Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders.
Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders.
复制标题
DOI：
10.1080/13854046.2016.1202239
复制
发表时间：
2016-08
期刊：
影响因子：
--
通讯作者：
O'Keefe JA
中科院分区：
文献类型：
--
作者：
Robertson EE;Hall DA;McAsey AR;O'Keefe JA
本文的目的是回顾脆性 X 相关震颤/共济失调综合征 (FXTAS)、原发性震颤 (ET)、帕金森病 (PD)、脊髓小脑性共济失调 (SCA)、多系统萎缩 (MSA) 和进行性核上性麻痹 (PSP) 中常见的典型认知和运动障碍，以加强对 FXTAS 患者的诊断。我们将 FXTAS 的认知和运动表型与其他运动障碍进行了比较。还回顾了相关的神经病理学和神经影像学发现。最后，我们描述了 FXTAS 与 ET、PD、SCAs、MSA 和 PSP 相比在发病年龄、疾病严重程度、进展率和平均寿命方面的差异。最后我们给出了流程图算法来指导临床医生进行 FXTAS 的鉴别诊断。通过将 FXTAS 的认知和运动表型与 ET、PD、SCA、MSA 和 PSP 表型进行比较，我们澄清了潜在的症状重叠，同时阐明了使这些疾病彼此独特的因素。总之，如果 50 岁以上的患者 (1) 出现小脑性共济失调和/或意向性震颤伴轻度帕金森病，(2) MRI 上显示小脑中脚 (MCP) 征象、整体小脑和脑萎缩和/或皮质下白质病变，或(3)有脆性X相关疾病、智力障碍、自闭症、卵巢早衰的家族史，并且有与FXTAS一致的神经系统体征。周围神经病变、执行功能缺陷、焦虑或抑郁都支持诊断。这些运动障碍在认知和运动领域的独特特征可以指导医生进行鉴别诊断，并最终更好地对 FXTAS 患者进行医疗管理。
The purpose of this paper is to review the typical cognitive and motor impairments seen in fragile X-associated tremor/ataxia syndrome (FXTAS), essential tremor (ET), Parkinson disease (PD), spinocerebellar ataxias (SCAs), multiple system atrophy (MSA), and progressive supranuclear palsy (PSP) in order to enhance diagnosis of FXTAS patients. We compared the cognitive and motor phenotypes of FXTAS with each of these other movement disorders. Relevant neuropathological and neuroimaging findings are also reviewed. Finally, we describe the differences in age of onset, disease severity, progression rates and average lifespan in FXTAS compared to ET, PD, SCAs, MSA and PSP. We conclude with a flow chart algorithm to guide the clinician in the differential diagnosis of FXTAS. By comparing the cognitive and motor phenotypes of FXTAS with the phenotypes of ET, PD, SCAs, MSA, and PSP we have clarified potential symptom overlap while elucidating factors that make these disorders unique from one another. In summary, the clinician should consider a FXTAS diagnosis and testing for the Fragile X mental retardation 1 (FMR1) gene premutation if a patient over the age of 50 (1) presents with cerebellar ataxia and/or intention tremor with mild parkinsonism, (2) has the middle cerebellar peduncle (MCP) sign, global cerebellar and cerebral atrophy, and/or subcortical white matter lesions on MRI, or (3) has a family history of fragile X related disorders, intellectual disability, autism, premature ovarian failure and has neurological signs consistent with FXTAS. Peripheral neuropathy, executive function deficits, anxiety, or depression are supportive of the diagnosis. Distinct profiles in the cognitive and motor domains between these movement disorders may guide practitioners in the differential diagnosis process and ultimately lead to better medical management of FXTAS patients.
登录
查看更多内容
影响因子：
8.6
作者：
Aarsland, Dag;Marsh, Laura;Schrag, Anette
通讯作者：
Schrag, Anette
影响因子：
8.6
作者：
Anderson, Tim;Luxon, Linda;Bronstein, Adolfo
通讯作者：
Bronstein, Adolfo
影响因子：
2.1
作者：
Al-Hinti, Jomana T.;Nagan, Narasimhan;Harik, Sami I.
通讯作者：
Harik, Sami I.
影响因子：
8.6
作者：
Antoniades, Chrystalina A.;Demeyere, Nele;Hu, Michele T.
通讯作者：
Hu, Michele T.
影响因子：
11
作者：
Aarsland, D;Litvan, I;Larsen, JP
通讯作者：
Larsen, JP