A VCP variant was linked to an unusual pattern of tau buildup in the nervous system
Original source
Astrocyte-Predominant Tau Pathology in a Patient With VCP R191Q Variant. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Study type
- Case report
- Studied in
- Human
Related topics
A case report describes a woman with a VCP gene variant who developed progressive muscle weakness, frontotemporal dementia and parkinsonism. After her death, examination found the usual TDP-43 pathology associated with VCP-related disease, along with an unusual form of tau buildup, mainly in astrocytes and extending through the spinal cord. The authors say this expands the known range of brain and spinal cord changes associated with VCP variants.
Why this matters
The findings may help researchers understand how VCP variants can be associated with different patterns of nerve-cell damage, including changes relevant to muscle weakness and motor-neuron disease. This was a single post-mortem case and does not change treatment or establish that VCP variants directly cause this tau pattern.
Limitations and context
This is a single case report based on post-mortem examination. It shows an association, not proof that the VCP variant caused the tau pathology, and the findings need to be confirmed in additional people with VCP variants.