ArticleClinical interventions in aging2020
Genetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing.
Article in Clinical interventions in aging, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
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- Clinical features and biomarkers of semantic variant primary progressive aphasia with MAPT mutation.Alzheimer's research & therapy · 2023Article
- Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer's disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations.Frontiers in aging neuroscience · 2022Article
- Dementia in Southeast Asia: influence of onset-type, education, and cerebrovascular disease.Alzheimer's research & therapy · 2021Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveEarly-onset dementia (EOD) is a relatively uncommon form of dementia that afflicts people before age 65. Only a few studies analyzing the genetics of EOD have been performed in the Chinese Han population. Diagnosing EOD remains a challenge due to the diverse genetic and clinical heterogeneity of these diseases. The aim of this study was to investigate the genetic spectrum and clinical features of Chinese patients with EOD. MATERIALS AND
methodsA total of 49 EOD patients were recruited. Targeted next-generation (NGS) analyses were performed to screen for all of the known genes associated with dementia. Possible pathogenic variants were confirmed by performing Sanger sequencing. The genetic spectrum and clinical features of the EOD patients were analyzed.
resultsSeven previously reported pathogenic variants (p.I213T and p.W165C in
conclusionOur study demonstrated the genetic spectrum and clinical features of EOD patients, and it reveals that genetic testing of known causal genes in EOD patients can help to make a precise diagnosis.
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