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P. Scheltens

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Open access Jul 2026

Neuropsychological profiles and behavioural correlates in individuals exposed to repetitive head impacts: findings from the NEwTON study

Repetitive head impacts (RHI) are associated with an increased risk of neurodegenerative disease, most notably chronic traumatic encephalopathy (CTE). This study characterized neuropsychological profiles of RHI-exposed individuals compared to unexposed controls. To investigate whether cognitive dysfunction is linked to behavioural symptoms in RHI, we examined associations between executive functioning, social cognition and behavioural disinhibition. We included RHI-exposed individuals ( N  = 72, 90.4% male, mean age 53.84 ± 12.45) and unexposed, cognitively healthy controls ( N  = 40, 82.5% male, mean age 54.55 ± 12.12) from the “Neurodegeneration: Traumatic brain injury as the Origin of Neuropathology” (NEwTON) study from Amsterdam UMC. Neurocognitive functioning was assessed through a comprehensive test battery covering episodic memory, attention and processing speed, executive functioning, visuospatial abilities, language and semantic memory, and social cognition. Behavioural disinhibition was measured in the RHI group using informant-based questionnaires (the positive items of the Frontal Behavioural Inventory (FBI) and the Neuropsychiatric Inventory (NPI)). Group differences in cognitive domains were assessed with analysis of covariance (ANCOVA) corrected for age, sex and education. The RHI-exposed group was evaluated for Traumatic Encephalopathy Syndrome (TES) criteria (No TES, Suggestive of CTE, Possible CTE, Probable CTE), TES subgroups were exploratively compared on cognitive performance. Associations between behavioural disinhibition and executive functioning or social cognition were assessed with regression analyses. RHI-exposed individuals performed worse on episodic memory (η 2  = 0.12, p FDR  ≤ .001), language and semantic memory (η 2  = 0.10, p FDR  = .001), executive functioning (η 2  = 0.04, p FDR  = .046), and social cognition (η 2  = 0.04, p FDR  = .040). No differences were found for visuospatial abilities (η 2  = 0.01, p FDR  = .221) and, although borderline significant, attention and processing speed (η 2  = 0.03, p FDR  = .074). Greater TES severity was associated with poorer performance on all cognitive domains. No significant associations were found between executive function or social cognition and behavioural disinhibition, as measured with the NPI and the FBI positive subscale (all p  > .05). RHI-exposed individuals showed poorer cognitive performance across several domains (episodic memory, executive functioning, social cognition and language and semantic memory). We found no association between cognitive function and behavioural disinhibition. Further longitudinal studies employing neuroimaging and biomarker data are needed to disentangle the underlying pathology in populations at risk for CTE.

S. Kamps, Esmé H. J. Habraken, S. van Amerongen et al. · 0 citations
Open access Aug 2026

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

Copy-number variants (CNVs) are major contributors to human disease. In Alzheimer disease (AD), APP duplications cause autosomal-dominant forms, but the role of CNVs in non-monogenic AD remains poorly characterized. We analyzed rare CNVs (frequency <1%) from 22,319 exomes (4,150 early-onset AD [EOAD, ≤65 years], 8,519 late-onset AD [LOAD], 9,650 unaffected control subjects) using harmonized calling and quality control. After identifying 17 individuals with a pathogenic CNV, we performed exome-wide and gene-set burden analyses. EOAD-affected individuals showed increased burdens of rare CNVs affecting coding genes, particularly deletions in AD-related genes. Integrated loss-of-function (LoF) analysis gathering short truncating variants with deletions showed that ABCA1 (odds ratio [OR] = 5.77 [95% confidence interval 2.25; 17.06], p = 0.0002) and ABCA7 deletions contribute to this deletion burden (OR = 2.29 [1.44; 3.65], p = 0.0006), while CTSB LoF alleles appear as candidates (OR = 5.03 [1.50; 20.71], p = 0.0089). We then performed exome-wide gene-level dosage analysis and highlighted 18 genes across five loci with a false discovery rate of <10%, including the 22q11.21 central region, where deletions were restricted to EOAD (including one de novo event) and duplications were enriched in control individuals, with intermediate frequencies in LOAD. We narrowed this locus to the SCARF2-KLHL22-MED15 region after integrating short truncating variants. Replication in 33,977 affected individuals and 362,322 control subjects confirmed association for 22q11.21 dosage with exome-wide significance (ORSCARF2 = 0.34 [0.21; 0.53]; mega-p value = 5.52 × 10-7). SCARF2 overexpression significantly increased amyloid-β uptake, congruent with duplication-associated decreased AD risk. We conclude that rare coding CNVs in a proportion of AD-associated genes and 22q11.21 deletions, including some found in DiGeorge syndrome, increase AD risk. Conversely, we identify 22q11.21 duplication as a strong AD-risk-decreasing factor.

O. Quenez, Catherine Schramm, K. Cassinari et al. · 1 citation

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