent, Jardini Tristan, Levine Richard, Berry-Kravis Elizabeth, Brown W Ted, Schaeffer Stephane, Kissel John, Tassone Flora, Hagerman Paul J
Abstract excerpt
We present a series of 26 patients, all >50 years of age, who are carriers of the fragile X premutation and are affected by a multisystem, progressive neurological disorder. The two main clinical features of this new syndrome are cerebellar ataxia and/or intention tremor, which were chosen as clinical inclusion criteria for this series. Other documented symptoms were short-term memory loss, executive function...
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