ATYPICAL CLINICAL COURSE OF FXTAS: RAPIDLY PROGRESSIVE DEMENTIA AS THE MAJOR SYMPTOM
ATYPICAL CLINICAL COURSE OF FXTAS: RAPIDLY PROGRESSIVE DEMENTIA AS THE MAJOR SYMPTOM
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FXTAS 的非典型临床病程：以快速进展性痴呆为主要症状
DOI：
10.1212/01.wnl.0000262058.68100.ea
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发表时间：
2007
期刊：
影响因子：
9.9
通讯作者：
S. Rudnicki
中科院分区：
文献类型：
--
作者：
S. Rudnicki
脆性x相关震颤/共济失调综合征（FXTAS）是一种进行性神经系统疾病，可能影响FMR1基因前突变携带者（55 - 200个CGG重复序列），主要是50岁以上的男性。这些个体没有由FMR1基因完全突变（bbb200个CGG重复）引起的智力迟钝综合征。FXTAS的主要特征包括进行性意性震颤和小脑共济失调，常伴有进行性认知和行为障碍，如记忆丧失、焦虑、执行功能缺陷、孤僻或易怒行为，在一些个体中逐渐出现痴呆；可能出现帕金森病、周围神经病变、下肢近端肌无力和自主神经功能障碍在少数患者中发现了严重的痴呆症29例FXTAS患者的神经心理学评估显示，21%的患者智商<85，反映了严重的认知障碍或痴呆与正常年龄相匹配的对照组相比，FXTAS患者与额叶-皮层下痴呆相适应的神经精神表现（躁动/攻击、抑郁、冷漠、去抑制和易怒）显著增加。4……
The fragile X–associated tremor/ataxia syndrome (FXTAS) is a progressive neurologic disorder that may affect carriers of premutations of the FMR1 gene (55 to 200 CGG repeats), mainly men older than 50 years of age. These individuals do not have the mental retardation syndrome, which is caused by the FMR1 gene full mutation (>200 CGG repeats). The major FXTAS features include progressive intention tremor and cerebellar ataxia, often accompanied by progressive cognitive and behavioral disturbances, such as memory loss, anxiety, deficits of executive functions, and reclusive or irritable behavior, with a gradual appearance of dementia in some individuals; parkinsonism, peripheral neuropathy, lower-limb proximal muscle weakness, and autonomic dysfunction may be present.1 Severe dementia has been seen in a limited number of patients.2 Neuropsychological assessments in 29 FXTAS patients revealed that 21% had Full Scale IQs <85, reflecting severe cognitive impairment or dementia.3 Neuropsychiatric manifestations (agitation/aggression, depression, apathy, disinhibition, and irritability) compatible with frontal-subcortical dementia were documented as significantly greater in patients with FXTAS vs normal age-matched controls.4 …
影响因子：
9.8
作者：
Jacquemont, S;Hagerman, RJ;Hagerman, PJ
通讯作者：
Hagerman, PJ
影响因子：
5.3
作者：
Bacalman, S;Farzin, F;Hagerman, RJ
通讯作者：
Hagerman, RJ
影响因子：
14.5
作者：
Greco, C. M.;Hagerman, R. J.;Hagerman, P. J.
通讯作者：
Hagerman, P. J.