ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2026
Association between C9orf72 G4C2 repeat length and idiopathic Parkinson's disease in a Turkish cohort.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
Abstract
backgroundIntermediate C9orf72 G4C2 repeat lengths have been proposed as potential modifiers of Parkinson's disease susceptibility; however, reported associations vary across populations and have not been evaluated in Turkish patients.
methodsThis case-control study included 136 patients with idiopathic Parkinson's disease (PD) and 100 neurologically healthy controls from Türkiye. C9orf72 G4C2 repeat length was assessed by fragment length analysis and repeat-primed PCR. A prespecified, population-informed ≥ 8-repeat threshold, derived from prior haplotype evidence, was evaluated together with a local sensitivity analysis across ≥ 6-≥10 repeats.
resultsNo participant carried a pathogenic C9orf72 expansion (≥ 30 repeats). Repeat counts ranged from 2 to 13 in patients and 2 to 10 in controls. The overall repeat-length distribution did not differ between groups (p = 0.126), whereas the three-category genotype distribution differed between groups (p = 0.033). Carriers of at least one allele with ≥ 8 repeats were more frequent among patients than controls (32/136 [23.5%] vs. 12/100 [12.0%]; OR 2.256, 95% CI 1.097-4.643; p = 0.038). Across the ≥ 6-≥10 sensitivity window, point estimates remained above unity, although 95% confidence intervals excluded unity only at ≥ 7 and ≥ 8.
conclusionsA prespecified but exploratory ≥ 8-repeat carrier analysis showed higher odds of idiopathic PD, with a similar carrier signal observed at the adjacent ≥ 7 threshold. Together with the non-significant findings from the overall repeat-length distribution and continuous repeat-number analyses, these findings suggest a preliminary, threshold-sensitive susceptibility signal rather than a discrete PD-specific cutoff. Replication in larger independent cohorts with haplotype analysis, broader PD gene screening, and functional investigation is required.
Indexed as
Identifiers
42816700What OpenQuestion holds
Registered trials
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.