Nonetheless, to our knowledge we are reporting for the first time, that the AQP4 SNPs (rs162007, rs162008, rs63514, rs335931, rs335930, rs335929, and rs16942851) and haplotypes were not associated with susceptibility of FXTAS in Caucasian population. The gene discussed is AQP4; the disease is fragile X-associated tremor/ataxia syndrome.