Besterman Aaron D, Wilke Scott A, Mulligan Tua-Elisabeth, Allison Stephen C, Hagerman Randi, Seritan Andreea L, Bourgeois James A
Department of Psychiatry, University of California San Francisco School of Medicine, San Francisco, California 94143 USA.
Department of Pediatrics and MIND Institute, University of California Davis, Sacramento, California 95817 USA.
Future Neurol. 2014 Mar;9(2):227-239. doi: 10.2217/fnl.14.11.
Fragile X-associated disorders (FXD) are a group of disorders caused by expansion of non-coding CGG repeat elements in the fragile X () gene. One of these disorders, fragile X syndrome (FXS), is the most common heritable cause of intellectual disability, and is caused by large CGG repeat expansions (>200) resulting in silencing of the gene. An increasingly recognized number of neuropsychiatric FXD have recently been identified that are caused by 'premutation' range expansions (55-200). These disorders are characterized by a spectrum of neuropsychiatric manifestations ranging from an increased risk of neurodevelopmental, mood and anxiety disorders to neurodegenerative phenotypes such as the fragile X-associated tremor ataxia syndrome (FXTAS). Here, we review advances in the clinical understanding of neuropsychiatric disorders in premutation carriers across the lifespan and offer guidance for the detection of such disorders by practicing psychiatrists and neurologists.
脆性X相关疾病（FXD）是一组由脆性X（FMR1）基因中非编码CGG重复元件扩增引起的疾病。其中一种疾病，脆性X综合征（FXS），是智力残疾最常见的遗传原因，由大量CGG重复扩增（>200）导致FMR1基因沉默引起。最近发现，越来越多的神经精神性FXD是由“前突变”范围的扩增（55-200）引起的。这些疾病的特征是一系列神经精神表现，从神经发育、情绪和焦虑障碍风险增加到神经退行性表型，如脆性X相关震颤共济失调综合征（FXTAS）。在这里，我们综述了对前突变携带者一生中神经精神疾病临床认识的进展，并为执业精神科医生和神经科医生检测此类疾病提供指导。
