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 Volume 65, Number 2, July 26, 2005
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NEUROLOGY 2005;65:299-301
© 2005 American Academy of Neurology
Brief Communications

Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)

D. A. Hall, MD, E. Berry-Kravis, MD, PhD, S. Jacquemont, MD, C. D. Rice, MS, J. Cogswell, BA, L. Zhang, MD, PhD, R. J. Hagerman, MD, P. J. Hagerman, MD, PhD and M. A. Leehey, MD

From the University of Colorado Health Sciences Center (Drs. Hall and Leehey, C.D. Rice), Denver; Departments of Neurological Sciences, Pediatrics, and Biochemistry (Dr. Berry-Kravis), Rush University Medical Center, Chicago, IL; M.I.N.D. Institute and Department of Pediatrics (Drs. Jacquemont and R.J. Hagerman, J. Cogswell), University of California at Davis Medical Center, Sacramento; and Departments of Biochemistry and Molecular Medicine (Dr Hagerman) and Neurology (Dr. Zhang), University of California at Davis School of Medicine.

Address correspondence and reprint requests to Dr. Maureen A. Leehey, University of Colorado Health Sciences Center, Department of Neurology, B183, 4200 East Ninth Ave., Denver, CO 80262; e-mail: maureen.leehey{at}uchsc.edu

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly described disorder that occurs in premutation carriers of the fragile X mental retardation 1 (FMR1) gene. Fifty-six patients with FXTAS were given 98 prior diagnoses: most were in the categories of parkinsonism, tremor, ataxia, dementia, or stroke. Data from this study and others were used to develop guidelines for FMR1 diagnostic testing for FXTAS.

Editorial, see page 190

See also page 331

Supported by grants from the American Academy of Neurology (D.A.H.), National Institute of Neurological Disorders and Stroke (NS43532 to P.J.H.), and the National Institute of Child Health and Human Development (HD36071 to R.J.H.).

Received October 14, 2004. Accepted in final form March 3, 2005.


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