Seritan Andreea L, Ortigas Melina, Seritan Stefan, Bourgeois James A, Hagerman Randi J
Department of Psychiatry and Behavioral Sciences, University of California Davis Medical Center, Sacramento, California ; Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute, University of California Davis Medical Center, Sacramento, California.
Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute, University of California Davis Medical Center, Sacramento, California.
Curr Psychiatry Rev. 2013;9(1):59-64. doi: 10.2174/157340013805289699.
Carriers of the FMR1 premutation (with 55-200 CGG repeats) may present with multiple medical and psychiatric disorders. Middle-aged carriers (males more often than females) may suffer from fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS is a newly discovered neurodegenerative disease characterized by intention tremor and ataxia, along with several other neurological features. Psychiatric manifestations are common in premutation carriers of both genders and include attention deficits, anxiety, depression, irritability, impulse dyscontrol, and substance abuse or dependence. Major depressive disorder, panic disorder with or without agoraphobia, generalized anxiety disorder, social phobia, and specific phobia are among the psychiatric diagnoses often encountered in premutation carriers, including those with FXTAS. Later in the course of the illness, cognitive deficits (including dementia) may occur. In this paper, we discuss common psychiatric phenotypes in FXTAS, based on a thorough review of the literature, as well as our own research experience. Symptomatic pharmacologic treatments are available, although disease modifying agents have not yet been developed.
FMR1前突变携带者（具有55 - 200个CGG重复序列）可能会出现多种医学和精神疾病。中年携带者（男性比女性更常见）可能患有脆性X相关震颤/共济失调综合征（FXTAS）。FXTAS是一种新发现的神经退行性疾病，其特征为意向性震颤和共济失调，以及其他一些神经学特征。精神症状在男女前突变携带者中都很常见，包括注意力缺陷、焦虑、抑郁、易怒、冲动控制障碍以及药物滥用或依赖。重度抑郁症、伴或不伴广场恐惧症的惊恐障碍、广泛性焦虑障碍、社交恐惧症和特定恐惧症是前突变携带者（包括患有FXTAS的携带者）中经常遇到的精神诊断。在疾病后期，可能会出现认知缺陷（包括痴呆）。在本文中，我们在全面回顾文献以及结合我们自己研究经验的基础上，讨论FXTAS中常见的精神表型。虽然尚未开发出疾病修饰药物，但有对症的药物治疗方法。
