ArticleNeuro-degenerative diseases2016
C9orf72 Hexanucleotide Repeat Analysis in Cases with Pathologically Confirmed Dementia with Lewy Bodies.
Article in Neuro-degenerative diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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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
6 citing papers in PubMed, 8 citations in OpenAlex.
- Mechanisms of Neurodegeneration in Various Forms of Parkinsonism-Similarities and Differences.Cells · 2021Review
- The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions.Current neurology and neuroscience reports · 2018Review
- Intermediate C9orf72 alleles in neurological disorders: does size really matter?Journal of medical genetics · 2017Review
- Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.Neurobiology of aging · 2017Article
- Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies.Neurobiology of disease · 2016Article
- C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.Movement disorders clinical practiceReview
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundDementia with Lewy bodies (DLB) is the second most common neurodegenerative dementia affecting the elderly. The GGGGCC hexanucleotide expansion mutation at the C9orf72 locus has been identified as a major cause of amyotrophic lateral sclerosis and frontotemporal dementia, raising the question of whether this mutation is a factor in DLB. Furthermore, a small number of clinically diagnosed DLB patients have previously been reported to carry the pathologic C9orf72 hexanucleotide repeat expansion.
objectiveTo explore whether the C9orf72 mutation is present in pathologically confirmed DLB patients.
methodsWe screened a cohort of 111 definite DLB cases with extensive Lewy body pathology for the C9orf72 hexanucleotide repeat expansion using the repeat-primed polymerase chain reaction assay.
resultsNo pathogenic expansions of the C9orf72 hexanucleotide repeat were found, suggesting that there is no causal relationship between C9orf72 and DLB.
conclusionOur data illustrate that C9orf72 screening of clinically diagnosed DLB patients should only be considered in cases with a family history of motor neuron disease or frontotemporal dementia to distinguish between mimic diseases.
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Registered trials
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