Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer’s disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations

Liu, Yingzi; Xiao, Xuewen; Liu, Hui; Liao, Xinxin; Zhou, Yifei; Weng, Ling; Zhou, Lu; Liu, Xixi; Bi, Xiangyun; Xu, Tianyan; Zhu, Yuan; Yang, Qingda; Zhang, Sizhe; Hao, Xiaoli; Zhang, Weiwei; Wang, Junling; Jiao, Bin; Shen, Lu

doi:10.3389/fnagi.2022.1013295

Cited by 2 publications

(2 citation statements)

References 103 publications

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“…On the other hand, there are several risk genes that are important in the pathogenesis of AD, such as presenilin gene [110], apolipoprotein E gene [111] and APP gene [112]. While offering additional potential therapeutic targets for AD treatment, further studies are warranted to validate these findings.…”

Section: Other Pathogenic Hypothesesmentioning

confidence: 99%

American Ginseng for the Treatment of Alzheimer’s Disease: A Review

et al. 2023

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Alzheimer’s disease (AD) is a prevalent degenerative condition that is increasingly affecting populations globally. American ginseng (AG) has anti-AD bioactivity, and ginsenosides, as the main active components of AG, have shown strong anti-AD effects in both in vitro and in vivo studies. It has been reported that ginsenosides can inhibit amyloid β-protein (Aβ) production and deposition, tau phosphorylation, apoptosis and cytotoxicity, as well as possess anti-oxidant and anti-inflammatory properties, thus suppressing the progression of AD. In this review, we aim to provide a comprehensive overview of the pathogenesis of AD, the potential anti-AD effects of ginsenosides found in AG, and the underlying molecular mechanisms associated with these effects. Additionally, we will discuss the potential use of AG in the treatment of AD, and how ginsenosides in AG may exert more potent anti-AD effects in vivo may be a direction for further research.

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Section: Other Pathogenic Hypothesesmentioning

confidence: 99%

American Ginseng for the Treatment of Alzheimer’s Disease: A Review

et al. 2023

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“…Genotype–phenotype relationships have previously been examined for APP ( 7 ), PSEN1 ( 8 , 9 ), and PSEN2 mutations ( 10 ), but at present, no clear pattern of genotype–phenotype correlation has been well-established in AD. In general, the age at onset (AAO) of AD is relatively consistent within families carrying the same FAD-linked mutations but differs markedly between individuals carrying different mutations.…”

Section: Introductionmentioning

confidence: 99%

Clinical and genetic characteristics in a central-southern Chinese cohort of early-onset Alzheimer's disease

Liang

et al. 2023

Front. Neurol.

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BackgroundMutations in the presenilin-1 (PSEN1), presenilin-2 (PSEN2), and amyloid precursor protein (APP) genes have been commonly identified in early-onset Alzheimer's disease (EOAD). Some of the mutations in the three causative genes, especially the PSEN1 gene, result in variable phenotypes and exhibit clinical heterogeneity among EOAD families.MethodsUsing next-generation sequencing (NGS), we performed genetic screening in a Chinese cohort of 18 patients with EOAD, consisting of five familial EOAD and 13 sporadic cases.ResultsWe identified two likely pathogenic PSEN1 mutations (one novel) and a novel APP mutation in three cases of EOAD, where two are familial and one is sporadic, respectively. In addition, we detected a few variants of uncertain significance (VUS) in several genes, including not only the two known variants in PSEN2 (p.H169N and p.V214L) but also genes causal of other types of dementia or previously identified as risk factors for AD, suggesting the possible involvement of multiple genes in the etiopathology of AD. The patients carrying PSEN1 mutations had an earlier mean age at the onset than those with PSEN2 or APP variants. The initial symptoms varied greatly among patients in the EOAD cohort, from progressive memory impairment and epilepsy to uncommon motor symptoms such as involuntary tremors in the upper extremities.ConclusionsIn conclusion, our study provides further evidence of the genetic profile of patients with EOAD from China and expands the mutation spectrum of both PSEN1 and APP. In addition, our results highlight the clinical heterogeneity in patients with EOAD and mutations in PSEN1, PSEN2, and APP and suggest strong effects of genetic variants on clinical phenotypes. Future functional studies are needed to clarify the interaction between AD-causative gene mutations and phenotypic heterogeneity.

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Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer’s disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations

Cited by 2 publications

References 103 publications

American Ginseng for the Treatment of Alzheimer’s Disease: A Review

American Ginseng for the Treatment of Alzheimer’s Disease: A Review

Clinical and genetic characteristics in a central-southern Chinese cohort of early-onset Alzheimer's disease

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