Research

Peak width of skeletonized mean diffusivity reveals early and multifactorial white matter injury across sporadic and Down syndrome–associated Alzheimer’s disease

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White matter alterations are commonly observed in Alzheimer’s disease (AD) and reflect a convergence of several pathological processes, including myelin loss, axonal degeneration, and microvascular injury. Peak width of skeletonized mean diffusivity (PSMD) is a diffusion MRI–derived metric of diffuse white matter injury that has demonstrated high sensitivity to microstructural damage. However, the timing of … Read more

Temporal dynamics of white matter hyperintensities related to Alzheimer’s disease in adults with Down syndrome

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Temporal dynamics white hyperintensities Down Syndrome - Sant Pau Memory Unit - Alzheimer - Barcelona

White matter hyperintensities (WMH) White matter hyperintensities (WMH) are brain lesions visible on MRI that have traditionally been linked to vascular disease. In a previous study from our group, we showed that WMH burden increases approximately 10 years before the onset of Alzheimer’s disease (AD) symptoms in people with Down syndrome (DS) and continues to … Read more

New reference values for cognitive normality allow earlier detection in one of every five cases of mild cognitive impairment

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The first step in the diagnostic workup of individuals presenting with cognitive symptoms is to determine whether there is objective cognitive impairment. Ideally, this is done through a neuropsychological evaluation: a battery of cognitive tests in which the patient’s performance is interpreted as normal or abnormal as compared to reference values. These reference values are … Read more

Study of brain perfusion in adults with Down syndrome along the Alzheimer’s disease continuum

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Cerebral perfusion is the amount of blood reaching a given brain region at any given time. In other words, it is the “irrigation” that supplies neurons with oxygen and nutrients. When perfusion decreases or becomes abnormally distributed, it may indicate that an area is beginning to deteriorate, even before clinical symptoms or signs of atrophy … Read more

Association of plasma phosphorylated tau 217 with clinical deterioration across Alzheimer disease stages

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Blood biomarkers have become a key tool for diagnosing Alzheimer’s disease in a more accessible way. While plasma p-tau217 is already established as a strong diagnostic marker, little was known about its ability to predict how the disease progresses across different clinical stages. In this study, published in Neurology, we show that plasma p-tau217 is … Read more

On the complexity of biomarker-driven diagnoses of Alzheimer’s disease

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New biomarker-centric diagnostic frameworks for Alzheimer’s disease promise earlier detection but risk over-medicalising people who may never decline. Grasso, Santos-Santos and Clark contend that amyloid-β or phosphorylated-tau positivity in cognitively normal adults should be treated as an _elevated risk_ rather than a definitive diagnosis, and they show why cognitive reserve, sociocultural context and structural inequities … Read more