ArticleReproductive biology and endocrinology : RB&E2026
Altered spontaneous brain activity is associated with cognitive impairment in patients with Kallmann syndrome.
Article in Reproductive biology and endocrinology : RB&E, 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
14 authors.
Funding
Abstract
objectivesThis study aimed to investigate alterations in spontaneous brain activity in Kallmann syndrome (KS) and their associations with cognitive impairment and genetic mutations.
methodsWe prospectively enrolled 100 patients with KS and 100 matched healthy controls. All participants underwent brain MRI and neuropsychological assessment targeting global cognition (Montreal-Cognitive-Assessment, MoCA), executive function (Stroop-Color-and-Word-Test, SCWT), cognitive flexibility (Trail-Making-Test), and working memory (Digit-Span-Test, DST; Visual-Reproduction, VR). Regional brain activity was quantified using the amplitude of low-frequency fluctuation (ALFF) metric. We further conducted brain-cognition correlations, genetic association analysis with whole-exome sequencing, and extrapolated neuroimaging-transcription-association analysis.
resultsCompared to the controls, patients with KS exhibited significant cognitive deficits across most domains, with 36% reached the clinical cutoff for cognitive impairment. Patients showed increased ALFF predominantly in the fronto-insular executive network and salience network, but decreased ALFF in the cerebellum and left angular gyrus (cluster-level GRF-corrected-p < 0.05). The increased ALFF in fronto-insular regions was positively correlated with MoCA (r = 0.215, FDR-p = 0.037) and SCWT-B (r = 0.253, FDR-p = 0.026), while the reduced ALFF in the left angular gyrus was negatively correlated with VR and DST-forward (r=-0.270, FDR-p = 0.011; r=-0.280, FDR-p = 0.011, respectively). Exploratory genetic analysis revealed that a higher cumulative mutation burden was associated with lower ALFF in cerebellum and angular gyrus, while ANOS1 and PROKR2 mutations mapped to distinct network alterations. Furthermore, the spatial pattern of ALFF alterations was significantly associated with extrapolated gene expression profiles enriched for neurodevelopment and cell migration.
conclusionsThis study found a genetically related trade-off between compensatory executive hyperactivation and dysfunctional brain activity with suppression as a potential neuroimaging biomarker for cognitive impairment risk in patients with KS.
Indexed as
Identifiers
What 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.