Please cite this article as follows: Tassone F, Adams J, Berry-Kravis EM, Cohen SS, Brusco A, Leehey MA, Li L, Hagerman RJ, Hagerman PJ. 2007. CGG Repeat Length Correlates With Age of Onset of Motor Signs of the Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). Am J Med Genet Part B 144B:566–569.
Brief Research Communication
CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS)†
Article first published online: 10 APR 2007
Copyright © 2007 Wiley-Liss, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 144B, Issue 4, pages 566–569, 5 June 2007
How to Cite
Tassone, F., Adams, J., Berry-Kravis, E. M., Cohen, S. S., Brusco, A., Leehey, M. A., Li, L., Hagerman, R. J. and Hagerman, P. J. (2007), CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS). Am. J. Med. Genet., 144B: 566–569. doi: 10.1002/ajmg.b.30482
- Issue published online: 24 MAY 2007
- Article first published online: 10 APR 2007
- Manuscript Accepted: 9 NOV 2006
- Manuscript Received: 22 JUN 2006
- National Institutes of Neurological Disorders and Stroke. Grant Numbers: NS43532, NS044299
- National Institutes of Child Health and Development. Grant Numbers: HD36071, HD02274
- UC Davis Health Systems Research Award Program
- RNA toxicity
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurological disorder among carriers of premutation CGG-repeat expansions within the FMR1 gene. Principal features of FXTAS include progressive action tremor and gait ataxia, with associated features of parkinsonism, peripheral neuropathy, dysautonomia, and cognitive decline. Although both clinical and neuropathologic features of FXTAS are known to be highly associated with CGG repeat length, the relationship between repeat length and age-of-onset is not known. To address this issue, the ages of onset of action tremor and gait ataxia were documented by history for 93 male carriers. For this cohort, the mean ages of onset were 62.6 ± 8.1 years (range, 39–78 years) for tremor, and 63.6 ± 7.3 years (range, 47–78 years) for ataxia; the mean CGG repeat number was 88.5 ± 14 (range, 60–133). Analysis of the relationship between clinical onset and molecular measures revealed significant correlations between CGG repeat number and onset of both tremor (P = 0.001) and ataxia (P = 0.002), as well as overall onset (P < 0.0001). Our findings indicate that the CGG repeat number is a potential predictor of the age of onset of core motor features of FXTAS. © 2007 Wiley-Liss, Inc.