Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis
Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis
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DOI：
10.1371/journal.pone.0153852
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发表时间：
2016-04-21
期刊：
影响因子：
3.7
通讯作者：
Kleiner-Fisman, Galit
中科院分区：
文献类型：
--
作者：
Gasca-Salas, Carmen;Masellis, Mario;Kleiner-Fisman, Galit
背景颗粒蛋白(PGRN)和tau(MAPT)突变以及C9orf72基因附近的六核苷酸重复序列扩张是额颞叶退行性变最常见的遗传原因。虽然行为、语言和运动表现形式是常见的，但遗传亚群和运动障碍现象学之间的关系尚不清楚。目的对遗传性额颞叶退行性变中运动障碍的谱系和患病率的文献进行系统的回顾和荟萃分析。当病例被证明有遗传原因时，文章就会被包括在内。使用Freeman-Tukey反正弦变换对临床特征的特定研究的患病率估计值进行转换，从而允许使用随机效应模型生成患病率的综合估计值。
BackgroundMutations in granulin (PGRN) and tau (MAPT), and hexanucleotide repeat expansions near the C9orf72 genes are the most prevalent genetic causes of frontotemporal lobar degeneration. Although behavior, language and movement presentations are common, the relationship between genetic subgroup and movement disorder phenomenology is unclear.ObjectiveWe conducted a systematic review and meta-analysis of the literature characterizing the spectrum and prevalence of movement disorders in genetic frontotemporal lobar degeneration.MethodsElectronic databases were searched using terms related to frontotemporal lobar degeneration and movement disorders. Articles were included when cases had a proven genetic cause. Study-specific prevalence estimates for clinical features were transformed using Freeman-Tukey arcsine transformation, allowing for pooled estimates of prevalence to be generated using random-effects models.ResultsThe mean age at onset was earlier in those with MAPT mutations compared to PGRN (p