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Premutation Alleles and Fragile X–Associated Tremor/Ataxia Syndrome—Reply
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In Reply: We agree with Drs Toft and Farrer that premutation carriers identified in the studies by Macpherson et al and Van Esch et al showed clinical features (ataxia and/or intention tremor) and cerebellar white matter abnormalities on imaging that serve as a major diagnostic criterion of FXTAS.1-2 Mutations in the FMR1 gene should be considered in patients with ataxia, but ataxic patients with FXTAS usually have other findings such as cognitive changes, parkinsonism, and abnormal magnetic resonance imaging results that should differentiate FXTAS from spinocerebellar ataxias. Nevertheless, because of the clinical overlap between FXTAS and spinocerebellar ataxia, it is prudent to test for FMR1 premutations, particularly in male patients with familial ataxia in whom the known spinocerebellar ataxias have been excluded. This is supported by a recent study of 122 patients with ataxia who tested negative for spinocerebellar ataxia 1, 2, 3, 6, and 7, but of whom . . . [Full Text of this Article]
Hao Deng, PhD;
Weidong Le, MD, PhD;
Joseph Jankovic, MD
josephj@bcm.tmc.edu
Parkinson Disease Center and Movement Disorders Clinic
Department of Neurology
Baylor College of Medicine
Houston, Tex
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