Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation
Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation
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DOI：
10.1016/j.neurobiolaging.2016.02.019
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发表时间：
2016-05-01
影响因子：
4.2
通讯作者：
Santana, Isabel
中科院分区：
文献类型：
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作者：
Almeida, Maria R.;Macario, Maria C.;Santana, Isabel
我们和其他人报道了杂合颗粒蛋白前体突变是额颞叶变性（FTLD）的重要原因。它已被确定为一个完整的颗粒蛋白前体缺乏症，因为一个纯合子突变的同胞对神经元蜡样质脂褐质沉积症（NCL）。在这里，我们描述了第一例NCL引起的纯合子颗粒蛋白前体突变分离在一个家庭与神经病理学证实的FTLD。在这个FTLD-NCL家族中，我们详细描述了我们的先证者携带纯合突变c.900_901dupGT的临床表型、神经心理学评估和影像学资料，其血清颗粒蛋白前体水平（
We and others have reported heterozygous progranulin mutations as an important cause of frontotemporal lobar degeneration (FTLD). It has been identified a complete progranulin deficiency because of a homozygous mutation in a sibling pair with neuronal ceroid lipofuscinosis (NCL). Here, we describe the first case of NCL caused by a homozygous progranulin mutation segregating in a family with neuropathological confirmed FTLD. In this FTLD-NCL family, we detail the clinical phenotype, neuropsychological evaluation and imaging data of our proband harboring a homozygous mutation, c.900_901dupGT, with serum progranulin level (