Funding agencies: This work was supported by the National Institutes of Health (grant nos.: RO1 HD29909 and P30 HD24064).
Article first published online: 24 SEP 2012
Copyright © 2012 Movement Disorder Society
Volume 27, Issue 12, pages 1556–1559, October 2012
How to Cite
Juncos, J. L., Lazarus, J. T., Rohr, J., Allen, E. G., Shubeck, L., Hamilton, D., Novak, G. and Sherman, S. L. (2012), Olfactory dysfunction in fragile X tremor ataxia syndrome. Mov. Disord., 27: 1556–1559. doi: 10.1002/mds.25043
Relevant conflicts of interest/financial disclosures: Nothing to report.
Full financial disclosures and author roles may be found in the online version of this article.
- Issue published online: 18 OCT 2012
- Article first published online: 24 SEP 2012
- Manuscript Accepted: 18 APR 2012
- Manuscript Revised: 2 APR 2012
- Manuscript Received: 22 MAR 2011
- National Institutes of Health. Grant Numbers: RO1 HD29909, P30 HD24064
We investigated olfactory defects in fragile X-associated tremor/ataxia syndrome (FXTAS), a finding reported on in other neurodegenerative disorders with clinical features that overlap those of FXTAS.
We measured olfactory identification capacity in 41 FMR1 premutation carriers and 42 controls using the University of Pennsylvania Smell Identification Test (UPSIT). Carriers received neurologic evaluations using motor rating scales for tremor, ataxia, and parkinsonism. Cognitive function was measured using the Montreal Cognitive Assessment test.
Frequency of olfactory defects was higher in carriers, compared to controls (61% versus 29%; P = 0.003). There was no statistically significant group difference in severity of olfaction defects, after accounting for differences in age, and in rates of head injury and smoking. However, both the frequency (odds ratio = 3.9; 95% confidence interval: 0.81–19.1) and severity (28.6 versus 33.4; P = 0.01) of these defects were greater in cognitively impaired, compared to cognitively intact, carriers. There was no correlation between UPSIT scores and the above-mentioned motor rating scales.
FMR1 premutation carriers are susceptible to olfactory identification defects. The severity of these defects is comparable to that reported in hereditary ataxias, but less than that in PD and Alzheimer's disease. This concurrence across neurodegenerative disorders suggests a shared system vulnerability that correlates with, but is not limited to, cognitive impairment, because it is also found in cognitively intact carriers. These results need to be corroborated in a larger prospective study of FMR1 premutation carriers that extends beyond olfactory identification to include measures of smell thresholds. © 2012 Movement Disorder Society