Publications by authors named "Emma Thorn"
Article Synopsis
- The study explores the connection between Parkinson's disease (PD) and multiple sclerosis (MS), examining cases of individuals with the G2019S genetic variant associated with both conditions.
- Out of a research cohort, 1.4% of participants had MS develop before PD, and one case showed significant brain degeneration linked to PD without typical Lewy body formation.
- The findings suggest a complex interplay between immune dysfunction and these neurodegenerative diseases, indicating that MS may occur independently and prior to PD in certain genetic carriers.
Fluid preservation is nearly universally used in brain banking to store fixed tissue specimens for future research applications. However, the effects of long-term immersion on neural circuitry and biomolecules are not well characterized. As a result, there is a need to synthesize studies investigating fluid preservation of brain tissue.
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- Alzheimer's disease and primary age-related tauopathy both show hyperphosphorylated tau neurofibrillary tangles but have different p-tau development patterns in the hippocampus.
- A study using advanced protein analysis found that synaptic health declines as p-tau increases, with notable proteomic differences between Alzheimer's and tauopathy cases.
- Findings suggest that certain hippocampal neurons in possible tauopathy cases may be more similar to Alzheimer's neurons, pointing to amyloid beta's potential role in their disease progression.
Background: Vacuolar protein sorting 13 homolog A (VPS13A) disease, historically known as chorea-acanthocytosis, is a rare neurodegenerative disorder caused by biallelic mutations in VPS13A, usually resulting in reduced or absent levels of its protein product, VPS13A. VPS13A localizes to contact sites between subcellular organelles, consistent with its recently identified role in lipid transfer between membranes. Mutations are associated with neuronal loss in the striatum, most prominently in the caudate nucleus, and associated marked astrogliosis.
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