Genome sequence analyses identify novel risk loci for multiple system atrophy

R Chia, A Ray, Z Shah, J Ding, P Ruffo, M Fujita… - Neuron, 2024 - cell.com
Multiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by
parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is …

Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy

H Wang, TS Chang, BA Dombroski, PL Cheng… - Molecular …, 2024 - Springer
Background Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease
characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and …

Pathomechanisms of neuropsychiatric disturbances in atypical parkinsonian disorders: a current view

KA Jellinger - Journal of Neural Transmission, 2025 - Springer
Multiple system atrophy (MSA), corticobasal degeneration (CBD) and progressive
supranuclear palsy (PSP) are the most common atypical parkinsonisms. These adult-onset …

Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes

F Küçükali, E Hill, T Watzeels, H Hummerich… - Brain, 2025 - academic.oup.com
Prions are assemblies of misfolded prion protein that cause several fatal and transmissible
neurodegenerative diseases, with the most common phenotype in humans being sporadic …

Evidence for trans-synaptic propagation of oligomeric tau in Progressive Supranuclear Palsy

RI McGeachan, L Keavey, JL Rose, EM Simzer… - medRxiv, 2022 - medrxiv.org
Synaptic function is essential for cognition and loss of synapses is observed in
neurodegenerative tauopathies including Progressive Supranuclear Palsy (PSP) …

A Novel Susceptibility Locus in NFASC Highlights Oligodendrocytes and Myelination in Progressive Supranuclear Palsy Pathology

P García-González, HR Lara, Y Compta, M Fernandez… - medRxiv, 2024 - medrxiv.org
We conducted the largest PSP GWAS of the Iberian population to date (522 cases from 22
Spanish and Portuguese institutions). We independently replicated seven known PSP risk …

Characterization of isolated human astrocytes from aging brain

GE Serrano, S Aslam, JE Walker, IS Piras… - medRxiv, 2025 - medrxiv.org
Astrocytes have multiple crucial roles, including maintaining brain homeostasis and synaptic
function, performing phagocytic clearance and responding to injury and repair. It has been …

Tau accumulation patterns in PSP constrain mechanisms and quantify cell-to-cell and cell-autonomous aggregation rates

SH Huang, A Quaegebeur, T Pansuwan, T Rittman… - medRxiv, 2024 - medrxiv.org
Protein aggregates are a hallmark of neurodegenerative disease, yet the molecular
processes that control their appearance are still poorly understood. In particular, it is …

DNA methylation as a contributor to dysregulation of STX6 and other frontotemporal lobar degeneration genetic risk-associated loci

N Rambarack, K Fodder, M Murthy, C Toomey… - bioRxiv, 2025 - biorxiv.org
Abstract Frontotemporal Lobar Degeneration (FTLD) represents a spectrum of clinically,
genetically, and pathologically heterogeneous neurodegenerative disorders characterised …

Intracellular Trafficking SNARE Protein, Syntaxin-6, is a Modifier of Prion and Tau Pathogenesis in vivo and in Cellular Models

E Hill, M Patel, JM Ribes, J Linehan, F Zhang… - bioRxiv, 2025 - biorxiv.org
Syntaxin-6, a SNARE protein involved in intracellular protein trafficking, is a proposed risk
factor for sporadic prion disease, progressive supranuclear palsy and Alzheimer's disease …