Neurodegenerative diseases articles from across Nature Portfolio

In a prospective cohort of 166 participants (and in a 63-participant validation cohort), dermal α-synuclein and 4-repeat tau seed amplification, combined with serum neurofilament light chain assays, were able to identify parkinsonian syndromes.

The authors developed a multitask deep learning framework integrating domain knowledge with large pretrained models that effectively predicts Alzheimer’s disease diagnosis, cognitive scores and future cognitive decline using only baseline MRI and demographics.

Apolipoprotein E (APOE) is the strongest genetic influence in Alzheimer’s disease (AD). Compared to the most frequent allele, ε3, the ε4 allele increases AD risk, and the ε2 allele is protective. Here, in a multicohort proteomic study, the authors show that APOE ε2 and ε4 are linked to distinct early protein signatures before amyloid pathology, helping explain why they have opposite effects on AD risk.

The proposed clinical features of traumatic encephalopathy syndrome have low predictive value for chronic traumatic encephalopathy pathology, raising significant concern for incorrect diagnoses of neurodegeneration in former athletes.

Islam, Adnan and Abdelkader develop PARK, an artificial intelligence tool that screens for Parkinson’s disease using short webcam recordings of facial, motor, and speech tasks. Across 8 studies involving 1,865 participants, there is 80% accuracy in detecting Parkinson’s disease and strong agreement with clinician assessments.

Newborn screening for spinal muscular atrophy (SMA) has changed the diagnostic paradigm for children with the condition, yet delays in implementation are causing inequities within the SMA community. A unified global approach is needed to implement screening and mitigate the barriers in access to high-cost treatments.

The apolipoprotein E ε3 Christchurch variant provides remarkable resilience against Alzheimer disease by limiting tau propagation and suppressing neuroinflammation. New research reveals that this protection extends to the periphery, where ‘lipid-loaded’ extracellular vesicles stabilize the blood–brain barrier, which offers a novel systemic mechanism for developing potent disease-modifying therapies.

Butyrate prevents accumulation of amyloid-β pathology in the gut and brain in a mouse model of Alzheimer disease, research has shown.

In this World View, María E. Garay-Serratos recounts how her mother developed chronic traumatic encephalopathy following decades of domestic violence. She describes her quest to obtain a conclusive diagnosis for her mother and calls for increased awareness of and research into the link between domestic violence and chronic traumatic encephalopathy.