Hagerman R J, Leavitt B R, Farzin F, Jacquemont S, Greco C M, Brunberg J A, Tassone F, Hessl D, Harris S W, Zhang L, Jardini T, Gane L W, Ferranti J, Ruiz L, Leehey M A, Grigsby J, Hagerman P J
Medical Investigation of Neurodevelopmental Disorders Institute, University of California-Davis Medical Center, Sacramento, CA, 95817, USA.
Am J Hum Genet. 2004 May;74(5):1051-6. doi: 10.1086/420700. Epub 2004 Apr 2.
We describe five female carriers of the FMR1 premutation who presented with symptoms of tremor and ataxia and who received a diagnosis of definite or probable fragile-X-associated tremor/ataxia syndrome (FXTAS). Unlike their male counterparts with FXTAS, none of the women had dementia. Females had not been reported in previous studies of FXTAS, suggesting that they may be relatively protected from this disorder. Brain tissue was available from one of the five subjects, a women who died at age 85 years; microscopic examination revealed intranuclear neuronal and astrocytic inclusions, in accord with the findings previously reported in males with FXTAS. The work-up of families with the FMR1 mutation should include questions regarding neurological symptoms in both older male and female carriers, with the expectation that females may also manifest the symptoms of FXTAS, although more subtly and less often than their male counterparts.
我们描述了5名FMR1前突变的女性携带者，她们出现震颤和共济失调症状，并被诊断为确诊或可能的脆性X相关震颤/共济失调综合征（FXTAS）。与患有FXTAS的男性不同，这些女性均无痴呆症状。在先前关于FXTAS的研究中尚未报道过女性患者，这表明她们可能相对不易患这种疾病。5名受试者中有1名女性受试者的脑组织可用，该女性85岁去世；显微镜检查发现核内神经元和星形胶质细胞包涵体，这与先前报道的患有FXTAS的男性的研究结果一致。对携带FMR1突变的家族进行检查时，应询问老年男性和女性携带者的神经症状，因为尽管女性可能表现出FXTAS症状，但其症状可能比男性更不明显且更少见。
