Objective: To report the first case of FXTAS from mainland of China and review the literature to find out why is FXTAS an underestimated disease in China.

Background: Fragile X-associated tremor/ataxia syndrome(FXTAS) is a late onset,X-linked genetic, neurodegenerative disorder caused by a ‘’premutation (PM) ‘’ in the fragile X mental retardation 1 (FMR1) gene. FXTAS was first reported in the literature by Hagermanin 2001 and there have been many cases reported in the world now. But to our knowledge there isn’t FXTAS case reported from mainland of China.

Method: We report a 67-year-old right-handed farmer with 8-year history of tremor especially orthostatic tremor. The tremor progressed gradually and he had gait problem recently. We gave him physical examination,cranial MRI and gene test. We conducted a systematic review of the literature to summarize and analyse the character of FXTAS.

Results: The brain MRI showed high intensity signal in the bilateral middle cerebellar peduncles (MCP) and gene test for premutation for FMR1 was positive with 101 CGG repeats. FXTAS was considered for this patient. We analysed the 56 cases with detailed clinical information though the systematic review of the literature.We find out that 71.43% (40/56) FXTAS patients have family history of FMR1 gene associated disease;the frequency of tremor is very high (82.14%,46/56) which has character that intention tremor is dominant 42.86% (24/56) and about 30.36%  (17/56) have at least two types of tremor;there is 65.63% male FXTAS patients and 35.71% in female has MCP sign in cerebral MRI.

Conclusion: In patients particularly males over the age of 50 with intention tremor especially with different types tremor, ataxia gait,presence MCP in MRI and with family history of FMR1 gene associated disease should raise suspicion of FXTAS.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/the-first-chinese-case-of-fragile-x-associated-tremor-ataxia-syndrome-an-underestimated-disease-in-china/