Karlstrom Helena, Kwok John B J, Gregory Gillian C, Hallupp Marianne, Brooks William S, Schofield Peter R
Garvan Institute of Medical Research, Sydney, Australia.
Neuroreport. 2007 Aug 6;18(12):1267-9. doi: 10.1097/WNR.0b013e3282405209.
Familial Alzheimer's disease due to presenilin 1 (PSEN1) mutations shows considerable phenotypic variability with differences in neuropathology and neurological symptoms. Spastic paraparesis is a common neurological phenotype associated with Alzheimer's disease arising from PSEN1 mutations. To investigate whether known genes that cause spastic paraparesis could act as Alzheimer's disease-modifier genes, we sequenced nine spastic paraparesis genes in three Alzheimer's disease families with PSEN1 exon 9 deletions. We did not observe any correlation of polymorphisms or mutations in the nine spastic paraparesis genes with the variable phenotype seen in families with Alzheimer's disease and spastic paraparesis. These results suggest a need for a continuing search for genes that cause the phenotypic variation in Alzheimer's disease and spastic paraparesis.
由早老素1（PSEN1）突变引起的家族性阿尔茨海默病表现出相当大的表型变异性，在神经病理学和神经症状方面存在差异。痉挛性截瘫是与PSEN1突变引起的阿尔茨海默病相关的常见神经表型。为了研究已知的导致痉挛性截瘫的基因是否可作为阿尔茨海默病修饰基因，我们对三个患有PSEN1第9外显子缺失的阿尔茨海默病家族中的九个痉挛性截瘫相关基因进行了测序。我们未观察到九个痉挛性截瘫相关基因中的多态性或突变与阿尔茨海默病和痉挛性截瘫家族中所见的可变表型之间存在任何相关性。这些结果表明需要继续寻找导致阿尔茨海默病和痉挛性截瘫表型变异的基因。
