Orsucci Daniele, Lorenzetti Lucia, Baldinotti Fulvia, Rossi Andrea, Vitolo Edoardo, Gheri Fabio Luigi, Napolitano Alessandro, Tintori Giancarlo, Vista Marco
Unit of Neurology, San Luca Hospital, Via Lippi-Francesconi, 55100 Lucca, Italy.
Unit of Internal Medicine, Santa Croce Hospital, 55032 Castelnuovo Garfagnana, Lucca, Italy.
J Clin Med. 2022 Feb 15;11(4):1002. doi: 10.3390/jcm11041002.
Although larger trinucleotide expansions give rise to a neurodevelopmental disorder called fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by a "premutation" (55-200 CGG repeats) in the gene. FXTAS is one of the more common single-gene forms of late-onset ataxia and tremor that may have a more complex development in women, with atypical presentations. After a brief presentation of the atypical case of an Italian woman with FXTAS, who had several paroxysmal episodes suggestive of acute cerebellar and/or brainstem dysfunction, this article will revise the phenotype of FXTAS in women. Especially in females, FXTAS has a broad spectrum of symptoms, ranging from relatively severe diseases in mid-adulthood to mild cases beginning in later life. Female FXTAS and male FXTAS have a different symptomatic spectrum, and studies on the fragile X premutation should be conducted separately on women or men. Hopefully, a better understanding of the molecular processes involved in the polymorphic features of FXTAS will lead to more specific and effective therapies for this complex disorder.
虽然较大的三核苷酸重复扩增会引发一种名为脆性X综合征的神经发育障碍，但脆性X相关震颤/共济失调综合征（FXTAS）是一种迟发性神经退行性疾病，由该基因中的“前突变”（55 - 200个CGG重复序列）引起。FXTAS是迟发性共济失调和震颤较为常见的单基因形式之一，在女性中其发展可能更为复杂，表现不典型。在简要介绍了一名患有FXTAS的意大利女性的非典型病例后，该病例有几次提示急性小脑和/或脑干功能障碍的阵发性发作，本文将对女性FXTAS的表型进行修订。特别是在女性中，FXTAS有广泛的症状，从中年时期相对严重的疾病到晚年开始的轻度病例不等。女性FXTAS和男性FXTAS有不同的症状谱，对脆性X前突变的研究应该分别在女性或男性中进行。希望对FXTAS多态性特征所涉及的分子过程有更好的理解，将为这种复杂疾病带来更具体、有效的治疗方法。
