ReviewActa neuropathologica2019
The role of de novo mutations in adult-onset neurodegenerative disorders.
Review in Acta neuropathologica, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
34 citing papers in PubMed, 49 citations in OpenAlex.
- Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios.Molecular psychiatry · 2026Article
- Advances in Alzheimer's disease: mechanistic insights and therapeutic targets.Science China. Life sciences · 2026Review
- Genetic analysis of neurodegenerative diseases.The Journal of clinical investigation · 2026Review
- Antisense oligonucleotides to KIF1A polymorphisms expand targets and rescue patient-derived neurons in vitro.Nature communications · 2026Article
- Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.European journal of neurology · 2026Article
- Efficient identification of de novo mutations in family trios: a consensus-based informatic approach.Life science alliance · 2025Article
- Detection of Genetic Variants in Thai Population by Trio-Based Whole-Genome Sequencing Study.Biology · 2025Article
- Scrutinizing neurodegenerative diseases: decoding the complex genetic architectures through a multi-omics lens.Human genomics · 2024Review
- TRGT-denovo: accurate detection ofbioRxiv : the preprint server for biology · 2024Article
- Automated Identification of GermlinebioRxiv : the preprint server for biology · 2024Article
- Phenotype and imaging features associated with APP duplications.Alzheimer's research & therapy · 2023Article
- AnotherFrontiers in genetics · 2023Article
- Patterns and distribution of de novo mutations in multiplex Middle Eastern families.Journal of human genetics · 2022Article
- Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases.Biomedicines · 2022Review
- Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology.Neurology. Genetics · 2022Review
- A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics.Acta neuropathologica communications · 2022Article
- De novo mutations inJournal of neurology, neurosurgery, and psychiatry · 2022Article
- Sporadic Creutzfeldt-Jakob disease with extremely long 14-year survival period.European journal of neurology · 2021Article
- Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.Nature medicine · 2021Article
- Next-Generation Sequencing Technologies and Neurogenetic Diseases.Life (Basel, Switzerland) · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The genetic underpinnings of the most common adult-onset neurodegenerative disorders (AOND) are complex in majority of the cases. In some families, however, the disease can be inherited in a Mendelian fashion as an autosomal-dominant trait. Next to that, patients carrying mutations in the same disease genes have been reported despite a negative family history. Although challenging to demonstrate due to the late onset of the disease in most cases, the occurrence of de novo mutations can explain this sporadic presentation, as demonstrated for severe neurodevelopmental disorders. Exome or genome sequencing of patient-parent trios allows a hypothesis-free study of the role of de novo mutations in AOND and the discovery of novel disease genes. Another hypothesis that may explain a proportion of sporadic AOND cases is the occurrence of a de novo mutation after the fertilization of the oocyte (post-zygotic mutation) or even as a late-somatic mutation, restricted to the brain. Such somatic mutation hypothesis, that can be tested with the use of novel sequencing technologies, is fully compatible with the seeding and spreading mechanisms of the pathological proteins identified in most of these disorders. We review here the current knowledge and future perspectives on de novo mutations in known and novel candidate genes identified in the most common AONDs such as Alzheimer's disease, Parkinson's disease, the frontotemporal lobar degeneration spectrum and Prion disorders. Also, we review the first lessons learned from recent genomic studies of control and diseased brains and the challenges which remain to be addressed.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.