Article
Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers.
Clinical genetics - 1 Jul 2013
Liu Y, Winarni T I, Zhang L, Tassone F, Hagerman R J
Abstract excerpt
The grey zone (GZ; 45-54 CGG repeats in the FMR1 gene) is considered a normal allele; however, several studies have found a high frequency of GZ in movement disordered populations. Here, we describe neurological features of fragile X-associated tremor/ataxia syndrome (FXTAS) in two carriers of GZ alleles, although FXTAS has been defined as occurring only in premutation carriers (55-200 CGG repeats). Both patients...
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