Parkinsonian syndrome in familial frontotemporal dementia.
Parkinsonian syndrome in familial frontotemporal dementia.
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DOI：
10.1016/j.parkreldis.2014.06.004
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发表时间：
2014-09
影响因子：
4.1
通讯作者：
Wszolek ZK
中科院分区：
文献类型：
--
作者：
Siuda J;Fujioka S;Wszolek ZK
额颞叶痴呆（FTD）中的帕金森综合征首先在微管相关蛋白tau（MAPT）和颗粒蛋白前体（PRGN）基因突变的家族中描述。此后，已确定FTD伴帕金森综合征的其他几个基因突变，包括9号染色体开放阅读框72（C9 ORF 72）、染色质修饰蛋白2B（CHMP 2B）、含缬羟菌素蛋白（VCP）、肉瘤融合蛋白（FUS）和反式DNA结合蛋白（TARDBP）。家族性FTD伴帕金森综合征患者的临床表现差异很大。FTD患者中观察到的帕金森综合征通常以运动不能-僵直综合征为特征，主要与FTD的行为变体（bvFTD）相关;然而，一些病例可能表现为经典帕金森病。在其他情况下，非典型帕金森症类似进行性核上性麻痹（PSP）或皮质基底综合征（CBS）也有描述。虽然罕见，但FTD中的帕金森症可能与运动神经元疾病共存。对于FTD诊断至关重要的结构神经影像学显示了与特定突变相关的脑萎缩特征模式。结构神经影像学对区分具有帕金森病特征的患者没有帮助。此外，多巴胺能成像显示FTD伴帕金森综合征的黑质纹状体神经变性，但不能区分不同突变引起的帕金森综合征。一般来说，FTD中的帕金森症是左旋多巴无反应，但也有报告暂时获益的病例，因此多巴胺能治疗值得尝试，特别是当运动和非运动表现可能导致日常功能严重问题时。在这篇综述中，我们提出了最新的临床和遗传相关性的FTD与帕金森氏症。
Parkinsonism in frontotemporal dementia (FTD) was first described in families with mutations in the microtubule-associated protein tau (MAPT) and progranulin (PRGN) genes. Since then, mutations in several other genes have been identified for FTD with Parkinsonism, including chromosome 9 open reading frame 72 (C9ORF72), chromatin modifying protein 2B (CHMP2B), valosin-containing protein (VCP), fused in sarcoma (FUS) and transactive DNA-binding protein (TARDBP). The clinical presentation of patients with familial forms of FTD with Parkinsonism is highly variable. The Parkinsonism seen in FTD patients is usually characterized by akinetic-rigid syndrome and is mostly associated with the behavioral variant of FTD (bvFTD); however, some cases may present with classical Parkinson’s disease. In other cases, atypical Parkinsonism resembling progressive supranuclear palsy (PSP) or corticobasal syndrome (CBS) has also been described. Although rare, Parkinsonism in FTD may coexist with motor neuron disease. Structural neuroimaging, which is crucial for the diagnosis of FTD, shows characteristic patterns of brain atrophy associated with specific mutations. Structural neuroimaging is not helpful in distinguishing among patients with parkinsonian features. Furthermore, dopaminergic imaging that shows nigrostriatal neurodegeneration in FTD with Parkinsonism cannot discriminate parkinsonian syndromes that arise from different mutations. Generally, Parkinsonism in FTD is levodopa unresponsive, but there have been cases where a temporary benefit has been reported, so dopaminergic treatment is worth trying, especially, when motor and non-motor manifestations can cause significant problems with daily functioning. In this review, we present an update on the clinical and genetic correlations of FTD with Parkinsonism.
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