Publications by authors named "Wilhelmina H J J Krijnen"
Sphingolipid metabolism governs Purkinje cell patterned degeneration in mice.
Proc Natl Acad Sci U S A
September 2021
Article Synopsis
- The study investigates the uneven degeneration of Purkinje cells in the cerebellum, exploring how sphingolipid metabolism might contribute to this issue in various neurological conditions.* -
- Researchers found that different regions of the cerebellum have varying levels of sphingosine kinase 1 and sphingosine-1-phosphate, which play a role in the health of Purkinje cells.* -
- In a mouse model of spinocerebellar ataxia type 1, deleting specific genes linked to sphingolipid metabolism showed a protective effect against Purkinje cell degeneration, indicating a direct connection between these lipids and neurodegeneration.*
Article Synopsis
- Purkinje cells in the cerebellar cortex are diverse and their degeneration patterns differ across subpopulations, with some, such as AldoC-expressing cells, showing relative sparing in certain mouse models for spinocerebellar ataxia type 1 (SCA1).
- A specific mouse model expressing mutant ATXN1 (82Q) revealed that Purkinje cells in the vestibulo-cerebellum are less affected by pathology, both lacking key signs of degeneration and showing no expression of the mutant protein.
- Despite significant pathology in some cerebellar areas, functional tests indicated that certain preserved regions maintain enough functionality, suggesting a robust cerebellar reserve,