A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease
A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease
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DOI：
10.1002/ana.20393
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发表时间：
2005-03-01
影响因子：
11.2
通讯作者：
Takahashi, H
中科院分区：
文献类型：
--
作者：
Ishikawa, A;Piao, YS;Takahashi, H
我们报告一位52岁的男性，其祖父和父亲都患有类似的神经系统疾病，其早发性帕金森症和痴呆症持续了18年。在这个病人中，我们发现在不同的大脑区域，包括黑质和大脑皮层，路易体，棉絮斑块，皮质脊髓束变性，脑淀粉样血管病，和一个新的三个碱基对缺失的外显子12的早老素-1（PSEN 1）基因的神经元损失。我们认为突变的PSEN 1可能在α-突触核蛋白聚集成Lewy小体和β-淀粉样蛋白沉积成棉絮斑的发病过程中起重要作用。
We report early-onset parkinsonism and dementia of 18 years' duration in a 52-year-old man whose grandfather and father had suffered from a similar neurological disease. In this patient, we found neuronal loss in various brain regions including the substantia nigra and cerebral cortex, Lewy bodies, cotton wool plaques, corticospinal tract degeneration, cerebral amyloid angiopathy, and a novel three-base pair deletion in exon 12 of the presenilin-1 (PSEN1) gene. We considered that the mutant PSEN1 might play an important role in the pathogenetic process of both aggregation of a-synuclein into Lewy bodies and deposition of beta-amyloid into cotton wool plaques.