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.· The Lancet· 1 citation
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.· Alzheimer's & Dementia· 0 citations
Understanding of the genetic architecture of AD in the context of its main genetic driver is improved, and APOE-stratified insights may help understand and overcome side effects, inform clinical trial enrollment strategies, and create the scientific basis for targeted, mechanism-driven therapies in neurodegenerative di...
J. Thomassen, H. Leonard, Brittany Ulms et al.· Nature Genetics· 0 citations
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.· Research Square· 0 citations
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.· American Journal of Human Ge...· 1 citation
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