A novel link between TSC and AD that substantiates shared downstream neurodegenerative pathways is suggested and the potential utility of ptau-217 as a minimally invasive biomarker for TAND severity, neurodegenerative risk, and AD-like prognosis in TSC is supported and as a tool to guide new mTOR-targeted therapeutic strategies.
Findings identify complement dysregulation, especially involving C1q, as an early correlate of tau-linked synaptic pathology, and support a role for complement activation in the AD molecular cascade.
J. Loncke, M. Savard, C. Picard et al.· bioRxiv· 0 citations
A practical multi-axis framework comprising clinical phenotype, AD biological context (AD pathology plus co-pathologies and molecular modifiers), network topography (regional patterns) and tempo (rate of clinical and biomarker progression) is proposed to reduce diagnostic mismatches, make cohorts more comparable and su...
L. Grinberg, M. Murray· Nature Reviews Neurology· 0 citations
Alzheimer’s disease (AD) is characterized by the accumulation of amyloid-β (Aβ) plaques and tau pathology, with mTORC1 hyperactivation implicated in disease pathogenesis via suppression of autophagy. However, systematic evidence regarding its key upstream repressor, TSC1, in human AD brains remains limited....
Zheng-Zhao Liu, Yu-Chen Yu, Yu Wang et al.· Frontiers in Aging Neuroscie...· 0 citations
Alzheimer’s disease (AD) is the leading cause of dementia and a heterogeneous neurodegenerative disorder characterized by amyloid-β (Aβ) and tau pathology, impaired proteostasis, neurovascular dysfunction, maladaptive glial and immune responses, and synaptic dysfunction. Human genetic evidence supports an upstream role...
A genome‐wide association study of tau‐related neurodegeneration identified two novel genetic variants in the loci AKAP9 and STXBP6 leading to higher than expected regional neurodegeneration given the tau level.
F. Nabizadeh, Hanieh Mohamadi· CNS Neuroscience & Therapeut...· 0 citations
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