Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease.
Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease.
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MAPT P.A152T载体中的神经退行性疾病表型，这是额颞痴呆谱系和阿尔茨海默氏病的危险因素。
DOI：
10.1097/wad.0b013e31828cc357
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发表时间：
2013-10
影响因子：
2.1
通讯作者：
Miller BL
中科院分区：
文献类型：
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作者：
Lee SE;Tartaglia MC;Yener G;Genç S;Seeley WW;Sanchez-Juan P;Moreno F;Mendez MF;Klein E;Rademakers R;López de Munain A;Combarros O;Kramer JH;Kenet RO;Boxer AL;Geschwind MD;Gorno-Tempini ML;Karydas AM;Rabinovici GD;Coppola G;Geschwind DH;Miller BL
最近，Coppola和他的同事在15,369名受试者中证明了一种罕见的MAPT序列变体c.454G>；A(p.A152T)显著增加了额颞叶痴呆(FTD)谱系障碍和阿尔茨海默病(AD)的风险。我们描述了9例神经退行性疾病患者(4例女性)的临床特征，发病时年龄51~79岁。临床表现为进行性核上性瘫痪综合征(PSP，n=2)、行为变异型FTD(bvFTD，n=1)、非流利变异型原发进行性失语(nfvPPA，n=2)、皮质-基底综合征(CBS，n=2)等7种临床症状，2例诊断为临床AD。因此，MAPT p.A152T与各种FTD谱临床表现相关，尽管临床AD患者也被发现。这些数据需要进行更大规模的临床病理相关研究，以阐明这种基因变异对神经退行性疾病的影响。
Recently, Coppola and colleagues demonstrated that a rare MAPT sequence variant, c.454G>A (p.A152T), significantly increases the risk of frontotemporal dementia (FTD) spectrum disorders and Alzheimer's disease (AD) in a screen of 15,369 subjects. We describe clinical features of 9 patients with neurodegenerative disease (4 women) harboring p.A152T, aged 51 to 79 years at symptom onset. Seven developed FTD spectrum clinical syndromes, including progressive supranuclear palsy syndrome (PSP, n=2), behavioral variant FTD (bvFTD, n=1), nonfluent variant primary progressive aphasia (nfvPPA, n=2), and corticobasal syndrome (CBS, n=2); two patients were diagnosed with clinical AD. Thus, MAPT p.A152T is associated with a variety of FTD spectrum clinical presentations, although patients with clinical AD are also identified. These data warrant larger studies with clinicopathological correlation to elucidate the influence of this genetic variant on neurodegenerative disease.