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Intern Med. 2010;49(12):1205-8. Epub 2010 Jun 15.

A Japanese case of fragile-X-associated tremor/ataxia syndrome (FXTAS).

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  • 1Department of Neurology, Institute of Clinical Medicine, Majors of Medical Sciences, Graduate School of Comprehensive Human Sciences University of Tsukuba, Tsukuba, Japan.


A 71-year-old man developed postural tremor and was treated as an essential tremor patient. Nine years after the tremor onset, he developed symptoms resembling Fragile-X-associated tremor/ataxia syndrome (FXTAS), including exacerbated (increased coarseness and amplitude) tremor in the right arm, ataxic gait, and brain MRI showed lesions in the bilateral middle cerebellar peduncles (MCP). Evidence of premutation in the form of 83 CGG repeats of the Fragile-X-mental retardation 1 (FMR1) gene confirmed the diagnosis of FXTAS. FXTAS causes various neurological symptoms including in some cases tremor resembling essential tremor in the early stages. FMR1 gene premutation should be checked when the patient develops intention tremor, cerebral dysfunction and/or a brain MRI shows MCP lesions.

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