ArticleAmyotrophic lateral sclerosis & frontotemporal degeneration2018
Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report.
Article in Amyotrophic lateral sclerosis & frontotemporal degeneration, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 23 citations in OpenAlex.
- Neurobehavioral Impacts of the Autism Risk Gene, WAC: Studies Involving C. elegans and Mice.Molecular neurobiology · 2026Article
- Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation.Annals of clinical and translational neurology · 2024Article
- Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.Journal of neuromuscular diseases · 2024Article
- Neuroimmune characterization of optineurin insufficiency mouse model during ageing.Scientific reports · 2023Article
- Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.Brain : a journal of neurology · 2023Article
- Modelling amyotrophic lateral sclerosis in rodents.Nature reviews. Neuroscience · 2022Review
- Nucleocytoplasmic Transport: Regulatory Mechanisms and the Implications in Neurodegeneration.International journal of molecular sciences · 2021Review
- Pathophysiological Underpinnings of Extra-Motor Neurodegeneration in Amyotrophic Lateral Sclerosis: New Insights From Biomarker Studies.Frontiers in neurology · 2021Review
- Novel Optineurin Frameshift Insertion in a Family With Frontotemporal Dementia and Parkinsonism Without Amyotrophic Lateral Sclerosis.Frontiers in neurology · 2021Article
- The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis.Neural regeneration research · 2020Review
- Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.Frontiers in neuroscience · 2020Review
- Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia.Annals of clinical and translational neurology · 2019Article
- ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?Frontiers in neuroscience · 2019Review
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Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
Abstract
Homozygous loss-of-function mutations in optineurin (OPTN) are a rare cause of amyotrophic lateral sclerosis (ALS), whereas heterozygous loss-of-function mutations have been suggested to increase ALS disease risk. We report a patient with ALS and frontotemporal dementia (FTD) from the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium carrying compound heterozygous loss-of-function variants in OPTN. Quantitative real-time mRNA expression analyses revealed a 75-80% reduction in OPTN expression in blood in the OPTN carrier as compared to controls, suggesting at least partial nonsense-mediated decay of the mutant transcripts. This case report illustrates the diverse inheritance patterns and variable clinical presentations associated with OPTN mutations, and underscores the importance of complete OPTN gene screening in patients with ALS and related disorders, especially in the context of clinical genetic testing.
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