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COMMENTS AND OPINIONS
Fragile X Syndrome vs Fragile X–Associated Tremor/Ataxia Syndrome
Maureen A. Leehey, MD;
Randi J. Hagerman, MD;
Paul J. Hagerman, MD
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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We read with interest the article by Dr Cellini and colleagues.1 The authors help define the broad spectrum of neurological signs that occur in carriers of premutation alleles of the fragile X mental retardation 1 (FMR1) gene and make a number of important observations. Most notably, the article documents the importance of testing for the FMR1 premutation carrier state in men older than 50 years of age with sporadic ataxia, finding that the gene abnormality was the cause in almost 5% of cases.
Our group published the first case reports in 2001 and has since examined more than 100 affected persons. We want to address an issue of nomenclature. The authors refer to the disorder as fragile X syndrome with associated tremor or ataxia. This is misleading, suggesting that affected persons have fragile X syndrome . . . [Full Text of this Article] AUTHOR INFORMATION
RELATED LETTER
Fragile X Syndrome vs Fragile XAssociated Tremor/Ataxia SyndromeReply
Elena Cellini, Paolo Forleo, Andrea Ginestroni, Benedetta Nacmias, Andrea Tedde, Silvia Bagnoli, Silvia Piacentini, Mario Mascalchi, and Sandro Sorbi
Arch Neurol. 2007;64(2):289-290.
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