Fragile X premutation in a woman with cognitive impairment, tremor, and history of premature ovarian failure
Fragile X premutation in a woman with cognitive impairment, tremor, and history of premature ovarian failure
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DOI：
10.1097/wad.0b013e31811ec130
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发表时间：
2007-07-01
影响因子：
2.1
通讯作者：
Harik, Sami I.
中科院分区：
文献类型：
--
作者：
Al-Hinti, Jomana T.;Nagan, Narasimhan;Harik, Sami I.
少数女性脆性X震颤共济失调综合征（FXTAS）的报告。她们在较晚的年龄比男性有较轻的表现。这种性别差异可能与女性的X失活模式有关。我们描述了一个女人谁提出了她的老年医学医生记忆力差，被发现有共济失调和震颤。其他查询显示有卵巢早衰病史。基因检测显示杂合子脆性X智力低下基因前突变，异常等位基因有103个CGG重复，正常等位基因有31个CGG重复。此外，X失活模式是偏斜的，活性X染色体主要具有前突变等位基因。我们认为FXTAS在女性中比通常认为的更常见，许多此类患者伪装成老年痴呆症。与提示卵巢早衰病史相关的动作性震颤和共济失调应引起FXTAS的怀疑。
Few women with Fragile X tremor ataxia syndrome (FXTAS) have been reported. They have milder manifestations at a later age than men. This gender difference may be related to the X inactivation pattern in women. We describe a woman who presented to her geriatrician with poor memory and was found to have ataxia and tremor. Additional queries yielded history of premature ovarian failure. Genetic testing showed heterozygous fragile X mental retardation gene premutation with 103 CGG repeats in the abnormal allele and 31 CGG repeats in the normal allele. Also, the X inactivation pattern was skewed with the active X chromosome predominantly having the premutation allele. We believe that FXTAS is more common in women than is generally thought and that many such patients masquerade as dementia of old age. Action tremor and ataxia associated with a history suggestive of premature ovarian failure should raise suspicions for FXTAS.