Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: Newly described fronto-subcortical dementia
Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: Newly described fronto-subcortical dementia
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DOI：
10.4088/jcp.v67n0112
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发表时间：
2006-01-01
影响因子：
5.3
通讯作者：
Hagerman, RJ
中科院分区：
文献类型：
--
作者：
Bacalman, S;Farzin, F;Hagerman, RJ
目的：对脆性X相关震颤/共济失调综合征(FXTAS)的男性脆性X相关震颤/共济失调综合征(FXTAS)患者的神经精神症状进行描述和量化。方法：对14名FMR1基因突变男性携带者和14名年龄和教育程度相匹配的对照组进行了神经精神症状问卷(NPI)、正式认知测试和基因分析。结果：FXTAS男性NPI总分显著高于对照组(p&t；004)，激惹/攻击(p<；)、抑郁(p&t；004；p<；.004)、冷漠(p<；.004)、去抑制(p<；.004)和易怒(p<；.004)量表，与对照组比较。在简易智力状态检查中的认知表现与NPI上的症状严重程度无关。结论：根据这一初步报告，FXTAS的神经精神病学表现似乎是额叶-皮质下痴呆。临床医生遇到有运动症状的临床痴呆患者时，建议FXTAS应考虑进行基因测试，以确定患者的痴呆综合征是否继发于脆性X预突变携带者状态。
Objective: The authors describe and quantify the neuropsychiatric symptoms present in a cohort of males with the fragile X mental retardation 1 (FMR1) premutation allele who have developed fragile X-associated tremor/ataxia syndrome (FXTAS).Method: Fourteen male carriers of the FMR1 premutation who had clinical manifestations of the FXTAS syndrome and 14 age- and education-matched controls were assessed with the Neuropsychiatric Inventory (NPI), formal cognitive testing, and genetic analysis.Results: Males with FXTAS had significantly higher total NPI scores (p < .004) and significantly higher scores on the agitation/aggression (p < .004), depression (p < .004), apathy (p < .004), disinhibition (p < .004), and irritability (p < .004) scales, compared with controls. Cognitive performances on the Mini-Mental State Examination did not correlate with severity of symptoms on the NPI.Conclusions: The neuropsychiatric manifestations of FXTAS, based on this preliminary report, appear to cluster as a fronto-subcortical dementia. Clinicians encountering patients with clinical dementia with motor symptoms suggesting FXTAS should consider genetic testing to determine whether the patient's dementia syndrome is secondary to a fragile X premutation carrier status.