Astrocyte-Predominant Tau Pathology in a Patient With VCP R191Q Variant.
Daisuke Taniguchi, Ko Tsuyama, Taku Hatano et al.
✦ AI-curated · Sources linked
Case in brief
A Japanese woman with a heterozygous VCP R191Q variant presented with progressive muscle weakness, frontotemporal dementia, and parkinsonism, ultimately passing away at 61. Neuropathological examination revealed FTLD-TDP type D pathology alongside a unique pattern of tau pathology predominantly in astrocytes, with aggregates showing a mix of 3-repeat and 4-repeat tau, differing from typical presentations in other tauopathies.
What made this case unusual
The case highlights a distinct astrocyte-predominant tau pathology in a VCP variant carrier, contrasting with the usual 4-repeat tau predominance seen in other tau-related disorders.
Diagnostic / clinical pearl
Clinicians should consider the potential for atypical tau pathology in patients with VCP variants, as this case illustrates a unique astrocytic involvement that may influence diagnosis and management.
Why it matters
This case broadens the understanding of VCP-related diseases and suggests a possible link between VCP variants and tau aggregation, warranting further investigation into their neuropathological implications.