Dr Hagerman's work has been funded by the NIH. Other funding has been received for clinical trials from Seaside Therapeutics, Roche, Forest, Curemark, and Novartis. Dr. Zhang's work has been funded by the NIH. Other funding has been received for clinical trials from Boehringer-Ingelheim, and Allergan. Dr. Zhang serves as consultant and/or adviser for Allergan, Dysport, Teva Neuroscience, and Merz. Dr. Zhang serves as speaker for Allergan, Novartis, and Teva Neuroscience. Dr. Ying Liu's work has been funded by Teva Neuroscience and Allergan. There are no other conflicts of interest from the authors.
Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers
Article first published online: 17 OCT 2012
© 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 84, Issue 1, pages 74–77, July 2013
How to Cite
Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers., , , , .
- Issue published online: 9 JUN 2013
- Article first published online: 17 OCT 2012
- Accepted manuscript online: 25 SEP 2012 10:37AM EST
- Manuscript Revised: 21 SEP 2012
- Manuscript Accepted: 21 SEP 2012
- Manuscript Received: 15 JUL 2012
- NIH. Grant Numbers: HD036071, HD02274
- Neurotherapeutic Research Institute. Grant Numbers: DE019583, DA02484
- National Institute on Aging. Grant Numbers: AG032119, AG032115
- National Center for Research Resources. Grant Number: UL1 RR024146
- The Health and Human Services Administration of Developmental Disabilities. Grant Number: 90DD05969
- grey zone;
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 had family members who had premutation and were diagnosed with FXTAS. The presence of relatively high GZ alleles with elevated fragile X mental retardation 1 mRNA (FMR1-mRNA) combined with a family history of FXTAS that may represent a facilitating genetic background for FXTAS are the factors that led to the presence of FXTAS in these individuals with a GZ allele. Further research into clinical involvement of GZ alleles is recommended and the definition of FXTAS may require revision.