TARDBP Mutations in Motoneuron Disease with Frontotemporal Lobar Degeneration
TARDBP Mutations in Motoneuron Disease with Frontotemporal Lobar Degeneration
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DOI：
10.1002/ana.21612
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发表时间：
2009-04-01
影响因子：
11.2
通讯作者：
Brice, Alexis
中科院分区：
文献类型：
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作者：
Benajiba, Lina;Le Ber, Isabelle;Brice, Alexis
TDP - 43（TAR - DNA结合蛋白）在运动神经元疾病（MND）以及额颞叶变性（FTLD）和与MND相关的FTLD（FTLD - MND）的神经元包涵体中聚集。在编码TDP - 43的TARDBP基因中发现的突变存在于单纯MND患者中。我们现在描述了两名FTLD - MND患者的TARDBP突变，这两名患者表现出FTLD的行为变异型和语义性痴呆，这表明TDP - 43在FTLD疾病中可能也具有直接的致病作用。《神经病学年鉴》2009年；65：470 - 474
TDP-43 (TAR-DNA binding protein) aggregates in neuronal inclusions in motoneuron disease (MND), as well as in frontotemporal lobar degeneration (FTLD) and FTLD associated with MND (FTLD-MND). Mutations in TARDBP gene, coding for TDP-43, were found in patients with pure MND. We now describe TARDBP mutations in two patients with FTLD-MND, presenting with a behavioral variant of FTLD and semantic dementia, suggesting that TDP-43 may also have a direct pathogenic role in FTLD disorders. Ann Neurol 2009;65:470-474