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Letters
January 19, 2005

Premutation Alleles and Fragile X–Associated Tremor/Ataxia Syndrome

Author Affiliations
 

Letters Section Editor: Robert M. Golub, MD, Senior Editor.

JAMA. 2005;293(3):296-297. doi:10.1001/jama.293.3.296-a

To the Editor: The study by Dr Deng and colleagues1 stated that premutation carriers of the fragile X mental retardation 1 (FMR1) gene are at high risk of developing fragile X–associated tremor/ataxia syndrome (FXTAS) and spinocerebellar ataxia. Their reference2 and a recent study by Van Esch et al3 found FMR1 premutation carriers in male patients referred for testing of spinocerebellar ataxia genes. However, most of the premutation carriers identified in these 2 studies showed cerebellar white matter abnormalities on imaging, and they fulfilled the diagnostic criteria for FXTAS, which include intention tremor, gait ataxia, parkinsonism, cognitive symptoms, and pathology evident on magnetic resonance imaging.4 Such patients should therefore not receive a diagnosis of spinocerebellar ataxia.

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