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In Reply: We agree with Ms Barrett and colleagues that genetic counseling should be provided prior to testing for FMR1 gene status among older adults with tremor and/or ataxia. FXTAS is one of several forms of clinical involvement among carriers of premutation alleles.¹ Children with the premutation can experience significant emotional and attentional problems, developmental delays, and autism; additionally, approximately 20% of female carriers have premature ovarian failure.¹ We agree that genetic counseling is therefore essential for the immediate and extended family and should review in depth the inheritance pattern and related implications.²

When a child is identified as having fragile X syndrome, we recommend that all siblings and other family members at risk of carrying premutation or full-mutation alleles be tested for FMR1 allele status.^2-3 Early emotional, behavioral, or cognitive interventions can be of benefit to young carriers⁴ of either the premutation or full-mutation forms of the FMR1 gene.

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Paul J. Hagerman, MD, PhD
pjhagerman@ucdavis.edu
Department of Pediatrics
University of California, Davis Medical Center
Sacramento

Randi J. Hagerman, MD; Louise W. Gane, MS
MIND Institute
Sacramento, Calif

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