Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates
Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates
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DOI：
10.1086/374321
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发表时间：
2003-04-01
影响因子：
9.8
通讯作者：
Hagerman, PJ
中科院分区：
文献类型：
--
作者：
Jacquemont, S;Hagerman, RJ;Hagerman, PJ
我们介绍了一系列的26例患者，所有>50岁，谁是携带者的脆性X前突变，并受到多系统，进行性神经系统疾病。这种新综合征的两个主要临床特征是小脑共济失调和/或意向性震颤，这被选为本系列的临床入选标准。其他记录的症状包括短期记忆丧失、执行功能缺陷、认知下降、帕金森综合征、周围神经病变、下肢近端肌无力和自主神经功能障碍。在小脑中脚和邻近小脑白色物质中T2信号强度增加的对称区域被认为对这种神经系统疾病高度敏感，它们的存在是本系列的放射学纳入标准。分子学检查结果包括mRNA升高和脆性X智力低下1蛋白水平正常偏低或轻度降低。这些患者的临床表现，再加上磁共振成像上可见的特定病变和神经病理学结果，提供了一个更完整的描述这种脆性X基因前突变相关的震颤/共济失调综合征，并将其与其他运动障碍。
We present a series of 26 patients, all >50 years of age, who are carriers of the fragile X premutation and are affected by a multisystem, progressive neurological disorder. The two main clinical features of this new syndrome are cerebellar ataxia and/or intention tremor, which were chosen as clinical inclusion criteria for this series. Other documented symptoms were short-term memory loss, executive function deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower limb proximal muscle weakness, and autonomic dysfunction. Symmetrical regions of increased T2 signal intensity in the middle cerebellar peduncles and adjacent cerebellar white matter are thought to be highly sensitive for this neurologic condition, and their presence is the radiological inclusion criterion for this series. Molecular findings include elevated mRNA and low-normal or mildly decreased levels of fragile X mental retardation 1 protein. The clinical presentation of these patients, coupled with a specific lesion visible on magnetic resonance imaging and with neuropathological findings, affords a more complete delineation of this fragile X premutation-associated tremor/ataxia syndrome and distinguishes it from other movement disorders.