Cabanyes-Truffino J
Departamento de Neurología y Neurocirugía, Clínica Universidad de Navarra, Madrid, Sección Departamental de Personalidad, Facultad de Educación, Universidad Complutense, Madrid, España.
Neurologia. 2010 May;25(4):222-7.
Fragile X syndrome is an inherited form of mental retardation. It results from an abnormally expanded number of trinucleotide CGG repeats. Some grandfathers of these children become forgetful, have frequent falls and other neurological problems. Researchers have found a connection between fragile X syndrome and the neurological symptoms in elderly men. This resulted in the recognition of a syndrome originally referred to as intention tremor, parkinsonism and generalised brain atrophy in carriers of a fragile X premutation. This premutation is also associated with premature ovarian failure.
This paper reviews the literature on the neurological signs of fragile X premutation.
Fragile X premutation is a risk for movement disorders and cognitive dysfunction and it should be considered in patients with a family history of mental retardation or autism, and particularly in those females with premature ovarian failure.
脆性X综合征是一种遗传性智力障碍形式。它由三核苷酸CGG重复序列异常扩增所致。这些孩子的一些祖父会变得健忘、频繁跌倒及出现其他神经问题。研究人员发现脆性X综合征与老年男性的神经症状之间存在关联。这导致了一种最初被称为脆性X前突变携带者的意向性震颤、帕金森症和广泛性脑萎缩综合征的被认识。这种前突变也与卵巢早衰有关。
本文综述了关于脆性X前突变神经体征的文献。
脆性X前突变是运动障碍和认知功能障碍的一个风险因素，对于有智力障碍或自闭症家族史的患者，尤其是那些患有卵巢早衰的女性，应考虑到这一点。
