排序方式: 共有4条查询结果,搜索用时 187 毫秒
1
1.
M Mullan H Houlden M Windelspecht L Fidani C Lombardi P Diaz M Rossor R Crook J Hardy K Duff 《Nature genetics》1992,2(4):340-342
Although mutations in the beta-amyloid precursor protein gene (APP) on chromosome 21 cause some cases of early-onset Alzheimer's disease (AD), most cases evidently do not have mutations in APP. We analysed ten early-onset families for linkage to APP and markers elsewhere in the genome. One family (F172) was consistent with linkage to chromosome 21 and was subsequently found to have an APP Val to Ile mutation. Of the others, all but one were consistent with linkage to markers in the middle long arm of chromosome 14. However, no family showed independent evidence of linkage with two point analysis and only one showed independent evidence of linkage on multipoint analysis. Therefore, we cannot rule out heterogeneity at these loci although tests for heterogeneity were not significant. 相似文献
2.
3.
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia 总被引:21,自引:0,他引:21
Skibinski G Parkinson NJ Brown JM Chakrabarti L Lloyd SL Hummerich H Nielsen JE Hodges JR Spillantini MG Thusgaard T Brandner S Brun A Rossor MN Gade A Johannsen P Sørensen SA Gydesen S Fisher EM Collinge J 《Nature genetics》2005,37(8):806-808
We have previously reported a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). Here we identify a mutation in CHMP2B, encoding a component of the endosomal ESCRTIII complex, and show that it results in aberrant mRNA splicing in tissue samples from affected members of this family. We also describe an additional missense mutation in an unrelated individual with FTD. Aberration in the endosomal ESCRTIII complex may result in FTD and neurodegenerative disease. 相似文献
4.
Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene 总被引:44,自引:0,他引:44
M C Chartier-Harlin F Crawford H Houlden A Warren D Hughes L Fidani A Goate M Rossor P Roques J Hardy 《Nature》1991,353(6347):844-846
A mutation at codon 717 of the beta-amyloid precursor protein gene has been found to cosegregate with familial Alzheimer's disease in a single family. This mutation has been reported in a further five out of approximately 100 families multiply affected by Alzheimer's disease. We have identified another family, F19, in which we have detected linkage between the beta-amyloid precursor protein gene and Alzheimer's disease. Direct sequencing of exon 17 in affected individuals from this family has revealed a base change producing a Val----Gly substitution, also at codon 717. The occurrence of a second allelic variant at codon 717 linked to the Alzheimer's phenotype supports the hypothesis that they are pathogenic mutations. 相似文献
1