Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates

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 cli...

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Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: The American Society of Human Genetics 2003
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Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180350/
https://ncbi.nlm.nih.gov/pubmed/12638084
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