This review aims to assemble many years of research and clinical experience in the fields of neurodevelopment and neuroscience to present an up-to-date understanding of the clinical presentation, molecular and brain pathology associated with Fragile X syndrome, a neurodevelopmental condition that develops with the full mutation of the FMR1 gene, located in the q27.3 loci of the X chromosome, and Fragile X-associated tremor/ataxia syndrome a neurodegenerative disease experienced by aging premutation carriers of the FMR1 gene. It is important to understand that these two syndromes have a very distinct clinical and pathological presentation while sharing the same origin: the mutation of the FMR1 gene; revealing the complexity of expansion genetics.

中文翻译：

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脆性 X 综合征及相关疾病：临床方面和病理学。

本综述旨在汇集神经发育和神经科学领域多年的研究和临床经验，以提供对与脆性 X 综合征相关的临床表现、分子和脑病理学的最新理解，脆性 X 综合征是一种随着神经发育而发展的疾病。位于 X 染色体 q27.3 位点的 FMR1 基因完全突变，以及脆性 X 相关震颤/共济失调综合征，这是一种由 FMR1 基因的衰老前突变携带者经历的神经退行性疾病。重要的是要了解这两种综合征具有非常不同的临床和病理表现，同时具有相同的起源：FMR1 基因突变；揭示了扩张遗传学的复杂性。