Department of Psychiatry, Clinical Science Institute, National University of Ireland Galway, Galway, Ireland.
J Neurol. 2012 Mar;259(3):401-13. doi: 10.1007/s00415-011-6161-3. Epub 2011 Jul 12.
Fragile X Syndrome (FraX) is the most common inherited cause of learning disability worldwide. FraX is an X-linked neuro-developmental disorder involving an unstable trinucleotide repeat expansion of cytosine guanine guanine (CGG). Individuals with the full mutation of FraX have >200 GG repeats with premutation carriers having 55-200 GG repeats. A wide spectrum of physical, behavioural, cognitive, psychiatric and medical problems have been associated with both full mutation and premutation carriers of FraX. In this review, we detail the clinical profile and examine the aetiology, epidemiology, neuropathology, neuroimaging findings and possible management strategies for individuals with both the full mutation and premutation of FraX.
脆性 X 综合征（FraX）是全球最常见的遗传性学习障碍病因。FraX 是一种涉及不稳定三核苷酸重复扩展的 X 连锁神经发育障碍胞嘧啶鸟嘌呤鸟嘌呤（CGG）。FraX 完全突变的个体具有 >200 个 GG 重复，前突变携带者具有 55-200 个 GG 重复。广泛的身体、行为、认知、精神和医学问题与 FraX 的完全突变和前突变携带者有关。在这篇综述中，我们详细描述了临床特征，并检查了 FraX 完全突变和前突变个体的病因、流行病学、神经病理学、神经影像学发现和可能的管理策略。
