A review of fragile X premutation disorders: expanding the psychiatric perspective.
A review of fragile X premutation disorders: expanding the psychiatric perspective.
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DOI：
10.4088/jcp.08m04476
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发表时间：
2009-06
期刊：
影响因子：
--
通讯作者：
Hagerman RJ
中科院分区：
文献类型：
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作者：
Bourgeois JA;Coffey SM;Rivera SM;Hessl D;Gane LW;Tassone F;Greco C;Finucane B;Nelson L;Berry-Kravis E;Grigsby J;Hagerman PJ;Hagerman RJ
脆性X染色体前突变与精神病理学的显著程度相关，因此引起精神病学家的兴趣。分子水平上的显著进展增强了我们对脆性X前突变疾病的理解。作者回顾了脆性X智力低下1（FMR 1）基因突变前携带状态（55-200 CGG重复）的遗传、分子、神经影像学和临床（全身、神经和精神）表现。前突变携带者精神疾病的临床表现包括认知、情绪、焦虑和其他精神障碍。脆性X染色体前突变相关疾病是几种精神综合征临床鉴别诊断的一部分，特别是在已知脆性X染色体综合征（FXS）病例的家系中。脆性X相关的精神症状作为一个有用的模型，神经精神疾病的分子起源。由于脆性X相关神经精神疾病的多代表达，对患者及其亲属进行基因检测和遗传咨询具有重要作用。基因检测是FMR 1前突变的确证，是临床评价的重要组成部分。对脆性X相关精神疾病的精神药理学和精神治疗可以改善患者的功能，并有助于适应遗传性神经精神疾病的负担。
Fragile X premutation conditions are associated with a significant degree of psychopathology and thus are of interest to the psychiatrist. Remarkable advances at the molecular level have enhanced our understanding of fragile X premutation disorders. The authors review the genetic, molecular, neuroimaging, and clinical (systemic, neurologic, and psychiatric) manifestations of the premutation carrier state (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. Clinical manifestations of psychiatric illness in premutation carriers include cognitive, mood, anxiety, and other psychiatric disorders. Fragile X premutation-associated conditions are part of the clinical differential diagnosis of several psychiatric syndromes, particularly in pedigrees with known fragile X syndrome (FXS) cases. Fragile X-associated psychiatric manifestations serve as a useful model for a molecular genesis of neuropsychiatric illness. Because of the multigenerational expression of fragile X-associated neuropsychiatric illness, there is a prominent role for genetic testing and genetic counseling of patients and their relatives. Genetic testing is confirmatory of the FMR1 premutation and is an essential component of the clinical evaluation. Psychopharmacological and psychotherapeutic treatment of fragile X-associated psychiatric illnesses may improve patient function and assist in adaptation to the burden of a genetic neuropsychiatric illness.