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O. Belbin

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Open access Sep 2026

Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical study.

BACKGROUND As individuals with Down syndrome age, they face high risks of Alzheimer's disease and epilepsy. With symptomatic Alzheimer's disease, late-onset myoclonic epilepsy in Down syndrome (LOMEDS) often emerges. We aimed to examine how epilepsy develops in Down syndrome, its timing relative to Alzheimer's disease...

Lucía Maure-Blesa, M. Carmona-Iragui, I. Barroeta et al. · 1 citation
Open access Sep 2026

Changes in serum β‐synuclein precede blood biomarkers of Alzheimer pathology in Down syndrome

There is a need for early, objective markers of Alzheimer's disease (AD)‐related synapse dysfunction in adults with Down syndrome (DS). The presynaptic protein β‐synuclein is elevated in the blood of adults with DS. This study evaluates the positioning of these changes relative to changes in pathophysiological blood bi...

Alba Cervantes González, A. Morcillo-Nieto, Sara Serrano et al. · 0 citations
Open access Aug 2026

Methodological insights and clinical outcomes in ALS and FTLD: lessons from the SPIN cohort

Amyotrophic lateral sclerosis and frontotemporal lobar degeneration constitute a clinico‐genetic‐neuropathological continuum with marked heterogeneity and large, multimodal cohorts are needed to advance biomarker discovery and precision medicine.

Á. Carbayo, J. Turon-Sans, D. Alcolea et al. · 0 citations
Open access Aug 2026

Pre-dementia clinical trajectories associated with neuronal α-synuclein neuropathologic change: a retrospective cohort study

Heterogeneous pre-dementia trajectories are revealed and support is shown for combining α-synuclein detection with Alzheimer biomarkers, cognitive staging and multidomain clinical measures to improve prognosis and trial design are supported.

I. Illán-Gala, E. Vera, J. Selma-González 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.

It is concluded that rare coding CNVs in a proportion of AD-associated genes and 22q11.21 duplication as a strong AD-risk-decreasing factor increase AD risk and Conversely, 22q11.21 duplication as a strong AD-risk-decreasing factor is identified.

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

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